Association of endometriosis with Sjögren's syndrome: Genetic insights (Review)

Zervou,Maria I.; Tarlatzis,Basil C.; Grimbizis,Grigoris F.; Spandidos,Demetrios A.; Niewold,Timothy B.; Goulielmos,George N.

doi:10.3892/ijmm.2024.5344

Association of endometriosis with Sjögren's syndrome: Genetic insights (Review)

Authors:
- Maria I. Zervou
- Basil C. Tarlatzis
- Grigoris F. Grimbizis
- Demetrios A. Spandidos
- Timothy B. Niewold
- George N. Goulielmos
View Affiliations

Affiliations: Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, 71403 Heraklion, Greece, First Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece, Unit for Human Reproduction, First Department of Obstetrics and Gynecology, ‘Papageorgiou’ General Hospital, Aristotle University Medical School, 56403 Thessaloniki, Greece, Laboratory of Clinical Virology, School of Medicine, University of Crete, 71403 Heraklion, Greece, Barbara Volcker Center for Women and Rheumatic Disease, New York, NY 10021, USA
Published online on: January 3, 2024 https://doi.org/10.3892/ijmm.2024.5344
Article Number: 20
Copyright: © Zervou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

Patients with a history of endometriosis have an increased risk of developing various autoimmune diseases such as rheumatoid arthritis, ankylosing spondylitis, systemic lupus erythematosus, multiple sclerosis and celiac disease. There is a potential association between endometriosis and an increased susceptibility for Sjögren's syndrome (SS). SS is a common chronic, inflammatory, systemic, autoimmune, multifactorial disease of complex pathology, with genetic, epigenetic and environmental factors contributing to the development of this condition. It occurs in 0.5‑1% of the population, is characterized by the presence of ocular dryness, lymphocytic infiltrations and contributes to neurological, gastrointestinal, vascular and dermatological manifestations. Endometriosis is an inflammatory, estrogen‑dependent, multifactorial, heterogeneous gynecological disease, affecting ≤10% of reproductive‑age women. It is characterized by the occurrence of endometrial tissue outside the uterine cavity, mainly in the pelvic cavity, and is associated with pelvic pain, dysmenorrhea, deep dyspareunia and either subfertility or infertility. It is still unclear whether SS appears as a secondary response to endometriosis, or it is developed due to any potential shared mechanisms of these conditions. The aim of the present review was to explore further the biological basis only of the co‑occurrence of these disorders but not their association at clinical basis, focusing on the analysis of the partially shared genetic background between endometriosis and SS, and the clarification of the possible similarities in the underlying pathogenetic mechanisms and the relevant molecular pathways.

View Figures

View References

1	Mariette X and Criswell LA: Primary Sjögren's syndrome. N Engl J Med. 378:931–939. 2018.
2	Baimpa E, Dahabreh IJ, Voulgarelis M and Moutsopoulos HM: Hematologic manifestations and predictors of lymphoma development in primary Sjögren syndrome: Clinical and pathophysiologic aspects. Medicine (Baltimore). 88:284–293. 2009.
3	Voulgarelis M, Dafni UG, Isenberg DA and Moutsopoulos HM: Malignant lymphoma in primary Sjögren's syndrome: A multicenter, retrospective, clinical study by the European concerted action on Sjögren's syndrome. Arthritis Rheum. 42:1765–1772. 1999.
4	Nordmark G, Alm GV and Rönnblom L: Mechanisms of disease: Primary Sjögren's syndrome and the type I interferon system. Nat Clin Pract Rheumatol. 2:262–269. 2006.
5	Llorente L, Richaud-Patin Y, Fior R, Alcocer-Varela J, Wijdenes J, Fourrier BM, Galanaud P and Emilie D: In vivo production of interleukin-10 by non-T cells in rheumatoid arthritis, Sjögren's syndrome, and systemic lupus erythematosus. A potential mechanism of B lymphocyte hyperactivity and autoimmunity. Arthritis Rheum. 37:1647–1655. 1994.
6	Halse A, Tengnér P, Wahren-Herlenius M, Haga H and Jonsson R: Increased frequency of cells secreting interleukin-6 and interleukin-10 in peripheral blood of patients with primary Sjögren's syndrome. Scand J Immunol. 49:533–538. 1999.
7	Fox RI, Pearson G and Vaughan JH: Detection of Epstein-Barr virus-associated antigens and DNA in salivary gland biopsies from patients with Sjogren's syndrome. J Immunol. 137:3162–3168. 1986.
8	Igoe A and Scofield RH: Autoimmunity and infection in Sjögren's syndrome. Curr Opin Rheumatol. 25:480–487. 2013.
9	Sipsas NV, Gamaletsou MN and Moutsopoulos HM: Is Sjögren's syndrome a retroviral disease? Arthritis Res Ther. 13:2122011.
10	Bowman SJ: Primary Sjögren's syndrome. Lupus. 27(Suppl 1): S32–S35. 2018.
11	Bulun SE, Yilmaz BD, Sison C, Miyazaki K, Bernardi L, Liu S, Kohlmeier A, Yin P, Milad M and Wei J: Endometriosis. Endocr Rev. 40:1048–1079. 2019.
12	Simpson JL and Bischoff FZ: Heritability and molecular genetic studies of endometriosis. Ann N Y Acad Sci. 955:239–251. 2002.
13	Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J and Stefansson K: Genetic factors contribute to the risk of developing endometriosis. Hum Reprod. 17:555–559. 2002.
14	Montgomery GW, Nyholt DR, Zhao ZZ, Treloar SA, Painter JN, Missmer SA, Kennedy SH and Zondervan KT: The search for genes contributing to endometriosis risk. Hum Reprod Update. 14:447–457. 2008.
15	Symons LK, Miller JE, Kay VR, Marks RM, Liblik K, Koti M and Tayade C: The immunopathophysiology of endometriosis. Trends Mol Med. 24:748–762. 2018.
16	Berkley KJ, Rapkin AJ and Papka RE: The pains of endometriosis. Science. 308:1587–1589. 2005.
17	Parente Barbosa C, Bentes De Souza AM, Bianco B and Christofolini DM: The effect of hormones on endometriosis development. Minerva Ginecol. 63:375–386. 2011.
18	Simpson JL, Elias S, Malinak LR and Buttram VC Jr: Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol. 137:327–331. 1980.
19	De Ziegler D, Borghese B and Chapron C: Endometriosis and infertility: Pathophysiology and management. Lancet. 376:730–738. 2010.
20	Maddern J, Grundy L, Castro J and Brierley SM: Pain in endometriosis. Front cell neurosci. 14:5908232020.
21	Sampson JA: Peritoneal endometriosis due to menstrual dissemination of endometrial tissue into the peritoneal cavity. Am J Obstet Gynecol. 14:422–469. 1927.
22	Vercellini P, Frontino G, Pietropaolo G, Gattei U, Daguati R and Crosignani PG: Deep endometriosis: Definition, pathogenesis, and clinical management. J Am Assoc Gynecol Laparosc. 11:153–161. 2004.
23	Yovich JL, Rowlands PK, Lingham S, Sillender M and Srinivasan S: Pathogenesis of endometriosis: Look no further than John Sampson. Reprod Biomed Online. 40:7–11. 2020.
24	Parasar P, Ozcan P and Terry KL: Endometriosis: Epidemiology, diagnosis and clinical management. Curr Obstet Gynecol Rep. 6:34–41. 2017.
25	Kvaskoff M, Mu F, Terry KL, Harris HR, Poole EM, Farland L and Missmer SA: Endometriosis: A high-risk population for major chronic diseases? Hum Reprod Update. 21:500–516. 2015.
26	Rafi U, Ahmad S, Bokhari SS, Iqbal MA, Zia A, Khan MA and Roohi N: Association of inflammatory markers/cytokines with cardiovascular risk manifestation in patients with endometriosis. Mediators Inflamm. 2021:34255602021.
27	Vazgiourakis VM, Zervou MI, Papageorgiou L, Chaniotis D, Spandidos DA, Vlachakis D, Eliopoulos E and Goulielmos GN: Association of endometriosis with cardiovascular disease: Genetic aspects (review). Int J Mol Med. 51:292023.
28	Surrey ES, Soliman AM, Johnson SJ, Davis M, Castelli-Haley J and Snabes MC: Risk of developing comorbidities among women with endometriosis: A retrospective matched cohort study. J Womens Health (Larchmt). 27:1114–1123. 2018.
29	Shigesi N, Kvaskoff M, Kirtley S, Feng Q, Fang H, Knight JC, Missmer SA, Rahmioglu N, Zondervan KT and Becker CM: The association between endometriosis and autoimmune diseases: A systematic review and meta-analysis. Hum Reprod Update. 25:486–503. 2019.
30	Zervou MI, Vlachakis D, Papageorgiou L, Eliopoulos E and Goulielmos GN: Increased risk of rheumatoid arthritis in patients with endometriosis: Genetic aspects. Rheumatology (Oxford). 61:4252–4262. 2022.
31	Yin Z, Low HY, Chen BS, Huang KS, Zhang Y, Wang YH, Ye Z and Wei JCC: Risk of ankylosing spondylitis in patients with endometriosis: A population-based retrospective cohort study. Front Immunol. 13:8779422022.
32	Zervou MI, Papageorgiou L, Vlachakis D, Spandidos DA, Eliopoulos E and Goulielmos GN: Genetic factors involved in the co-occurrence of endometriosis with ankylosing spondylitis (review). Mol Med Rep. 27:962023.
33	Zizolfi B, Foreste V, Bonavita S, Rubino V, Ruggiero G, Brescia Morra V, Lanzillo R, Carotenuto A, Boscia F, Taglialatela M and Guida M: Epidemiological and immune profile analysis of Italian subjects with endometriosis and multiple sclerosis. J Clin Med. 12:20432023.
34	Nielsen NM, Jørgensen KT, Pedersen BV, Rostgaard K and Frisch M: The co-occurrence of endometriosis with multiple sclerosis, systemic lupus erythematosus and Sjogren syndrome. Hum Reprod. 26:1555–1559. 2011.
35	Ma L, Li Z, Li W, Ai J and Chen X: MicroRNA-142-3p suppresses endometriosis by regulating KLF9-mediated autophagy in vitro and in vivo. RNA Biol. 16:1733–1748. 2019.
36	Chao YH, Liu CH, Pan YA, Yen FS, Chiou JY and Wei JCC: Association between endometriosis and subsequent risk of Sjögren's syndrome: A nationwide population-based cohort study. Front Immunol. 13:8459442022.
37	Treloar SA, O'Connor DT, O'Connor VM and Martin NG: Genetic influences on endometriosis in an Australian twin sample. simplesueT@qimr.edu.au. Fertil Steril. 71:701–710. 1999.
38	Saha R, Pettersson HJ, Svedberg P, Olovsson M, Bergqvist A, Marions L, Tornvall P and Kuja-Halkola R: Heritability of endometriosis. Fertil Steril. 104:947–952. 2015.
39	Treloar SA, Wicks J, Nyholt DR, Montgomery GW, Bahlo M, Smith V, Dawson G, Mackay IJ, Weeks DE, Bennett ST, et al: Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. Am J Hum Genet. 77:365–376. 2005.
40	Falconer H, D'Hooghe T and Fried G: Endometriosis and genetic polymorphisms. Obstet Gynecol Surv. 62:616–628. 2007.
41	Nyholt DR, Low SK, Anderson CA, Painter JN, Uno S, Morris AP, MacGregor S, Gordon SD, Henders AK, Martin NG, et al: Genome-wide association meta-analysis identifies new endometriosis risk loci. Nat Genet. 44:1355–1359. 2012.
42	Falconer H, Sundqvist J, Xu H, Vodolazkaia A, Fassbender A, Kyama C, Bokor A and D'Hooghe TM: Analysis of common variations in tumor-suppressor genes on chr1p36 among Caucasian women with endometriosis. Gynecol Oncol. 127:398–402. 2012.
43	Kobayashi H, Imanaka S, Nakamura H and Tsuji A: Understanding the role of epigenomic, genomic and genetic alterations in the development of endometriosis (Review). Mol Med Rep. 9:1483–1505. 2014.
44	Rahmioglu N, Nyholt DR, Morris AP, Missmer SA, Montgomery GW and Zondervan KT: Genetic variants underlying risk of endometriosis: Insights from meta-analysis of eight genome-wide association and replication datasets. Hum Reprod Update. 20:702–716. 2014.
45	Sapkota Y, Fassbender A, Bowdler L, Fung JN, Peterse D, O D, Montgomery GW, Nyholt DR and D'Hooghe TM: Independent replication and meta-analysis for endometriosis risk loci. Twin Res Hum Genet. 18:518–525. 2015.
46	Sapkota Y, Steinthorsdottir V, Morris AP, Fassbender A, Rahmioglu N, De Vivo I, Buring JE, Zhang F, Edwards TL, Jones S, et al: Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Nat Commun. 8:155392017.
47	Zondervan KT, Becker CM, Koga K, Missmer SA, Taylor RN and Viganò P: Endometriosis. Nat Rev Dis Primers. 4:92018.
48	Matalliotakis M, Zervou MI, Matalliotaki C, Rahmioglu N, Koumantakis G, Kalogiannidis I, Prapas I, Zondervan K, Spandidos DA, Matalliotakis I and Goulielmos GN: The role of gene polymorphisms in endometriosis. Mol Med Rep. 16:5881–5886. 2017.
49	Matalliotakis M, Zervou MI, Eliopoulos E, Matalliotaki C, Rahmioglu N, Kalogiannidis I, Zondervan K, Spandidos DA, Matalliotakis I and Goulielmos GN: The role of IL-16 gene polymorphisms in endometriosis. Int J Mol Med. 41:1469–1476. 2018.
50	Uimari O, Rahmioglu N, Nyholt DR, Vincent K, Missmer SA, Becker C, Morris AP, Montgomery GW and Zondervan KT: Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. Hum Reprod. 32:780–793. 2017.
51	Albertsen HM, Matalliotaki C, Matalliotakis M, Zervou MI, Matalliotakis I, Spandidos DA, Chettier R, Ward K and Goulielmos GN: Whole exome sequencing identifies hemizygous deletions in the UGT2B28 and USP17L2 genes in a three-generation family with endometriosis. Mol Med Rep. 19:1716–1720. 2019.
52	Vassilopoulou L, Matalliotakis M, Zervou MI, Matalliotaki C, Krithinakis K, Matalliotakis I, Spandidos DA and Goulielmos GN: Defining the genetic profile of endometriosis. Exp Ther Med. 17:3267–3281. 2019.
53	Rahmioglu N, Mortlock S, Ghiasi M, Møller PL, Stefansdottir L, Galarneau G, Turman C, Danning R, Law MH, Sapkota Y, et al: The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nat Genet. 55:423–436. 2023.
54	Goulielmos GN, Matalliotakis M, Matalliotaki C, Eliopoulos E, Matalliotakis I and Zervou MI: Endometriosis research in the-omics era. Gene. 741:1445452020.
55	Zelenko Z, Aghajanova L, Irwin JC and Giudice LC: Nuclear receptor, coregulator signaling, and chromatin remodeling pathways suggest involvement of the epigenome in the steroid hormone response of endometrium and abnormalities in endometriosis. Reprod Sci. 19:152–162. 2012.
56	Tan M, Luo H, Lee S, Jin F, Yang JS, Montellier E, Buchou T, Cheng Z, Rousseaux S, Rajagopal N, et al: Identification of 67 histone marks and histone lysine crotonylation as a new type of histone modification. Cell. 146:1016–1028. 2011.
57	Koukoura O, Sifakis S and Spandidos DA: DNA methylation in endometriosis (Review). Mol Med Rep. 13:939–2948. 2016.
58	Hsiao KY, Wu MH and Tsai SJ: Epigenetic regulation of the pathological process in endometriosis. Reprod Med Biol. 16:314–319. 2017.
59	Kim YJ, Yeon Y, Lee WJ, Shin YU, Cho H, Sung YK, Kim DR, Lim HW and Kang MH: Comparison of MicroRNA expression in tears of normal subjects and Sjögren syndrome patients. Investig Ophthalmol Vis Sci. 60:4889–4895. 2019.
60	Horvath S: DNA methylation age of human tissues and cell types. Genome Biol. 14:R1152013.
61	Teos LY and Alevizos I: Genetics of Sjögren's syndrome. Clin Immunol. 182:41–47. 2017.
62	Moriuchi J, Ichikawa Y, Takaya M, Shimizu H, Uchiyama M, Sato K, Tsuji K and Arimori S: Association between HLA and Sjögren's syndrome in Japanese patients. Arthritis Rheum. 29:1518–1521. 1986.
63	Wang J, Jiang M and Qiu C: Study on the relationship between primary Sjögren syndrome and HLA-DRbeta gene. Zhonghua Nei Ke Za Zhi. 36:398–401. 1997.In Chinese.
64	Hernández-Molina G, Vargas-Alarcón G, Rodríguez-Pérez JM, Martínez-Rodríguez N, Lima G and Sánchez-Guerrero J: High-resolution HLA analysis of primary and secondary Sjögren's syndrome: A common immunogenetic background in Mexican patients. Rheumatol Int. 35:643–649. 2015.
65	Roitberg-Tambur A, Friedmann A, Safirman C, Markitziu A, Ben-Chetrit E, Rubinow A, Moutsopoulos HM, Stavropoulos E, Skopouli FN, Margalit H, et al: Molecular analysis of HLA class II genes in primary Sjögren's syndrome. A study of Israeli Jewish and Greek non-Jewish patients. Hum Immunol. 36:235–242. 1993.
66	Manoussakis MN, Georgopoulou C, Zintzaras E, Spyropoulou M, Stavropoulou A, Skopouli FN and Moutsopoulos HM: Sjögren's syndrome associated with systemic lupus erythematosus: Clinical and laboratory profiles and comparison with primary Sjögren's syndrome. Arthritis Rheum. 50:882–891. 2004.
67	García Portales R, Belmonte Lope MA, Camps García MT, Ocón Sánchez P, Alonso Ortiz A, Guil García M and de Ramón Garrido E: Immunogenetics of the Sjogren's syndrome in southern Spain. An Med Interna. 11:56–61. 1994.In Spanish.
68	Imgenberg-Kreuz J, Sandling JK and Nordmark G: Epigenetic alterations in primary Sjögren's syndrome-an overview. Clin Immunol. 196:12–20. 2018.
69	Lessard CJ, Li H, Adrianto I, Ice JA, Rasmussen A, Grundahl KM, Kelly JA, Dozmorov MG, Miceli-Richard C, Bowman S, et al: Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome. Nat Genet. 45:1284–1292. 2013.
70	Li Y, Zhang K, Chen H, Sun F, Xu J, Wu Z, Li P, Zhang L, Du Y, Luan H, et al: A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. Nat Genet. 45:1361–1365. 2013.
71	Taylor KE, Wong Q, Levine DM, McHugh C, Laurie C, Doheny K, Lam MY, Baer AN, Challacombe S, Lanfranchi H, et al: Genome-wide association analysis reveals genetic heterogeneity of Sjögren's syndrome according to ancestry. Arthritis Rheumatol. 69:1294–1305. 2017.
72	Bolstad AI and Jonsson R: Genetic aspects of Sjögren's syndrome. Arthritis Res. 4:353–359. 2002.
73	Li H, Reksten TR, Ice JA, Kelly JA, Adrianto I, Rasmussen A, Wang S, He B, Grundahl KM, Glenn SB, et al: Identification of a Sjögren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. PLoS Genet. 13:e10068202017.
74	Eisenberg VH, Zolti M and Soriano D: Is there an association between autoimmunity and endometriosis? Autoimmun Rev. 11:806–814. 2012.
75	Khatri B, Tessneer KL, Rasmussen A, Aghakhanian F, Reksten TR, Adler A, Alevizos I, Anaya JM, Aqrawi LA, Baecklund E, et al: Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells. Nat Commun. 13:42872022.
76	Gottenberg JE, Cagnard N, Lucchesi C, Letourneur F, Mistou S, Lazure T, Jacques S, Ba N, Ittah M, Lepajolec C, et al: Activation of IFN pathways and plasmacytoid dendritic cell recruitment in target organs of primary Sjögren's syndrome. Proc Natl Acad Sci USA. 103:2770–2775. 2006.
77	Wildenberg ME, van Helden-Meeuwsen CG, van de Merwe JP, Drexhage HA and Versnel MA: Systemic increase in type I interferon activity in Sjögren's syndrome: A putative role for plasmacytoid dendritic cells. Eur J Immunol. 38:2024–2033. 2008.
78	Matarese G, De Placido G, Nikas Y and Alviggi C: Pathogenesis of endometriosis: Natural immunity dysfunction or autoimmune disease? Trends Mol Med. 9:223–228. 2003.
79	Wilson TJ, Hertzog PJ, Angus D, Munnery L, Wood EC and Kola I: Decreased natural killer cell activity in endometriosis patients: Relationship to disease pathogenesis. Fertil Steril. 62:1086–1088. 1994.
80	Burns KA, Thomas SY, Hamilton KJ, Young SL, Cook DN and Korach KS: Early endometriosis in females is directed by immune-mediated estrogen receptor a and IL-6 cross-talk. Endocrinology. 159:103–118. 2018.
81	Graziottin A, Skaper SD and Fusco M: Mast cells in chronic inflammation, pelvic pain and depression in women. Gynecol Endocrinol. 30:472–477. 2014.
82	Rana N, Braun DP, House R, Gebel H, Rotman C and Dmowski WP: Basal and stimulated secretion of cytokines by peritoneal macrophages in women with endometriosis. Fertil Steril. 65:925–930. 1996.
83	Bedaiwy MA and Falcone T: Peritoneal fluid environment in endometriosis. Clinicopathological implications. Minerva Ginecol. 55:333–345. 2003.
84	Nikolov NP and Illei GG: Pathogenesis of Sjogren's syndrome. Curr Opin Rheumatol. 21:465–470. 2009.
85	Voulgarelis M and Tzioufas AG: Pathogenetic mechanisms in the initiation and perpetuation of Sjögren's syndrome. Nat Rev Rheumatol. 6:529–537. 2010.
86	Manukyan G, Ghazaryan K, Ktsoyan Z, Khachatryan Z, Kelly D, Tatyan M, Agababova M and Aminov R: Comparative analysis of cytokine profiles in autoinflammatory and autoimmune conditions. Cytokine. 50:146–151. 2010.
87	Fox PC and Speight PM: Current concepts of autoimmune exocrinopathy: Immunologic mechanisms in the salivary pathology of Sjögren's syndrome. Crit Rev Oral Biol Med. 7:144–158. 1996.
88	Merrill JE, Kono DH, Clayton J, Ando DG, Hinton DR and Hofman FM: Inflammatory leukocytes and cytokines in the peptide-induced disease of experimental allergic encephalomyelitis in SJL and B10.PL mice. Proc Natl Acad Sci USA. 89:574–578. 1992.
89	Ohyama Y, Nakamura S, Matsuzaki G, Shinohara M, Hiroki A, Fujimura T, Yamada A, Itoh K and Nomoto K: Cytokine messenger RNA expression in the labial salivary glands of patients with Sjögren's syndrome. Arthritis Rheum. 39:1376–1384. 1996.
90	Sjögren E, Leanderson P, Kristenson M and Ernerudh J: Interleukin-6 levels in relation to psychosocial factors: Studies on serum, saliva, and in vitro production by blood mononuclear cells. Brain Behav Immun. 20:270–278. 2006.
91	Sakai A, Sugawara Y, Kuroishi T, Sasano T and Sugawara S: Identification of IL-18 and Th17 cells in salivary glands of patients with Sjögren's syndrome, and amplification of IL-17-mediated secretion of inflammatory cytokines from salivary gland cells by IL-18. J Immunol. 181:2898–2906. 2008.
92	Nguyen CQ, Hu MH, Li Y, Stewart C and Peck AB: Salivary gland tissue expression of interleukin-23 and interleukin-17 in Sjögren's syndrome: Findings in humans and mice. Arthritis Rheum. 58:734–743. 2008.
93	Katsifis GE, Rekka S, Moutsopoulos NM, Pillemer S and Wahl SM: Systemic and local interleukin-17 and linked cytokines associated with Sjögren's syndrome immunopathogenesis. Am J Pathol. 175:1167–1177. 2009.
94	Oxholm P, Daniels TE and Bendtzen K: Cytokine expression in labial salivary glands from patients with primary Sjögren's syndrome. Autoimmunity. 12:185–191. 1992.
95	Koski H, Janin A, Humphreys-Beher MG, Sorsa T, Malmström M and Konttinen YT: Tumor necrosis factor-alpha and receptors for it in labial salivary glands in Sjögren's syndrome. Clin Exp Rheumatol. 19:131–137. 2001.
96	Mackay F and Tangye SG: The role of the BAFF/APRIL system in B cell homeostasis and lymphoid cancers. Curr Opin Pharmacol. 4:347–354. 2004.
97	Carrillo-Ballesteros FJ, Palafox-Sánchez CA, Franco-Topete RA, Muñoz-Valle JF, Orozco-Barocio G, Martínez-Bonilla GE, Gómez-López CE, Marín-Rosales M, López-Villalobos EF, Luquin S, et al: Expression of BAFF and BAFF receptors in primary Sjögren's syndrome patients with ectopic germinal center-like structures. Clin Exp Med. 20:615–626. 2020.
98	Mavragani CP: Mechanisms and new strategies for primary Sjögren's syndrome. Annu Rev Med. 68:331–343. 2017.
99	Hagiwara E, Pando J, Ishigatsubo Y and Klinman DM: Altered frequency of type 1 cytokine secreting cells in the peripheral blood of patients with primary Sjögren's syndrome. J Rheumatol. 25:89–93. 1998.
100	Garcíc-Carrasco M, Font J, Filella X, Cervera R, Ramos-Casals M, Sisó A, Aymamí A, Ballesta AM and Ingelmo M: Circulating levels of Th1/Th2 cytokines in patients with primary Sjögren's syndrome: Correlation with clinical and immunological features. Clin Exp Rheumatol. 19:411–415. 2001.
101	McLaren J: Vascular endothelial growth factor and endometriotic angiogenesis. Hum Reprod Update. 6:45–55. 2000.
102	Malhotra N, Karmakar D, Tripathi V, Luthra K and Kumar S: Correlation of angiogenic cytokines-leptin and IL-8 in stage, type and presentation of endometriosis. Gynecol Endocrinol. 28:224–227. 2012.
103	Maas JW, Le Noble FA, Dunselman GA, De Goeij AF, Struyker Boudier HA and Evers Jl: The chick embryo chorioallantoic membrane as a model to investigate the angiogenic properties of human endometrium. Gynecol Obstet Invest. 48:108–112. 1999.
104	Griffioen AW and Molema G: Angiogenesis: Potentials for pharmacologic intervention in the treatment of cancer, cardiovascular diseases, and chronic inflammation. Pharmacol Rev. 52:237–268. 2000.
105	Barleon B, Reusch P, Totzke F, Herzog C, Keck C, Martiny-Baron G and Marmé D: Soluble VEGFR-1 secreted by endothelial cells and monocytes is present in human serum and plasma from healthy donors. Angiogenesis. 4:143–154. 2001.
106	Carmeliet P, Moons L, Luttun A, Vincenti V, Compernolle V, De Mol M, Wu Y, Bono F, Devy L, Beck H, et al: Synergism between vascular endothelial growth factor and placental growth factor contributes to angiogenesis and plasma extravasation in pathological conditions. Nat Med. 7:575–583. 2001.
107	Donnez J, Smoes P, Gillerot S, Casanas-Roux F and Nisolle M: Vascular endothelial growth factor (VEGF) in endometriosis. Hum Reprod. 13:1686–1690. 1998.
108	Melder RJ, Koenig GC, Witwer BP, Safabakhsh N, Munn LL and Jain R: During angiogenesis, vascular endothelial growth factor and basic fibroblast growth factor regulate natural killer cell adhesion to tumor endothelium. Nat Med. 2:992–997. 1996.
109	Kirchhoff D, Kaulfuss S, Fuhrmann U, Maurer M and Zollner TM: Mast cells in endometriosis: Guilty or innocent bystanders? Expert Opin Ther Targets. 16:237–241. 2012.
110	Sisto M, Ribatti D and Lisi S: Molecular mechanisms linking inflammation to autoimmunity in Sjögren's syndrome: Identification of new targets. Int J Mol Sci. 23:132292022.
111	Ribatti D and Crivellato E: 'Sprouting angiogenesis', a reappraisal. Dev Biol. 372:157–165. 2012.
112	Rundhaug JE: Matrix metalloproteinases and angiogenesis. J Cell Mol Med. 9:267–285. 2005.
113	Swendeman S, Mendelson K, Weskamp G, Horiuchi K, Deutsch U, Scherle P, Hooper A, Rafii S and Blobel CP: VEGF-A stimulates ADAM17-dependent shedding of VEGFR2 and crosstalk between VEGFR2 and ERK signaling. Circ Res. 103:916–918. 2008.
114	Sisto M, Lisi S, Lofrumento DD, D'Amore M, Frassanito MA and Ribatti D: Sjögren's syndrome pathological neovascularization is regulated by VEGF-A-stimulated TACE-dependent crosstalk between VEGFR2 and NF-κB. Genes Immun. 13:411–420. 2012.
115	Gerli R, Vaudo G, Bocci EB, Schillaci G, Alunno A, Luccioli F, Hijazi R, Mannarino E and Shoenfeld Y: Functional impairment of the arterial wall in primary Sjögren's syndrome: Combined action of immunologic and inflammatory factors. Arthritis Care Res (Hoboken). 62:712–718. 2010.
116	Sisto M, Lisi S, Lofrumento DD, D'Amore M and Ribatti D: Neuropilin-1 is upregulated in Sjögren's syndrome and contributes to pathological neovascularization. Histochem Cell Biol. 137:669–677. 2012.
117	Alunno A, Ibba-Manneschi L, Bistoni O, Cipriani S, Topini F, Gerli R and Manetti M: Angiogenic T cells in primary Sjögren's syndrome: A double-edged sword? Clin Exp Rheumatol. 37(Suppl 118): S36–S41. 2019.
118	Bianco B, André GM, Vilarino FL, Peluso C, Mafra FA, Christofolini DM and Barbosa CP: The possible role of genetic variants in autoimmune-related genes in the development of endometriosis. Hum Immunol. 73:306–315. 2012.
119	Nordmark G, Kristjansdottir G, Theander E, Eriksson P, Brun JG, Wang C, Padyukov L, Truedsson L, Alm G, Eloranta ML, et al: Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjögren's syndrome. Genes Immun. 10:68–76. 2009.
120	Bianco B, Fernandes RFM, Trevisan CM, Christofolini DM, Sanz-Lomana CM, de Bernabe JV and Barbosa CP: Influence of STAT4 gene polymorphisms in the pathogenesis of endometriosis. Ann Hum Genet. 83:249–255. 2019.
121	Zamani MR, Salmaninejad A, Akbari Asbagh F, Masoud A and Rezaei N: STAT4 single nucleotide gene polymorphisms and susceptibility to endometriosis-related infertility. Eur J Obstet Gynecol Reprod Biol. 203:20–24. 2016.
122	Gestermann N, Mekinian A, Comets E, Loiseau P, Puechal X, Hachulla E, Gottenberg JE, Mariette X and Miceli-Richard C: STAT4 is a confirmed genetic risk factor for Sjögren's syndrome and could be involved in type 1 interferon pathway signaling. Genes Immun. 11:432–438. 2010.
123	Gomes FMCS, Bianco B, Teles JS, Christofolini DM, de Souza AMB, Guedes AD and Barbosa CP: PTPN22 C1858T polymorphism in women with endometriosis. Am J Reprod Immunol. 63:227–232. 2010.
124	Veena KV, Manolla ML, Deenadayal M, Shivaji S and Bhanoori M: The rs2304256, a non-synonymous polymorphism in tyrosine kinase 2 gene is associated with the risk of endometriosis. Austin J Obstet Gynecol. 10:12162023.
125	Mier-Cabrera J, Cruz-Orozco O, de la Jara-Díaz J, Galicia-Castillo O, Buenrostro-Jáuregui M, Parra-Carriedo A and Hernández-Guerrero C: Polymorphisms of TNF-alpha (-308), IL-1beta (+3954) and IL1-Ra (VNTR) are associated to severe stage of endometriosis in Mexican women: A case control study. BMC Womens Health. 22:3562022.
126	Qin B, Wang J, Liang Y, Yang Z and Zhong R: The association between TNF-α, IL-10 gene polymorphisms and primary Sjögren's syndrome: A meta-analysis and systemic review. PLoS One. 8:e634012013.
127	Vodolazkaia A, Yesilyurt BT, Kyama CM, Bokor A, Schols D, Huskens D, Meuleman C, Peeraer K, Tomassetti C, Bossuyt X, et al: Vascular endothelial growth factor pathway in endometriosis: Genetic variants and plasma biomarkers. Fertil Steril. 105:988–996. 2016.
128	Adewuyi EO, Mehta D; International Endogene Consortium (IEC); 23andMe Research Team; Nyholt DR: Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways. Hum Reprod. 37:366–383. 2022.
129	Ishii K, Takakuwa K, Kashima K, Tamura M and Tanaka K: Associations between patients with endometriosis and HLA class II; the analysis of HLA-DQB1 and HLA-DPB1 genotypes. Hum Reprod. 18:985–989. 2003.
130	Cruz-Tapias P, Rojas-Villarraga A, Maier-Moore S and Anaya JM: HLA and Sjögren's syndrome susceptibility. A meta-analysis of worldwide studies. Autoimmun Rev. 11:281–287. 2012.
131	Kitawaki J, Obayashi H, Kado N, Ishihara H, Koshiba H, Maruya E, Saji H, Ohta M, Hasegawa G, Nakamura N, et al: Association of HLA class I and class II alleles with susceptibility to endometriosis. Hum Immunol. 63:1033–1038. 2002.
132	Frucht DM, Aringer M, Galon J, Danning C, Brown M, Fan S, Centola M, Wu CY, Yamada N, El Gabalawy H and O'Shea JJ: Stat4 is expressed in activated peripheral blood monocytes, dendritic cells, and macrophages at sites of Th1-mediated inflammation. J Immunol. 164:4659–4664. 2000.
133	Korman BD, Kastner DL, Gregersen PK and Remmers EF: STAT4: Genetics, mechanisms, and implications for autoimmunity. Curr Allergy Asthma Rep. 8:398–403. 2008.
134	Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, de Bakker PI, Le JM, Lee HS, Batliwalla F, et al: STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med. 357:977–986. 2007.
135	Kariuki SN, Kirou KA, MacDermott EJ, Barillas-Arias L, Crow MK and Niewold TB: Cutting edge: Autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo. J Immunol. 182:34–38. 2009.
136	Kofteridis D, Krasoudaki E, Kavousanaki M, Zervou MI, Panierakis C, Boumpas DT and Goulielmos GN: STAT4 is not associated with type 2 diabetes in the genetically homogeneous population of Crete. Genet Test Mol Biomarkers. 13:281–284. 2009.
137	Podgaec S, Dias Junior JA, Chapron C, Oliveira RM, Baracat EC and Abrão MS: Th1 and Th2 ummune responses related to pelvic endometriosis. Rev Assoc Med Bras (1992). 56:92–98. 2010.
138	Ryzhakov G, Eames HL and Udalova IA: Activation and function of interferon regulatory factor 5. J Interferon Cytokine Res. 35:71–78. 2015.
139	Taniguchi T, Ogasawara K, Takaoka A and Tanaka N: IRF family of transcription factors as regulators of host defense. Annu Rev Immunol. 19:623–655. 2001.
140	Chang Foreman HC, Van Scoy S, Cheng TF and Reich NC: Activation of interferon regulatory factor 5 by site specific phosphorylation. PLoS One. 7:e330982012.
141	Krausgruber T, Blazek K, Smallie T, Alzabin S, Lockstone H, Sahgal N, Hussell T, Feldmann M and Udalova IA: IRF5 promotes inflammatory macrophage polarization and TH1-TH17 responses. Nat Immunol. 12:231–238. 2011.
142	Bianco B, De Camargo CR, Christofolini DM and Barbosa CP: Involvement of interferon regulatory factor 5 (IRF5) gene polymorphisms and haplotype in endometriosis-related infertility. J Endometr Pelvic Pain Disord. 9:188–192. 2017.
143	Miceli-Richard C, Comets E, Loiseau P, Puechal X, Hachulla E and Mariette X: Association of an IRF5 gene functional polymorphism with Sjögren's syndrome. Arthritis Rheum. 56:3989–3994. 2007.
144	Niewold TB, Kelly JA, Kariuki SN, Franek BS, Kumar AA, Kaufman KM, Thomas K, Walker D, Kamp S, Frost JM, et al: IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus. Ann Rheum Dis. 71:463–468. 2012.
145	Wang K, Li M and Hakonarson H: Analysing biological pathways in genome-wide association studies. Nat Rev Genet. 11:843–854. 2010.
146	Burbelo PD, Ambatipudi K and Alevizos I: Genome-wide association studies in Sjögren's syndrome: What do the genes tell us about disease pathogenesis? Autoimmun Rev. 13:756–761. 2014.
147	Zervou MI, Dorschner JM, Ghodke-Puranik Y, Boumpas DT, Niewold TB and Goulielmos GN: Association of IRF5 polymorphisms with increased risk for systemic lupus erythematosus in population of Crete, a southern-eastern European Greek island. Gene. 610:9–14. 2017.
148	Sankararaman S, Mallick S, Dannemann M, Prüfer K, Kelso J, Pääbo S, Patterson N and Reich D: The genomic landscape of Neanderthal ancestry in present-day humans. Nature. 507:354–357. 2014.
149	Wu J, Katrekar A, Honigberg LA, Smith AM, Conn MT, Tang J, Jeffery D, Mortara K, Sampang J, Williams SR, et al: Identification of substrates of human protein-tyrosine phosphatase PTPN22. J Biol Chem. 281:11002–11010. 2006.
150	Cohen S, Dadi H, Shaoul E, Sharfe N and Roifman CM: Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. Blood. 93:2013–2024. 1999.
151	Gomez LM, Anaya JM, Gonzalez CI, Pineda-Tamayo R, Otero W, Arango A and Martín J: PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. Genes Immun. 6:628–631. 2005.
152	Cloutier JF and Veillette A: Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med. 189:111–121. 1999.
153	Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK and Harley JB: The PTPN22 C1858T functional polymorphism and autoimmune diseases-a meta-analysis. Rheumatology (Oxford). 46:49–56. 2007.
154	Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, et al: A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet. 36:337–338. 2004.
155	Dmowski WP, Gebel HM and Braun DP: The role of cell-mediated immunity in pathogenesis of endometriosis. Acta Obstet Gynecol Scand Suppl. 159:7–14. 1994.
156	Eyre S, Bowes J, Diogo D, Lee A, Barton A, Martin P, Zhernakova A, Stahl E, Viatte S, McAllister K, et al: High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet. 44:1336–1340. 2012.
157	Diogo D, Bastarache L, Liao KP, Graham RR, Fulton RS, Greenberg JD, Eyre S, Bowes J, Cui J, Lee A, et al: TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits. PLoS One. 10:e01222712015.
158	Kyogoku C, Morinobu A, Nishimura K, Sugiyama D, Hashimoto H, Tokano Y, Mimori T, Terao C, Matsuda F, Kuno T and Kumagai S: Lack of association between tyrosine kinase 2 (TYK2) gene polymorphisms and susceptibility to SLE in a Japanese population. Mod Rheumatol. 19:401–406. 2009.
159	Tokumasa N, Suto A, Kagami S, Furuta S, Hirose K, Watanabe N, Saito Y, Shimoda K, Iwamoto I and Nakajima H: Expression of Tyk2 in dendritic cells is required for IL-12, IL-23, and IFN-gamma production and the induction of Th1 cell differentiation. Blood. 110:553–560. 2007.
160	Li Z, Rotival M, Patin E, Michel F and Pellegrini S: Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage. PLoS One. 15:e02252892020.
161	Chegini N, Roberts M and Ripps B: Differential expression of interleukins (IL)-13 and IL-15 in ectopic and eutopic endometrium of women with endometriosis and normal fertile women. Am J Reprod Immunol. 49:75–83. 2003.
162	Wang F, Wang H, Jin D and Zhang Y: Serum miR-17, IL-4, and IL-6 levels for diagnosis of endometriosis. Medicine (Baltimore). 97:e108532018.
163	Kelly-Welch AE, Hanson EM, Boothby MR and Keegan AD: Interleukin-4 and interleukin-13 signaling connections maps. Science. 300:1527–1528. 2003.
164	Roberts M, Luo X and Chegini N: Differential regulation of interleukins IL-13 and IL-15 by ovarian steroids, TNF-alpha and TGF-beta in human endometrial epithelial and stromal cells. Mol Hum Reprod. 11:751–760. 2005.
165	Karjalainen A, Shoebridge S, Krunic M, Simonović N, Tebb G, Macho-Maschler S, Strobl B and Müller M: TYK2 in tumor immunosurveillance. Cancers (Basel). 12:1502020.
166	Goronzy JJ, Zettl A and Weyand CM: T cell receptor repertoire in rheumatoid arthritis. Int Rev Immunol. 17:339–363. 1998.
167	Morling N, Andersen V, Fugger L, Georgsen J, Halberg P, Oxholm P, Odum N and Svejgaard A: Immunogenetics of rheumatoid arthritis and primary Sjögren's syndrome: DNA polymorphism of HLA class II genes. Dis Markers. 9:289–296. 1991.
168	Marsh SG and Bodmer JG: HLA class II nucleotide sequences, 1991. Hum Immunol. 31:207–227. 1991.
169	Cowan EP, Pierce ML, McFarland HF and McFarlin DE: HLA-DR and -DQ allelic sequences in multiple sclerosis patients are identical to those found in the general population. Hum Immunol. 32:203–210. 1991.
170	Reveille JD, Fischbach M, Mcnearney T, Friedman AW, Aguilar MB, Lisse J, Fritzler MJ, Ahn C and Arnett FC; GENISOS Study Group: Systemic sclerosis in 3 US ethnic groups: A comparison of clinical, sociodemographic, serologic, and immunogenetic determinants. Semin Arthritis Rheum. 30:332–346. 2001.
171	Hodak E, Lapidoth M, Kohn K, David D, Brautbar B, Kfir K, Narinski N, Safirman S, Maron M and Klein K: Mycosis fungoides: HLA class II associations among Ashkenazi and non-Ashkenazi Jewish patients. Br J Dermatol. 145:974–980. 2001.
172	Semino C, Semino A, Pietra G, Mingari MC, Barocci S, Venturini PL, Ragni N and Melioli G: Role of major histocompatibility complex class I expression and natural killer-like T cells in the genetic control of endometriosis. Fertil Steril. 64:909–916. 1995.
173	Fox RI, Kang HI, Ando D, Abrams J and Pisa E: Cytokine mRNA expression in salivary gland biopsies of Sjögren's syndrome. J Immunol. 152:5532–5539. 1994.
174	Abutorabi R, Baradaran A, Sadat Mostafavi F, Zarrin Y and Mardanian F: Evaluation of tumor necrosis factor alpha polymorphism frequencies in endometriosis. Int J Fertil Steril. 9:329–337. 2015.
175	Harada T, Iwabe T and Terakawa N: Role of cytokines in endometriosis. Fertil Steril. 76:1–10. 2001.
176	Brennan FM and Feldmann M: Cytokines in autoimmunity. Curr Opin Immunol. 8:872–877. 1996.
177	Gupta V, Gupta A, Jafar T, Gupta V, Agrawal S, Srivastava N, Kumar S, Singh AK, Natu SM, Agarwal CG and Agarwal GG: Association of TNF-α promoter gene G-308A polymorphism with metabolic syndrome, insulin resistance, serum TNF-α and leptin levels in Indian adult women. Cytokine. 57:32–36. 2012.
178	Bischoff F and Simpson JL: Genetic basis of endometriosis. Ann N Y Acad Sci. 1034:284–299. 2004.
179	Cramer DW and Missmer SA: The epidemiology of endometriosis. Ann NY Acad Sci. 955:11–22. 34–36. 396–406. 2002.
180	Kyama CM, Overbergh L, Debrock S, Valckx D, Vander Perre S, Meuleman C, Mihalyi A, Mwenda JM, Mathieu C and D'Hooghe TM: Increased peritoneal and endometrial gene expression of biologically relevant cytokines and growth factors during the menstrual phase in women with endometriosis. Fertil Steril. 85:1667–1675. 2006.
181	Bertorello R, Cordone MP, Contini P, Rossi P, Indiveri F, Puppo F and Cordon G: Increased levels of interleukin-10 in saliva of Sjögren's syndrome patients. Correlation with disease activity. Clin Exp Med. 4:148–151. 2004.
182	Jaakkola P, Mole DR, Tian YM, Wilson MI, Gielbert J, Gaskell SJ, von Kriegsheim A, Hebestreit HF, Mukherji M, Schofield CJ, et al: Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation. Science. 292:468–472. 2001.
183	Palazon A, Goldrath AW, Nizet V and Ohnson RS: HIF transcription factors, inflammation, and immunity. Immunity. 41:518–528. 2014.
184	Shan B, Gerez J, Haedo M, Fuertes M, Theodoropoulou M, Buchfelder M, Losa M, Stalla GK, Arzt E and Renner U: RSUME is implicated in HIF-1-induced VEGF-A production in pituitary tumour cells. Endocr Relat Cancer. 19:13–27. 2012.
185	Hua S and Dias TH: Hypoxia-inducible factor (HIF) as a target for novel therapies in rheumatoid arthritis. Front Pharmacol. 7:1842016.
186	Yang ZC and Liu Y: Hypoxia-inducible factor-1α and autoimmune lupus, arthritis. Inflammation. 39:1268–1273. 2016.
187	Clifford SC, Astuti D, Hooper L, Maxwell PH, Ratcliffe PJ and Maher ER: The pVHL-associated SCF ubiquitin ligase complex: Molecular genetic analysis of elongin B and C, Rbx1 and HIF-1alpha in renal cell carcinoma. Oncogene. 20:5067–5074. 2001.
188	Dang EV, Barbi J, Yang HY, Jinasena D, Yu H, Zheng Y, Bordman Z, Fu J, Kim Y, Yen HR, et al: Control of T(H)17/T(reg) balance by hypoxia-inducible factor 1. Cell. 146:772–784. 2011.
189	Hu F, Liu H, Xu L, Li Y, Liu X, Shi L, Su Y, Qiu X, Zhang X, Yang Y, et al: Hypoxia-inducible factor-1α perpetuates synovial fibroblast interactions with T cells and B cells in rheumatoid arthritis. Eur J Immunol. 46:742–751. 2016.
190	Nezos A, Gravani F, Tassidou A, Kapsogeorgou EK, Voulgarelis M, Koutsilieris M, Crow MK and Mavragani C: Type I and II interferon signatures in Sjogren's syndrome pathogenesis: Contributions in distinct clinical phenotypes and Sjogren's related lymphomagenesis. J Autoimmun. 63:47–58. 2015.
191	Tanimoto K, Yoshiga K, Eguchi H, Kaneyasu M, Ukon K, Kumazaki T, Oue N, Yasui W, Imai K, Nakachi K, et al: Hypoxia-inducible factor-1alpha polymorphisms associated with enhanced transactivation capacity, implying clinical significance. Carcinogenesis. 24:1779–1783. 2003.
192	Collec E, Colin Y, Carbonnet F, Hattab C, Bertrand O, Cartron JP and Kim CL: Structure and expression of the mouse homologue of the XK gene. Immunogenetics. 50:16–21. 1999.
193	Joo YB, Lim J, Tsao BP, Nath SK, Kim K and Bae SC: Genetic variants in systemic lupus erythematosus susceptibility loci, XKR6 and GLT1D1 are associated with childhood-onset SLE in a Korean cohort. Sci Rep. 8:99622018.
194	Cordero RY, Cordero JB, Stiemke AB, Datta LW, Buyske S, Kugathasan S, McGovern DPB, Brant SR and Simpson CL: Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort. Hum Mol Genet. 32:873–882. 2023.
195	Kottyan LC, Davis BP, Sherrill JD, Liu K, Rochman M, Kaufman K, Weirauch MT, Vaughn S, Lazaro S, Rupert AM, et al: Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. Nat Genet. 46:895–900. 2014.
196	Saj A and Lai EC: Control of microRNA biogenesis and transcription by cell signaling pathways. Curr Opin Genet Dev. 21:504–510. 2011.
197	Marí-Alexandre J, Sánchez-Izquierdo D, Gilabert-Estellés J, Barceló-Molina M, Braza-Boïls A and Sandoval J: miRNAs regulation and its role as biomarkers in endometriosis. Int J Mol Sci. 17:932016.
198	Dai R and Ahmed SA: MicroRNA, a new paradigm for understanding immunoregulation, inflammation, and autoimmune diseases. Transl Res. 157:163–179. 2011.
199	Garo LP and Murugaiyan G: Contribution of microRNAs to autoimmune diseases. Cell Mol Life Sci. 73:2041–2051. 2016.
200	Qu Z, Li W and Fu B: MicroRNAs in autoimmune diseases. Biomed Res Int. 2014:5278952014.
201	Yang Y, Peng L, Ma W, Yi F, Zhang Z, Chen H, Guo Y, Wang L, Zhao LD, Zheng W, et al: Autoantigen-targeting microRNAs in Sjögren's syndrome. Clin Rheumatol. 35:911–917. 2016.
202	Monnaka VU, Hernandes C, Heller D and Podgaec S: Overview of miRNAs for the non-invasive diagnosis of endometriosis: Evidence, challenges and strategies. A systematic review. Einstein (Sao Paulo). 19:eRW57042021.In English, Portuguese.
203	De Benedittis G, Ciccacci C, Latini A, Novelli L, Novelli G and Borgiani P: Emerging role of microRNAs and long non-coding RNAs in Sjögren's syndrome. Genes (Basel). 12:9032021.
204	Ghafouri-Fard S, Shoorei H and Taheri M: Role of non-coding RNAs in the pathogenesis of endometriosis. Front Oncol. 10:13702020.
205	Reale M, D'Angelo C, Costantini E, Laus M, Moretti A and Croce A: MicroRNA in Sjögren's syndrome: Their potential roles in pathogenesis and diagnosis. J Immunol Res. 2018:75101742018.
206	Suryawanshi S, Vlad AM, Lin HM, Mantia-Smaldone G, Laskey R, Lee M, Lin Y, Donnellan N, Klein-Patel M, Lee T, et al: Plasma microRNAs as novel biomarkers for endometriosis and endometriosis-associated ovarian cancer. Clin Cancer Res. 19:1213–1224. 2013.
207	Cha S, Mona M, Lee KE, Kim DH and Han K: MicroRNAs in autoimmune Sjögren's syndrome. Genomics Inform. 16:e192018.
208	Abdel-Rasheed M, Nour Eldeen G, Mahmoud M, ElHefnawi M, Abu-Shahba N, Reda M, Elsetohy K, Nabil M, Elnoury A, Taha T and Azmy O: MicroRNA expression analysis in endometriotic serum treated mesenchymal stem cells. EXCLI J. 16:852–867. 2017.
209	Wang Y, Zhang G, Zhang L, Zhao M and Huang H: Decreased microRNA-181a and -16 expression levels in the labial salivary glands of Sjögren syndrome patients. Exp Ther Med. 15:426–432. 2018.
210	Alevizos I and Illei GG: MicroRNAs in Sjögren's syndrome as a prototypic autoimmune disease. Autoimmun Rev. 9:618–621. 2010.
211	Cosar E, Mamillapalli R, Ersoy GS, Cho S, Seifer B and Taylor HS: Serum microRNAs as diagnostic markers of endometriosis: A comprehensive array-based analysis. Fertil Steril. 106:402–409. 2016.
212	Yan T, Shen J, Chen J, Zhao M, Guo H and Wang Y: Differential expression of miR-17-92 cluster among varying histological stages of minor salivary gland in patients with primary Sjögren's syndrome. Clin Exp Rheumatol. 37(Suppl 118): S49–S54. 2019.
213	Wang-Renault SF, Boudaoud S, Nocturne G, Roche E, Sigrist N, Daviaud C, Bugge Tinggaard A, Renault V, Deleuze JF, Mariette X and Tost J: Deregulation of microRNA expression in purified T and B lymphocytes from patients with primary Sjögren's syndrome. Ann Rheum Dis. 77:133–140. 2018.
214	Qi H, Liang G, Yu J, Wang X, Liang Y, He X, Feng T and Zhang J: Genome-wide profiling of miRNA expression patterns in tubal endometriosis. Reproduction. 157:525–534. 2019.
215	Chen X, Jiang Y and Pan D: miR-30c may serve a role in endometriosis by targeting plasminogen activator inhibitor-1. Exp Ther Med. 14:4846–4852. 2017.
216	Maged AM, Deeb WS, El Amir A, Zaki SS, El Sawah H, Al Mohamady M, Metwally AA and Katta MA: Diagnostic accuracy of serum miR-122 and miR-199a in women with endometriosis. Int J Gynecol Obstetr. 141:14–19. 2018.
217	Yang P, Wu Z, Ma C, Pan N, Wang Y and Yan L: Endometrial miR-543 is downregulated during the implantation window in women with endometriosis-related infertility. Reprod Sci. 26:900–908. 2019.
218	Cortes-Troncoso J, Jang SI, Perez P, Hidalgo J, Ikeuchi T, Greenwell-Wild T, Warner BM, Moutsopoulos NM and Alevizos I: T cell exosome-derived miR-142-3p impairs glandular cell function in Sjögren's syndrome. JCI Insight. 5:e1334972020.
219	Shi H, Zheng LY, Zhang P and Yu CQ: miR-146a and miR-155 expression in PBMCs from patients with Sjögren's syndrome. J Oral Pathol Med. 43:792–797. 2014.
220	Ibáñez-Cabellos JS, Pallardó FV, García-Giménez JL and Seco-Cervera M: Oxidative stress and epigenetics: miRNA involvement in rare autoimmune diseases. Antioxidants (Basel). 12:8002023.
221	Nisenblat V, Sharkey DJ, Wang Z, Evans SF, Healey M, Ohlsson Teague EMC, Print CG, Robertson SA and Hull ML: Plasma miRNAs display limited potential as diagnostic tools for endometriosis. J Clin Endocrinol Metab. 104:1999–2022. 2019.
222	Azmy OM and Elgarf WT: MiRNA-130a, a potential endometriosis inducing factor. Med Res J. 11:40–47. 2012.
223	Williams AEG, Choi K, Chan AL, Lee YJ, Reeves WH, Bubb MR, Stewart CM and Cha S: Sjögren's syndrome-associated microRNAs in CD14(+) monocytes unveils targeted TGFβ signaling. Arthritis Res Ther. 18:952016.
224	Le Dantec C, Varin MM, Brooks WH, Pers JO, Youinou P and Renaudineau Y: Epigenetics and Sjögren's syndrome. Curr Pharm Biotechnol. 13:2046–2053. 2012.
225	Peng L, Ma W, Yi F, Yang YJ, Lin W, Chen H, Zhang X, Zhang LH, Zhang F and Du Q: MicroRNA profiling in Chinese patients with primary Sjögren syndrome reveals elevated miRNA-181a in peripheral blood mononuclear cells. J Rheumatol. 41:2208–2213. 2014.
226	Saare M, Rekker K, Laisk-Podar T, Sõritsa D, Roost AM, Simm J, Velthut-Meikas A, Samuel K, Metsalu T, Karro H, et al: High-throughput sequencing approach uncovers the miRNome of peritoneal endometriotic lesions and adjacent healthy tissues. PLoS One. 9:e1126302014.
227	Pateisky P, Pils D, Szabo L, Kuessel L, Husslein H, Schmitz A, Wenzl R and Yotova I: hsa-miRNA-154-5p expression in plasma of endometriosis patients is a potential diagnostic marker for the disease. Reprod Biomed Online. 37:449–466. 2018.
228	Yang RQ, Teng H, Xu XH, Liu SY, Wang YH, Guo FJ and Liu XJ: Microarray analysis of microRNA deregulation and angiogenesis-related proteins in endometriosis. Genet Mol Res. 15:150278262016.
229	Jia SZ, Yang Y, Lang J, Sun P and Leng J: Plasma miR-17-5p, miR-20a and miR-22 are down-regulated in women with endometriosis. Hum Reprod. 28:322–330. 2013.
230	Taguchi A, Yanagisawa K, Tanaka M, Cao K, Matsuyama Y, Goto H and Takahashi T: Identification of hypoxia-inducible factor-1 alpha as a novel target for miR-17-92 microRNA cluster. Cancer Res. 68:5540–5545. 2008.
231	Lei Z, Li B, Yang Z, Fang H, Zhang GM, Feng ZH and Huang B: Regulation of HIF-1alpha and VEGF by miR-20b tunes tumor cells to adapt to the alteration of oxygen concentration. PLoS One. 4:e76292009.
232	Gutierrez LS and Gutierrez J: Thrombospondin 1 in metabolic diseases. Front Endocrinol (Lausanne). 12:6385362021.
233	Mogilyansky E and Rigoutsos I: The miR-17/92 cluster: A comprehensive update on its genomics, genetics, functions and increasingly important and numerous roles in health and disease. Cell Death Differ. 20:1603–1614. 2013.
234	Baulina NM, Kulakova OG and Favorova OO: MicroRNAs: The role in autoimmune inflammation. Acta Naturae. 8:21–33. 2016.
235	Xu X, Li Z, Liu J, Yu S and Wei Z: MicroRNA expression profiling in endometriosis-associated infertility and its relationship with endometrial receptivity evaluated by ultrasound. J Xray Sci Technol. 25:523–532. 2017.
236	Infante-Menéndez J, López-Pastor AR, González-López P, Gómez-Hernández A and Escribano O: The Interplay between oxidative stress and miRNAs in obesity-associated hepatic and vascular complications. Antioxidants (Basel). 9:6072020.
237	Qi H, Zhang J, Shang Y, Yuan S and Meng C: Argon inhibits reactive oxygen species oxidative stress via the miR-21-mediated PDCD4/PTEN pathway to prevent myocardial ischemia/reperfusion injury. Bioengineered. 12:5529–5539. 2021.
238	Zhang B, Xu ZW, Wang KH, Lu TC and Du Y: Complex regulatory network of microRNAs, transcription factors, gene alterations in adrenocortical cancer. Asian Pacific J Cancer Prev. 14:2265–2268. 2013.
239	Alsaleh G, François A, Philippe L, Gong YZ, Bahram S, Cetin S, Pfeffer S, Gottenberg JE, Wachsmann D, Georgei P and Sibilia J: MiR-30a-3p negatively regulates BAFF synthesis in systemic sclerosis and rheumatoid arthritis fibroblasts. PLoS One. 9:e1112662014.
240	Wang WT, Zhao YN, Han BW, Hong SJ and Chen YQ: Circulating microRNAs identified in a genome-wide serum microRNA expression analysis as noninvasive biomarkers for endometriosis. J Clin Endocrinol Metab. 98:281–289. 2013.
241	Nahid MA, Pauley KM, Satoh M and Chan EK: miR-146a is critical for endotox-ininduced tolerance: Implication in innate immunity. J Biol Chem. 284:34590–34599. 2009.
242	Nahid MA, Satoh M and Chan EK: Mechanistic role of microRNA-146a in endotoxin-induced differential cross-regulation of TLR signaling. J Immunol. 186:1723–1734. 2010.
243	Lu LF, Boldin MP, Chaudhry A, Lin LL, Taganov KD, Hanada T, Yoshimura A, Baltimore D and Rudensky AY: Function of miR-146a in controlling Treg cell-mediated regulation of Th1 responses. Cell. 142:914–929. 2010.
244	Curtale G, Citarella F, Carissimi C, Goldoni M, Carucci N, Fulci V, Franceschini D, Meloni F, Barnaba V and Macino G: An emerging player in the adaptive immune response: microRNA-146a is a modulator of IL-2 expression and activation-induced cell death in T lymphocytes. Blood. 115:265–273. 2010.
245	Tsitsiou E and Lindsay MA: microRNAs and the immune response. Curr Opin Pharmacol. 9:514–520. 2009.
246	Zilahi E, Tarr T, Papp G, Griger Z, Sipka S and Zeher M: Increased microRNA-146a/b, TRAF6 gene and decreased IRAK1 gene expressions in the peripheral mononuclear cells of patients with Sjögren's syndrome. Immunol Lett. 141:165–168. 2012.
247	Wang X, Xin S, Wang Y, Ju D, Wu Q, Qiu Y, Niu X, Liu W, Li J and Ji P: MicroRNA-146a-5p enhances T helper 17 cell differentiation via decreasing a disintegrin and metalloprotease 17 level in primary sjögren's syndrome. Bioengineered. 2:310–324. 2021.
248	Gottfried E, Kreutz M and Mackensen A: Tumor metabolism as modulator of immune response and tumor progression. Semin Cancer Biol. 22:335–341. 2012.
249	Appel S, Le Hellard S, Bruland O, Brun JG, Omdal R, Kristjansdottir G, Theander E, Nordmark G, Kvarnström M, Eriksson P, et al: Potential association of muscarinic receptor 3 gene variants with primary Sjogren's syndrome. Ann Rheum Dis. 70:1327–1329. 2011.
250	Whisnant AW, Bogerd HP, Flores O, Ho P, Powers JG, Sharova N, Stevenson M, Chen CH and Cullen BR: In-depth analysis of the interaction of HIV-1 with cellular microRNA biogenesis and effector mechanisms. mBio. 4:e0001932013.
251	Eggers JC, Martino V, Reinbold R, Schäfer SD, Kiesel L, Starzinski-Powitz A, Schüring AN, Kemper B, Greve B and Götte M: microRNA miR-200b affects proliferation, invasiveness and stemness of endometriotic cells by targeting ZEB1, ZEB2 and KLF4. Reprod Biomed Online. 32:434–445. 2016.
252	Matsuzaki S and Darcha C: Epithelial to mesenchymal transition-like and mesenchymal to epithelial transition-like processes might be involved in the pathogenesis of pelvic endometriosis. Hum Reprod. 27:712–721. 2012.
253	Proestling K, Birner P, Gamperl S, Nirtl N, Marton E, Yerlikaya G, Wenzl R, Streubel B and Husslein H: Enhanced epithelial to mesenchymal transition (EMT) and upregulated MYC in ectopic lesions contribute independently to endometriosis. Reprod Biol Endocrinol. 13:752015.
254	Kapsogeorgou EK, Gourzi VC, Manoussakis MN, Moutsopoulos HM and Tzioufas AG: Cellular microRNAs (miRNAs) and Sjögren's syndrome: Candidate regulators of autoimmune response and autoantigen expression. J Autoimmun. 37:129–135. 2011.
255	Jones Buie JN, Goodwin AJ, Cook JA, Halushka PV and Fan H: The role of miRNAs in cardiovascular disease risk factors. Atherosclerosis. 254:271–281. 2016.
256	Zeng Y, Zhang X, Kang K, Chen J, Wu Z, Huang J, Lu W, Chen Y, Zhang J, Wang Z, et al: MicroRNA-223 attenuates hypoxia-induced vascular remodeling by targeting RhoB/MLC2 in pulmonary arterial smooth muscle cells. Sci Rep. 6:249002016.
257	Fulci V, Scappucci G, Sebastiani GD, Giannitti C, Franceschini D, Meloni F, Colombo T, Citarella F, Barnaba V, Minisola G, et al: miR-223 is overexpressed in T-lymphocytes of patients affected by rheumatoid arthritis. Hum Immunol. 71:206–211. 2010.
258	Pan Q, Ma J and Guo K: miR-223 enhances the neuroprotection of estradiol against oxidative stress injury by inhibiting the FOXO3/TXNIP axis. Neurochem Res. 47:1865–1877. 2022.
259	Seli E and Arici A: Endometriosis: Interaction of immune and endocrine systems. Semin Reprod Med. 21:135–144. 2003.
260	Badawy SZ, Cuenca V, Stitzel A and Tice D: Immune rosettes of T and B lymphocytes in infertile women with endometriosis. J Reprod Med. 32:194–197. 1987.
261	Nothnick WB: Treating endometriosis as an autoimmune disease. Fertil Steril. 76:223–231. 2001.
262	Ma K: Endometriosis increases the risk for Sjögren syndrome: A nationwide prospective cohort study. Oral Surg Oral Med Oral Pathol Oral Radiol. 129:e192–e193. 2020.
263	Papageorgiou L, Andreou A, Zervou M, Vlachakis D, Goulielmos GN and Eliopoulos E: A global population genomic analysis shows novel insights into the genetic characteristics of endometriosis. World Acad Sci J. 5:122023.
264	Shomron N and Levy C: MicroRNA-biogenesis and pre-mRNA splicing crosstalk. J Biomed Biotechnol. 2009:5946782009.
265	Gregory RI, Yan KP, Amuthan G, Chendrimada T, Doratotaj B, Cooch N and Shiekhattar R: The Microprocessor complex mediates the genesis of microRNAs. Nature. 432:235–240. 2004.
266	Bendifallah S, Suisse S, Puchar A, Delbos L, Poilblanc M, Descamps P, Golfier F, Jornea L, Bouteiller D, Touboul C, et al: Salivary MicroRNA signature for diagnosis of endometriosis. J Clin Med. 11:6122022.
267	Sutton S, Clutterbuck A, Harris P, Gent T, Freeman S, Foster N, Barrett-Jolley R and Mobasheri A: The contribution of the synovium, synovial derived inflammatory cytokines and neuropeptides to the pathogenesis of osteoarthritis. Vet J. 179:10–24. 2009.
268	Gaffen SL, Jain R, Garg AV and Cua DJ: The IL-23-IL-17 immune axis: From mechanisms to therapeutic testing. Nat Rev Immunol. 14:585–600. 2014.
269	Barrera MJ, Aguilera S, Castro I, Matus S, Carvajal P, Molina C, González S, Jara D, Hermoso M and González MJ: Tofacitinib counteracts IL-6 overexpression induced by deficient autophagy: Implications in Sjögren's syndrome. Rheumatology (Oxford). 60:1951–1962. 2021.
270	Kim BG, Yoo JY, Kim TH, Shin JH, Langenheim JF, Ferguson SD, Fazleabas AT, Young SL, Lessey BA and Jeong JW: Aberrant activation of signal transducer and activator of transcription-3 (STAT3) signaling in endometriosis. Hum Reprod. 30:1069–1078. 2015.
271	Kotlyar AM, Mamillapalli R, Flores VA and Taylor HS: Tofacitinib alters STAT3 signaling and leads to endometriosis lesion regression. Mol Hum Reprod. 27:gaab0162021.
272	Iwabe T, Harada T, Tsudo T, Nagano Y, Yoshida S, Tanikawa M and Terakawa N: Tumor necrosis factor-alpha promotes proliferation of endometriotic stromal cells by inducing interleukin-8 gene and protein expression. J Clin Endocrinol Metab. 85:824–829. 2000.
273	Xue YH, You LT, Ting HF, Chen YW, Sheng ZY, Xie YD, Wang YH, Chiou JY and Wei JC: Increased risk of rheumatoid arthritis among patients with endometriosis: A nationwide population-based cohort study. Rheumatology (Oxford). 60:3326–3333. 2021.
274	Mohler KM, Torrance DS, Smith CA, Goodwin RG, Stremler KE, Fung VP, Madani H and Widmer MB: Soluble tumor necrosis factor (TNF) receptors are effective therapeutic agents in lethal endotoxemia and function simultaneously as both TNF carriers and TNF antagonists. J Immunol. 151:1548–1561. 1993.
275	Braun DP, Ding J and Dmowski WP: Peritoneal fluid-mediated enhancement of eutopic and ectopic endometrial cell proliferation is dependent on tumor necrosis factor-alpha in women with endometriosis. Fertil Steril. 78:727–732. 2002.
276	Zandbelt MM, de Wilde P, van Damme P, Hoyng CB, van de Putte L and van den Hoogen F: Etanercept in the treatment of patients with primary Sjögren's syndrome: a pilot study. J Rheumatol. 31:96–101. 2004.
277	Sankar V, Brennan MT, Kok MR, Leakan RA, Smith JA, Manny J, Baum BJ and Pillemer SR: Etanercept in Sjögren's syndrome: A twelve-week randomized, double-blind, placebo-controlled pilot clinical trial. Arthritis Rheum. 50:2240–2245. 2004.
278	Moutsopoulos NM, Katsifis GE, Angelov N, Leakan RA, Sankar V, Pillemer S and Wahl SM: Lack of efficacy of etanercept in Sjögren syndrome correlates with failed suppression of tumour necrosis factor alpha and systemic immune activation. Ann Rheum Dis. 67:1437–1443. 2008.
279	Mariette X, Ravaud P, Steinfeld S, Baron G, Goetz J, Hachulla E, Combe B, Puéchal X, Pennec Y, Sauvezie B, et al: Inefficacy of infliximab in primary Sjögren's syndrome: Results of the randomized, controlled trial of remicade in primary Sjögren's syndrome (TRIPSS). Arthritis Rheum. 50:1270–1276. 2004.
280	Falconer H, Mwenda JM, Chai DC, Wagner C, Song XY, Mihalyi A, Simsa P, Kyama C, Cornillie FJ, Bergqvist A, et al: Treatment with anti-TNF monoclonal antibody (c5N) reduces the extent of induced endometriosis in the baboon. Hum Reprod. 21:1856–1862. 2006.
281	Bardi M, Cornolti S, Iliakis A, Scorpiniti A and Vitali M: Endometriosis therapy: Not only hormones and surgery-the importance of a holistic approach. Am J Biomed Sci Res. 18:0025102023.