Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis

Siokas,Vasileios; Aloizou,Athina-Maria; Liampas,Ioannis; Bakirtzis,Christos; Nasios,Grigorios; Paterakis,Konstantinos; Sgantzos,Markos; Bogdanos,Dimitrios P.; Spandidos,Demetrios A.; Tsatsakis,Aristidis; Mitsias,Panayiotis D.; Dardiotis,Efthimios

doi:10.3892/mmr.2022.12662

Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis

Authors:
- Vasileios Siokas
- Athina-Maria Aloizou
- Ioannis Liampas
- Christos Bakirtzis
- Grigorios Nasios
- Konstantinos Paterakis
- Markos Sgantzos
- Dimitrios P. Bogdanos
- Demetrios A. Spandidos
- Aristidis Tsatsakis
- Panayiotis D. Mitsias
- Efthimios Dardiotis
View Affiliations

Affiliations: Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41100 Larissa, Greece, B' Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece, Department of Speech and Language Therapy, University of Ioannina, 45500 Ioannina, Greece, Department of Neurosurgery, University Hospital of Larissa, Medical School, University of Thessaly, 41100 Larissa, Greece, Department of Rheumatology and Clinical Immunology, University General Hospital of Larissa, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41100 Larissa, Greece, Laboratory of Clinical Virology, School of Medicine, University of Crete, 71003 Heraklion, Greece, Laboratory of Toxicology, School of Medicine, University of Crete, 71003 Heraklion, Greece, Department of Neurology, School of Medicine, University of Crete, 71003 Heraklion, Greece
Published online on: March 1, 2022 https://doi.org/10.3892/mmr.2022.12662
Article Number: 146
Copyright: © Siokas 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

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease. Through a genome‑wide association study (GWAS), the Sec1 family domain‑containing protein 1 (SCFD1) rs10139154 variant at 14q12 has emerged as a risk factor gene for ALS. Moreover, it has been reported to influence the age at onset (AAO) of patients with ALS. The aim of the present study was to assess the association of the SCFD1 rs10139154 polymorphism with the risk of developing ALS. For this purpose, 155 patients with sporadic ALS and 155 healthy controls were genotyped for the SCFD1 rs10139154. The effect of the SCFD1 rs10139154 polymorphism was then examined on the following parameters: i) The risk of developing ALS; ii) the AAO of ALS; iii) the site of ALS onset (patients with bulbar onset ALS vs. healthy controls; and patients with limb onset ALS vs. healthy controls); and iv) the AAO of ALS onset with subgroup analyses based on the site of onset (bulbar and limb, crude and adjusted for sex). The analysis of all the outcomes was performed assuming five genetic models. Crude and adjusted analyses were applied. The threshold for statistical significance was set at 0.05. The results revealed no association between SCFD1 rs10139154 and any of the examined phenotypes in any of the models examined. On the whole, based on the findings of the present study, SCFD1 rs10139154 does not appear to play a determining role in the risk of developing ALS.

View Figures

View References

1	Kojima Y, Kasai T, Noto YI, Ohmichi T, Tatebe H, Kitaoji T, Tsuji Y, Kitani-Morii F, Shinomoto M, Allsop D, et al: Amyotrophic lateral sclerosis: Correlations between fluid biomarkers of NfL, TDP-43, and tau, and clinical characteristics. PLoS One. 16:e02603232021. View Article : Google Scholar : PubMed/NCBI
2	Manjaly ZR, Scott KM, Abhinav K, Wijesekera L, Ganesalingam J, Goldstein LH, Janssen A, Dougherty A, Willey E, Stanton BR, et al: The sex ratio in amyotrophic lateral sclerosis: A population based study. Amyotroph Lateral Scler. 11:439–442. 2010. View Article : Google Scholar : PubMed/NCBI
3	Marin B, Boumédiene F, Logroscino G, Couratier P, Babron MC, Leutenegger AL, Copetti M, Preux PM and Beghi E: Variation in worldwide incidence of amyotrophic lateral sclerosis: A meta-analysis. Int J Epidemiol. 46:57–74. 2017.PubMed/NCBI
4	Mitsumoto H, Przedborski S and Gordon PH: Amyotrophic Lateral Sclerosis. CRC Press; pp. p8722005, PubMed/NCBI
5	Masrori P and Van Damme P: Amyotrophic lateral sclerosis: A clinical review. Eur J Neurol. 27:1918–1929. 2020. View Article : Google Scholar : PubMed/NCBI
6	Niedermeyer S, Murn M and Choi PJ: Respiratory failure in amyotrophic lateral sclerosis. Chest. 155:401–408. 2019. View Article : Google Scholar : PubMed/NCBI
7	Abramzon YA, Fratta P, Traynor BJ and Chia R: The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia. Front Neurosci. 14:422020. View Article : Google Scholar : PubMed/NCBI
8	Ahmed RM, Devenney EM, Strikwerda-Brown C, Hodges JR, Piguet O and Kiernan MC: Phenotypic variability in ALS-FTD and effect on survival. Neurology. 94:e2005–e2013. 2020. View Article : Google Scholar : PubMed/NCBI
9	Saberi S, Stauffer JE, Schulte DJ and Ravits J: Neuropathology of amyotrophic lateral sclerosis and its variants. Neurol Clin. 33:855–876. 2015. View Article : Google Scholar : PubMed/NCBI
10	Mejzini R, Flynn LL, Pitout IL, Fletcher S, Wilton SD and Akkari PA: ALS genetics, mechanisms, and therapeutics: Where are we now? Front Neurosci. 13:13102019. View Article : Google Scholar : PubMed/NCBI
11	Dardiotis E, Aloizou AM, Siokas V, Patrinos GP, Deretzi G, Mitsias P, Aschner M and Tsatsakis A: The role of MicroRNAs in patients with amyotrophic lateral sclerosis. J Mol Neurosci. 66:617–628. 2018. View Article : Google Scholar : PubMed/NCBI
12	Dardiotis E, Siokas V, Sokratous M, Tsouris Z, Aloizou AM, Florou D, Dastamani M, Mentis AA and Brotis AG: Body mass index and survival from amyotrophic lateral sclerosis: A meta-analysis. Neurol Clin Pract. 8:437–444. 2018. View Article : Google Scholar : PubMed/NCBI
13	Hardiman O, Al-Chalabi A, Chio A, Corr EM, Logroscino G, Robberecht W, Shaw PJ, Simmons Z and van den Berg LH: Amyotrophic lateral sclerosis. Nat Rev Dis Primers. 3:170712017. View Article : Google Scholar : PubMed/NCBI
14	Siokas V, Aloizou AM and Pateraki G: Chapter 21 - Toxicology of neurodegenerative diseases. Toxicological Risk Assessment and Multi-System Health Impacts from Exposure. Tsatsakis AM: Academic Press; pp. 247–258. 2021, View Article : Google Scholar
15	Dardiotis E, Siokas V, Sokratous M, Tsouris Z, Michalopoulou A, Andravizou A, Dastamani M, Ralli S, Vinceti M, Tsatsakis A and Hadjigeorgiou GM: Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants. Environ Int. 116:122–135. 2018. View Article : Google Scholar : PubMed/NCBI
16	Tsatsakis AM: Toxicological Risk Assessment and Multi-System Health Impacts from Exposure. Elsevier; 2021, View Article : Google Scholar
17	Mathis S, Goizet C, Soulages A, Vallat JM and Masson GL: Genetics of amyotrophic lateral sclerosis: A review. J Neurol Sci. 399:217–226. 2019. View Article : Google Scholar : PubMed/NCBI
18	Oskarsson B, Gendron TF and Staff NP: Amyotrophic lateral sclerosis: An update for 2018. Mayo Clin Proc. 93:1617–1628. 2018. View Article : Google Scholar : PubMed/NCBI
19	Li HF and Wu ZY: Genotype-phenotype correlations of amyotrophic lateral sclerosis. Transl Neurodegener. 5:32016. View Article : Google Scholar : PubMed/NCBI
20	Brown RH and Al-Chalabi A: Amyotrophic lateral sclerosis. N Engl J Med. 377:162–172. 2017. View Article : Google Scholar : PubMed/NCBI
21	Ghasemi M and Brown RH Jr: Genetics of amyotrophic lateral sclerosis. Cold Spring Harb Perspect Med. 8:a0241252018. View Article : Google Scholar : PubMed/NCBI
22	van Es MA, Hardiman O, Chio A, Al-Chalabi A, Pasterkamp RJ, Veldink JH and van den Berg LH: Amyotrophic lateral sclerosis. Lancet. 390:2084–2098. 2017. View Article : Google Scholar : PubMed/NCBI
23	Hou N, Yang Y, Scott IC and Lou X: The Sec domain protein Scfd1 facilitates trafficking of ECM components during chondrogenesis. Dev Biol. 421:8–15. 2017. View Article : Google Scholar : PubMed/NCBI
24	Stamati P, Siokas V, Aloizou AM, Karampinis E, Arseniou S, Rakitskii VN, Tsatsakis A, Spandidos DA, Gozes I, Mitsias PD, et al: Does SCFD1 rs10139154 polymorphism decrease Alzheimer's disease risk? J Mol Neurosci. 69:343–350. 2019. View Article : Google Scholar : PubMed/NCBI
25	Bando Y, Katayama T, Taniguchi M, Ishibashi T, Matsuo N, Ogawa S and Tohyama M: RA410/Sly1 suppresses MPP+ and 6-hydroxydopamine-induced cell death in SH-SY5Y cells. Neurobiol Dis. 18:143–151. 2005. View Article : Google Scholar : PubMed/NCBI
26	Carr CM and Rizo J: At the junction of SNARE and SM protein function. Curr Opin Cell Biol. 22:488–495. 2010. View Article : Google Scholar : PubMed/NCBI
27	van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, et al: Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet. 48:1043–1048. 2016. View Article : Google Scholar : PubMed/NCBI
28	Chen Y, Zhou Q, Gu X, Wei Q, Cao B, Liu H, Hou Y and Shang H: An association study between SCFD1 rs10139154 variant and amyotrophic lateral sclerosis in a Chinese cohort. Amyotroph Lateral Scler Frontotemporal Degener. 19:413–418. 2018. View Article : Google Scholar : PubMed/NCBI
29	Ludolph A, Drory V, Hardiman O, Nakano I, Ravits J, Robberecht W and Shefner J; WFN Research Group On ALS/MND, : A revision of the El Escorial criteria-2015. Amyotroph Lateral Scler Frontotemporal Degener. 16:291–292. 2015. View Article : Google Scholar : PubMed/NCBI
30	Dardiotis E, Karampinis E, Siokas V, Aloizou AM, Rikos D, Ralli S, Papadimitriou D, Bogdanos DP and Hadjigeorgiou GM: ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population. Neurol Sci. 40:1237–1244. 2019. View Article : Google Scholar : PubMed/NCBI
31	Siokas V, Aloizou AM, Liampas I, Tsouris Z, Mentis AA, Nasios G, Papadimitriou D, Bogdanos DP, Hadjigeorgiou GM and Dardiotis E: Lack of association between TREM2 rs75932628 variant and amyotrophic lateral sclerosis. Mol Biol Rep. 48:2601–2610. 2021. View Article : Google Scholar : PubMed/NCBI
32	Siokas V, Karampinis E, Aloizou AM, Mentis AA, Liakos P, Papadimitriou D, Liampas I, Nasios G, Bogdanos DP, Hadjigeorgiou GM and Dardiotis E: CYP1A2 rs762551 polymorphism and risk for amyotrophic lateral sclerosis. Neurol Sci. 42:175–182. 2021. View Article : Google Scholar : PubMed/NCBI
33	Liampas I, Siokas V, Aloizou AM, Bakirtzis C, Tsouris Z, Nousia A, Nasios G, Papadimitriou D, Liakos P, Bogdanos DP, et al: MOBP rs616147 polymorphism and risk of amyotrophic lateral sclerosis in a greek population: A case-control study. Medicina (Kaunas). 57:13372021. View Article : Google Scholar : PubMed/NCBI
34	Siokas V, Kardaras D, Aloizou AM, Asproudis I, Boboridis KG, Papageorgiou E, Hadjigeorgiou GM, Tsironi EE and Dardiotis E: BDNF rs6265 (Val66Met) polymorphism as a risk factor for blepharospasm. Neuromolecular Med. 21:68–74. 2019. View Article : Google Scholar : PubMed/NCBI
35	Siokas V, Aslanidou P, Aloizou AM, Peristeri E, Stamati P, Liampas I, Arseniou S, Drakoulis N, Aschner M, Tsatsakis A, et al: Does the CD33 rs3865444 polymorphism confer susceptibility to Alzheimer's disease? J Mol Neurosci. 70:851–860. 2020. View Article : Google Scholar : PubMed/NCBI
36	Solé X, Guinó E, Valls J, Iniesta R and Moreno V: SNPStats: A web tool for the analysis of association studies. Bioinformatics. 22:1928–1929. 2006. View Article : Google Scholar : PubMed/NCBI
37	GTEx Consortium: The genotype-tissue expression (GTEx) project. Nat Genet. 45:580–585. 2013. View Article : Google Scholar : PubMed/NCBI
38	Iacoangeli A, Fogh I, Selvackadunco S, Topp SD, Shatunov A, van Rheenen W, Al-Khleifat A, Opie-Martin S, Ratti A, Calvo A, et al: SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed. Brain Commun. 3:fcab2362021. View Article : Google Scholar : PubMed/NCBI
39	Keon M, Musrie B, Dinger M, Brennan SE, Santos J and Saksena NK: Destination amyotrophic lateral sclerosis. Front Neurol. 12:5960062021. View Article : Google Scholar : PubMed/NCBI
40	Kiernan MC, Vucic S, Talbot K, McDermott CJ, Hardiman O, Shefner JM, Al-Chalabi A, Huynh W, Cudkowicz M, Talman P, et al: Improving clinical trial outcomes in amyotrophic lateral sclerosis. Nat Rev Neurol. 17:104–118. 2021. View Article : Google Scholar : PubMed/NCBI
41	Amado DA and Davidson BL: Gene therapy for ALS: A review. Mol Ther. 29:3345–3358. 2021. View Article : Google Scholar : PubMed/NCBI
42	Yuan W, Beaulieu-Jones BK, Yu KH, Lipnick SL, Palmer N, Loscalzo J, Cai T and Kohane IS: Temporal bias in case-control design: Preventing reliable predictions of the future. Nat Commun. 12:11072021. View Article : Google Scholar : PubMed/NCBI