Association of FAS gene polymorphisms with systemic lupus erythematosus: A case-control study and meta-analysis

Lu,Man-Man; Ye,Qian-Ling; Feng,Chen-Chen; Yang,Jie; Zhang,Tao; Li,Jing; Leng,Rui-Xue; Pan,Hai-Feng; Yuan,Hui; Ye,Dong-Qing

doi:10.3892/etm.2012.625

Association of FAS gene polymorphisms with systemic lupus erythematosus: A case-control study and meta-analysis

Authors:
- Man-Man Lu
- Qian-Ling Ye
- Chen-Chen Feng
- Jie Yang
- Tao Zhang
- Jing Li
- Rui-Xue Leng
- Hai-Feng Pan
- Hui Yuan
- Dong-Qing Ye
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Affiliations: Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui 230032, P.R. China , The Second Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230601, P.R. China , Anhui Center for Disease Control and Prevention, Hefei, Anhui 230601, P.R. China, Department of Preventive Medicine, Wannan Medical College, Wuhu, Anhui 241002, P.R. China, Anhui Provincial Laboratory of Population Health and Major Disease Screening and Diagnosis, Anhui Medical University, Hefei, Anhui 230032, P.R. China
Published online on: June 28, 2012 https://doi.org/10.3892/etm.2012.625
Pages: 497-502

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Abstract

The association of functional polymorphisms in the promoter of the apoptosis gene FAS with systemic lupus erythematosus (SLE) susceptibility has been a controversial subject. We conducted a case-control study to investigate this association in a Chinese population and performed a meta-analysis in different populations. The single nucleotide polymorphisms (SNPs) rs2234767 (-1377G>A) and rs1800682 (-670A>G) were genotyped by TaqMan allelic discrimination assays in 552 Chinese SLE patients and 718 healthy controls. In our case-control study, we observed allelic association between the promoter SNP rs2234767 [P=0.033, odds ratio (OR)=0.836, 95% confidence interval (CI), 0.709-0.986] and SLE but not the SNP rs1800682. Haplotype analysis revealed that one haplotype of GA was significantly associated with the disease (P=0.039, OR=1.184, 95% CI, 1.009-1.391). In the meta‑analysis available studies, including our data, were combined using the STATA software package v.7.0. The meta-analysis revealed a significant association between FAS polymorphisms and SLE (rs2234767 A vs. G allele; P=0.004, OR=0.819, 95% CI, 0.715-0.938, rs1800682 G vs. A allele: P=0.034, OR=0.791, 95% CI, 0.637-0.983). In conclusion, FAS gene polymorphisms may contribute to SLE susceptibility in the Chinese population, and the meta-analysis shows that FAS polymorphisms may be associated with SLE susceptibility in different populations.

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1.	Akahoshi M, Nakashima H and Shirakawa T: Roles of genetic variations in signaling/immunoregulatory molecules in susceptibility to systemic lupus erythematosus. Semin Immunol. 18:224–229. 2006. View Article : Google Scholar : PubMed/NCBI
2.	Kaplan MJ: Apoptosis in systemic lupus erythematosus. Clin Immunol. 112:210–218. 2004. View Article : Google Scholar : PubMed/NCBI
3.	Sheriff A, Gaipl US, Voll RE, Kalden JR and Herrmann M: Apoptosis and systemic lupus erythematosus. Rheum Dis Clin North Am. 30:505–527. 2004. View Article : Google Scholar
4.	Emlen W, Niebur J and Kadera R: Accelerated in vitro apoptosis of lymphocytes from patients with systemic lupus erythematosus. J Immunol. 152:3685–3692. 1994.PubMed/NCBI
5.	Ren Y, Tang J, Mok MY, et al: Increased apoptotic neutrophils and macrophages and impaired macrophage phagocytic clearance of apoptotic neutrophils in systemic lupus erythematosus. Arthritis Rheum. 48:2888–2897. 2003. View Article : Google Scholar : PubMed/NCBI
6.	Shoshan Y, Shapira I, Toubi E, et al: Accelerated Fas-mediated apoptosis of monocytes and maturing macrophages from patients with systemic lupus erythematosus: relevance to in vitro impairment of interaction with IC3b-opsonized apoptotic cells. J Immunol. 167:5963–5969. 2001. View Article : Google Scholar
7.	Leithäuser F, Dhein J, Mechtersheimer G, et al: Constitutive and induced expression of APO-1, a new member of the nerve growth factor/tumor necrosis factor receptor superfamily, in normal and neoplastic cells. Lab Invest. 69:415–429. 1993.
8.	Papo T, Parizot C, Ortova M, et al: Apoptosis and expression of soluble Fas mRNA in systemic lupus erythematosus. Lupus. 7:455–461. 1998. View Article : Google Scholar : PubMed/NCBI
9.	Navratil JS and Ahearn JM: Apoptosis and autoimmunity: complement deficiency and systemic lupus erythematosus revisited. Curr Rheumatol Rep. 2:32–38. 2000. View Article : Google Scholar : PubMed/NCBI
10.	Inazawa J, Itoh N, Abe T and Nagata S: Assignment of the human Fas antigen gene (FAS) to 10q24.1. Genomics. 14:821–822. 1992. View Article : Google Scholar : PubMed/NCBI
11.	Molin S, Weiss EH, Ruzicka T and Messer G: The FAS/cd95 promoter single-nucleotide polymorphism −670 A/G and lupus erythematosus. Clin Exp Dermatol. 37:425–427. 2012.PubMed/NCBI
12.	Arasteh JM, Sarvestani EK, Aflaki E and Amirghofran Z: Fas gene polymorphisms in systemic lupus erythematosus and serum levels of some apoptosis-related molecules. Immunol Invest. 39:27–38. 2010. View Article : Google Scholar : PubMed/NCBI
13.	Kanemitsu S, Ihara K, Saifddin A, et al: A functional polymorphism in fas (CD95/APO-1) gene promoter associated with systemic lupus erythematosus. J Rheumatol. 29:1183–1188. 2002.PubMed/NCBI
14.	Lee YH, Kim YR, Ji JD, et al: Fas promoter −670 polymorphism is associated with development of anti-RNP antibodies in systemic lupus erythematosus. J Rheumatol. 28:2008–2011. 2001.
15.	Huang QR, Danis V, Lassere M, Edmonds J and Manolios N: Evaluation of a new Apo-1/Fas promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus patients. Rheumatology (Oxford). 38:645–651. 1999. View Article : Google Scholar : PubMed/NCBI
16.	Huang QR and Manolios N: Investigation of the −1377 polymorphism on the Apo-1/Fas promoter in systemic lupus erythematosus patients using allele-specific amplification. Pathology. 32:126–130. 2000.
17.	Hochberg MC: Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 40:17251997. View Article : Google Scholar : PubMed/NCBI
18.	Shi YY and He L: SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 15:97–98. 2005. View Article : Google Scholar : PubMed/NCBI
19.	Higgins JP and Thompson SG: Quantifying heterogeneity in a meta-analysis. Stat Med. 21:1539–1558. 2002. View Article : Google Scholar : PubMed/NCBI
20.	Mantel N and Haenszel W: Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst. 22:719–748. 1959.PubMed/NCBI
21.	DerSimonian R and Laird N: Meta-analysis in clinical trials. Control Clin Trials. 7:177–188. 1986. View Article : Google Scholar : PubMed/NCBI
22.	Egger M, Davey Smith G, Schneider M and Minder C: Bias in meta-analysis detected by a simple, graphical test. BMJ. 315:629–634. 1997. View Article : Google Scholar : PubMed/NCBI
23.	Bijl M, Horst G, Limburg PC and Kallenberg CG: Fas expression on peripheral blood lymphocytes in systemic lupus erythematosus (SLE): relation to lymphocyte activation and disease activity. Lupus. 10:866–872. 2001. View Article : Google Scholar : PubMed/NCBI
24.	Huang QR, Morris D and Manolios N: Identification and characterization of polymorphisms in the promoter region of the human Apo-1/Fas (CD95) gene. Mol Immunol. 34:577–582. 1997. View Article : Google Scholar : PubMed/NCBI
25.	Sibley K, Rollinson S, Allan JM, et al: Functional FAS promoter polymorphisms are associated with increased risk of acute myeloid leukemia. Cancer Res. 63:4327–4330. 2003.PubMed/NCBI
26.	Look DC, Pelletier MR, Tidwell RM, et al: Stat1 depends on transcriptional synergy with Sp1. J Biol Chem. 270:30264–30267. 1995. View Article : Google Scholar : PubMed/NCBI