Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus

Objective. Identification of the genes responsible for systemic lupus erythematosus (SLE). Methods. All the exons and putative promoter regions of 53 candidate genes (TNFRSF6/Fas, TNFSF6/FasL, Fli1, TNFSF10/TRAIL, TNFSF12/TWEAK, Bcl-2, PTEN, FADD, TRADD, CDKN1A, TNFRSF1A/TNFR1, TNFRSF4/OX40, TNFSF4/...

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Published in:Rheumatology (Oxford, England) England), 2008-02, Vol.47 (2), p.158-164
Main Authors: Miyagawa, H., Yamai, M., Sakaguchi, D., Kiyohara, C., Tsukamoto, H., Kimoto, Y., Nakamura, T., Lee, J.-H., Tsai, C.-Y., Chiang, B.-L., Shimoda, T., Harada, M., Tahira, T., Hayashi, K., Horiuchi, T.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Case–control study
Complement C3
Complement C3 - genetics
Complement System Proteins - genetics
DNA - genetics
DNA - immunology
Exons
Gene Frequency
Genetic analysis
Genetic Predisposition to Disease
Genotype
Humans
Interleukins - genetics
Japan
Lupus Erythematosus, Systemic - genetics
Lupus Erythematosus, Systemic - immunology
Medical sciences
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Promoter Regions, Genetic
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
SSCP
Systemic lupus erythematosus
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Summary:Objective. Identification of the genes responsible for systemic lupus erythematosus (SLE). Methods. All the exons and putative promoter regions of 53 candidate genes (TNFRSF6/Fas, TNFSF6/FasL, Fli1, TNFSF10/TRAIL, TNFSF12/TWEAK, Bcl-2, PTEN, FADD, TRADD, CDKN1A, TNFRSF1A/TNFR1, TNFRSF4/OX40, TNFSF4/OX40L, TNFSF5/CD40L, TNFSF13B/BAFF, ICOS, CTLA4, CD28, FYN, G2A, CR2, PTPRC/CD45, CD22, CD19, Lyn, PDCD1, PTPN6, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGFBR3, CD3Z, DNASE1, APCS, MERTK, C3, C1QA, C1QB, C1QG, C2, MBL2, IGHM, IL-2, IL-4, IL-10, IFNG, TNFA, MAN2A1, TNFRSF11A/RANK, TNFRSF11B/OPG, TNFSF11/OPGL) were screened for single nucleotide polymorphisms (SNPs) and their association with SLE was assessed by case–control studies. A total of 509 cases and 964 controls of Japanese descent were enrolled. Results. A total of 316 SNPs was identified. When analysed in the Japanese population, the allele frequencies of T at rs7951 and G at rs2230201 of the C3 gene were 0.110 and 0.626, respectively, in SLE patients; significantly higher than the frequencies of 0.081 and 0.584, respectively, in controls [odds ratio (OR) = 1.40, 95% confidence interval (CI) = 1.05–1.86, P = 0.016 and OR=1.19, 95% CI = 1.01–1.41, P = 0.038, respectively]. The mean serum C3 level of carriers of the rs7951 T allele was significantly lower than that of non-carriers of the T allele in 87 SLE patients whose medical records were available (P = 0.0018). Conclusion. rs7951 T allele of the C3 gene was significantly associated with SLE, and decreased serum level of C3 seems to be correlated with this allele.
ISSN:1462-0324
1462-0332
DOI:10.1093/rheumatology/kem321