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Rheumatology Advance Access originally published online on January 3, 2008
Rheumatology 2008 47(2):158-164; doi:10.1093/rheumatology/kem321
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© The Author 2008. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

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

H. Miyagawa1, M. Yamai2, D. Sakaguchi2, C. Kiyohara3, H. Tsukamoto1, Y. Kimoto1, T. Nakamura4, J.-H. Lee5, C.-Y. Tsai6, B.-L. Chiang5, T. Shimoda7, M. Harada1, T. Tahira2, K. Hayashi2 and T. Horiuchi1

1Department of Medicine and Biosystemic Science, Graduate School of Medical Sciences, 2Medical Institute of Bioregulation, 3Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, 4Kumamoto Center for Arthritis and Rheumatology, Kumamoto, Japan, 5Department of Pediatrics, National Taiwan University Hospital, 6Department of Medicine, Taipei Veterans General Hospital and National Yang-Ming University School of Medicine, Taipei, Taiwan and 7Department of Clinical Research, Fukuoka National Hospital, Fukuoka, Japan.

Correspondence to: T. Horiuchi, Department of Medicine and Biosystemic Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan. E-mail: horiuchi{at}intmed1.med.kyushu-u.ac.jp


  Abstract

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.

KEY WORDS: Complement C3, Systemic lupus erythematosus, Genetic analysis, Case–control study, SSCP

Submitted 1 May 2007; revised version accepted 1 November 2007.
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