https://scholars.lib.ntu.edu.tw/handle/123456789/525030
標題: | Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus | 作者: | Miyagawa H. Yamai M. Sakaguchi D. Kiyohara C. Tsukamoto H. Kimoto Y. Nakamura T. JYH-HONG LEE Tsai C.-Y. BOR-LUEN CHIANG Shimoda T. Harada M. Tahira T. Hayashi K. Horiuchi T. |
公開日期: | 2008 | 卷: | 47 | 期: | 2 | 起(迄)頁: | 158-164 | 來源出版物: | Rheumatology | 摘要: | 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. ? The Author 2008. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-38649122402&doi=10.1093%2frheumatology%2fkem321&partnerID=40&md5=ef87abe4412545451c3d290355e806dc https://scholars.lib.ntu.edu.tw/handle/123456789/525030 |
ISSN: | 1462-0324 | DOI: | 10.1093/rheumatology/kem321 | SDG/關鍵字: | CD134 antigen; CD28 antigen; CD40 ligand; complement component C3; cyclin dependent kinase inhibitor 1A; cytotoxic T lymphocyte antigen 4; deoxyribonuclease I; Fas antigen; Fas associated death domain protein; Fas ligand; interleukin 10; interleukin 2; interleukin 4; mannose binding lectin 2; osteoclast differentiation factor; osteoprotegerin; phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase; protein bcl 2; protein kinase Fyn; transcription factor Fli 1; tumor necrosis factor receptor 1; tumor necrosis factor related apoptosis inducing ligand; article; case control study; confidence interval; controlled study; exon; female; gene frequency; gene function; gene locus; gene mutation; gene sequence; genetic analysis; genetic identification; genetic polymorphism; genetic screening; genetic susceptibility; genotype; human; immunopathogenesis; Japanese; major clinical study; male; nucleotide sequence; priority journal; promoter region; protein blood level; risk factor; single nucleotide polymorphism; systemic lupus erythematosus; Complement C3; Complement System Proteins; DNA; Exons; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Interleukins; Japan; Lupus Erythematosus, Systemic; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Polymorphism, Single-Stranded Conformational; Promoter Regions (Genetics) |
顯示於: | 醫學系 |
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