Association of CD247 with systemic lupus erythematosus in Asian populations
Publication in refereed journal

香港中文大學研究人員
替代計量分析
.

其它資訊
摘要Objective: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. CD247 (CD3Z, TCRZ) plays a vital role in antigen recognition and signal transduction in antigen-specific immune responses, and is known to be involved in SLE pathogenesis. Weak disease association was reported for genetic variants in this gene in Caucasian studies for SLE, Crohn's disease and systemic sclerosis, but its role as a genetic risk factor was never firmly established. Methods: In this study, using a collection of 612 SLE patients and 2193 controls of Chinese ethnicity living in Hong Kong in a genome-wide study, single nucleotide polymorphisms (SNPs) in and around CD247 were identified as being associated with SLE. The two most significant SNPs in this locus were selected for further replication using TaqMan genotyping assay in 3339 Asian patients from Hong Kong, Mainland China, and Thailand, as well as 4737 ethnically and geographically matched controls. Results: The association of CD247 with SLE in Asian populations was confirmed (rs704853: odds ratio [OR] = 0. 81, p = 2.47 × 10-7; rs858543: OR = 1.10, p = 0.0048). Patient-only analysis suggested that rs704853 is also linked to oral ulcers, hematologic disorders and anti-double-stranded DNA (dsDNA) antibody production. Conclusion: A significant association between variants in CD247 and SLE was demonstrated in Asian populations. Understanding the involvement of CD247 in SLE may shed new light on disease mechanisms and development of new treatment paradigms. © The Author(s), 2011.
著者Li R., Yang W., Zhang J., Hirankarn N., Pan H.-F., Mok C.C., Chan T.M., Wong R., Mok M.Y., Lee K.W., Wong S.N., Leung A., Li X.-P., Avihingsanon Y., Lee T.L., Ho M., Lee P., Wong W., Wong C.-M., Ng I., Yang J., Li P.H., Zhang Y., Zhang L., Li W., Baum L., Kwan P., Rianthavorn P., Deekajorndej T., Suphapeetiporn K., Shotelersuk V., Garcia-Barcelo M.-M., Cherny S.S., Tam P.-H., Sham P.C., Lau C.S., Shen N., Lau Y.L., Ye D.-Q.
期刊名稱Lupus
出版年份2012
月份1
日期1
卷號21
期次1
出版社SAGE Publications
出版地United States
頁次75 - 83
國際標準期刊號0961-2033
電子國際標準期刊號1477-0962
語言英式英語
關鍵詞Asian, association, CD247, GWAS, systemic lupus erythematosus

上次更新時間 2021-15-09 於 04:50