Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 包立怡教授 (药剂学院) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1177/0961203311422724 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/14WOS source URL
Scopushttp://aims.cuhk.edu.hk/converis/portal/Publication/18Scopus source URL
其它资讯
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.
着者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.
期刊名称Lupus
出版年份2012
月份1
日期1
卷号21
期次1
出版社SAGE Publications
出版地United States
页次75 - 83
国际标準期刊号0961-2033
电子国际标準期刊号http://aims.cuhk.edu.hk/converis/portal/Publication/1477-0962
语言英式英语
关键词Asian, association, CD247, GWAS, systemic lupus erythematosus
