Journal
LUPUS
Volume 21, Issue 1, Pages 75-83Publisher
SAGE PUBLICATIONS LTD
DOI: 10.1177/0961203311422724
Keywords
CD247; GWAS; Asian; association; systemic lupus erythematosus
Categories
Funding
- Shun Tak District Min Yuen Tong of Hong Kong
- Research Grant Council of Hong Kong [GRF HKU781709M, HKU 7623/08M, HKU 7747/07M, HKU775608M]
- National Natural Science Foundation of China [30830089]
- National Research Council of Thailand
- Edward the Sai Kim Hotung Paediatric Education and Research Fund
- University Postgraduate Studentship
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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 x 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. Lupus (2012) 21, 75-83.
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