| Introduction 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.Objective The aim of this study was to assess the role of CD247 in the development of SLE in Asian subjects.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, we identified SNPs in and around CD247 to be associated with SLE. Two most significant SNPs in this locus were selected for further replication in 3339 Asian patients from Hong Kong, Mainland China, and Thailand, as well as 4737 ethnically- and geographically-matched controls. We genotyped SNPs using TaqMan assays.Results This study confirmed the association of CD247 with SLE in Asian populations (rs704853: odds ratio (OR) = 0. 81(0.75-0.88), P = 2.47 x 10-7; rs858543: OR = 1.10(1.03-1.18), P = 0.0048). Patient-only analysis suggested that rs704853 is also linked to oral ulcer, hematologic disorder and anti-ds-DNA antibody production. Conclusion This study demonstrated a significant association between variants in CD247 and SLE in Asian populations. Understanding the involvement of CD247 in SLE may shed new light on disease mechanisms and development of new treatment paradigms.
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