Absence of association between TRAF6 polymorphisms and systemic lupus erythematosus risk in Han Chinese females from northern China
Introduction: Tumor necrosis factor receptor-associated factor 6 (TRAF6) is a critical adaptor molecule central to immune homeostasis. It has been strongly implicated in the pathogenesis of inflammatory and autoimmune diseases. Prior research has identified TRAF6 as a genetic factor contributing to susceptibility to systemic lupus erythematosus (SLE) in various populations.
Objective: The present study aimed to validate whether two previously reported TRAF6 polymorphisms are associated with SLE risk in Han Chinese females from northern China.
Methods: Two single-nucleotide polymorphisms (SNPs) of the TRAF6 gene, namely rs4755453 and rs540386, were genotyped using the sequence-specific primer polymerase chain reaction method in a sample set consisting of 171 SLE patients and 235 healthy controls. The association between these SNPs and the risk of developing SLE was assessed using χ2 tests. The study also explored the correlations between these genetic variants and various clinical characteristics of SLE.
Results: Genotypic distribution of rs4755453 and rs540386 polymorphisms conformed to the Hardy–Weinberg equilibrium in both the patient and control groups. No significant associations were observed between SLE susceptibility and either individual TRAF6 SNPs or TRAF6 haplotypes.
Conclusion: The rs4755453 and rs540386 loci of the TRAF6 gene do not confer increased risk for SLE in Han Chinese females from Northern China. The absence of significant associations in this study, in contrast to positive correlations observed in other populations, underscores population-specific genetic heterogeneity in TRAF6-related susceptibility to SLE. To better understand these disparities, extensive validation studies encompassing multiple populations are necessary.
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