Missense polymorphisms within IL-10R1 exons are not associated with systemic lupus erythematosus in Chinese

Objective: Studies have suggested that interleukin-10 receptor1 (IL-10R1) is involved in genetic susceptibility to systemic lupus erythematosus (SLE) in animal models and Caucasians. Therefore, the current study was designed to determine whether the IL-10R1 gene plays a role in the pathogenesis of human SLE in the Chinese Han population. Methods: The seven exons of the IL-10R1 gene were amplified and sequenced using a BigDye Terminator v1.1 Cycle Sequencing kit and an ABI 3100 DNA Analyzer. A missense single nucleotide polymorphism (SNP) locus with a minor allele frequency of at least 0.1 was chosen to evaluate the correlation with the incidence of SLE. Results: Seven SNPs were found to reside in the exons of the IL-10R1 gene. Among the SNPs, A744G was evaluated for a correlation with the incidence of SLE because A744G was the only missense SNP with a minor allele frequency of at least 0.1. There was no significant difference in the distribution of the A and G alleles between the SLE patient group and the healthy control group (P = 0.693). Furthermore, the genotype frequencies of A744A, A744G and G744G did not differ significantly between the two groups (P = 0.906). Conclusion: In the Chinese Han population, missense SNPs within the exons of the IL-10R1 gene do not contribute to the development of SLE.