Single nucleotide polymorphisms of IL12B are associated with Takayasu arteritis in Chinese Han population

Takayasu arteritis (TA) is a rare autoimmune disease of unknown etiology. Genome-wide association studies (GWAS) have demonstrated association between genetic variants of IL12B and IL6 and TA. Since TA has been reported with ethnic heterogeneity, we sought to investigate whether the single-nucleotide-polymorphisms (SNPs) reported in these studies are associated with TA in the Chinese Han population. A multi-center study involving 412 patients with TA and 597 healthy controls was conducted. Sequenom MassArray iPLEX platform was used to determine the frequencies of SNPs in the IL12B and IL6 region. We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26–1.83; rs4921492: OR 1.46, 95% CI 1.21–1.75; rs60689680: OR 1.41, 95% CI 1.17–1.69; rs4921493: OR 1.45, 95% CI 1.21–1.75, all P _c  < 10^− 3 ). A meta-analysis consist of four populations showed rs6871626 was a susceptible locus of TA. Its OR was 1.51, and 95% CI was 1.31–1.74. The four SNPs were in strong linkage disequilibrium and two haplotypes were significantly different between patients and controls. Conditional analysis shows that these SNPs were not independent factors contributing to TA. Nevertheless, neither genotype nor allele frequencies of rs2069837 in IL6 showed significant between-group differences. Thus SNP of IL12B may be considered a high-risk factor for TA in Chinese Han population and provide further clues for research into the pathogenesis of TA.