206: Significant association of a genetic variant in IL-37 with coronary artery disease in the Chinese Han Population

The Interleukin 1 family (IL-1 family) plays an important role in the immune and inflammatory responses in the human. Coronary artery disease (CAD) is a highly heritable inflammatory complex disease. The genetic role of IL-37, seventh member of IL-1 family in CAD has not been completely clarified. Our goal is to investigate whether SNP rs3811047 in the gene encoding cytokine IL-37 is associated with CAD in the Chinese Han Population. We performed the association analyses between rs3811047 and CAD in three-stage cohorts from three geographically different regions of China on a total of 2,460 individuals with CAD and 3,483 controls. Quantitative RT-PCR(qRT-PCR) analysis was performed to identify if IL-37 mRNA expression level was influenced by rs3811047. The minor allele A of rs3811047 was significantly associated with CAD in three independent cohorts in a genotypic model, with Padj = 0.03 (OR = 1.24) in the GeneID North Cohort, Padj = 0.01 (OR = 1.56) in the GeneID Central Cohort and Padj = 5.00 × 10 −3 (OR = 1.15) in the GeneID East Cohort. The association became more significant in the combined cohorts ( P obs  = 2.06 × 10 −6 , P adj  = 1.38 × 10 −5 under an additive model; P obs  = 1.50 × 10 −6 , P adj  = 5.71 × 10 −5 under a dominant model; P obs  = 6.06 × 10 −5 , P adj  = 1.15 × 10 −3 under a recessive model). Allele A of rs3811047 showed significant association with an decreased mRNA expression level IL-37 ( n = 168 , P = 3.78 × 10 - 4 ). Based on the genetic evidence we have shown, the IL37 appears to have a genetic effect in the development of CAD, highlighting is a potential target for the prevention and treatment of CAD.