Association of GWAS-supported loci rs2107595 in HDAC9 gene with ischemic stroke in southern Han Chinese

Stroke is a multi-factorial disorder and has become the leading cause of death and disability worldwide. Recent genome-wide association studies (GWAS) have identified a significant association of single-nucleotide polymorphism (SNP) rs2107595 in HDAC9 gene with large-vessel ischaemic stroke (IS) in the European populations. The aim of this study is to examine the association of HDAC9 gene rs2107595 polymorphism with the susceptibility of IS in southern Han Chinese. A case-control study was conducted in Chinese Han population, with a total of 1632 subjects including 816 stroke patients and 816 controls. Sequenom MassARRAY iPLEX was used to genotype the SNP rs2107595 in HDAC9 gene. Genetic association analysis between genotypes and risk of IS was evaluated by PLINK program. No significant association was found between the SNP rs2107595 and IS in the additive, dominant, recessive and allelic models (all p>0.050). For IS-related quantitative traits in the sex-stratified analysis, the results showed a significant association between rs2107595 and serum TG level of males in the additive model (padj=0.008) and the dominant model (padj=0.003), and a significant association of rs2107595 polymorphism with serum TC level of females in the additive model (padj=0.045) and the dominant model (padj=0.037). Our results indicate that HDAC9 variant rs2107595 may be not associated with IS risk in southern Han Chinese. However, the rs2107595 polymorphism may be associated with serum TC and TG level of IS patients. •We first investigate the association of SNP rs2107595 with IS in Han Chinese.•HDAC9 variant rs2107595 may not be associated with IS risk in southern Han Chinese.•The SNP rs2107595 may be associated with serum TC and TG level of IS patients.