Association between two promoter polymorphisms (rs1893219 and rs1893220) of MC2R gene and intracerebral hemorrhage in Korean population.

The hypothalamic-pituitary-adrenal (HPA) axis has an important role in the pathogenesis of stroke. We investigated whether single nucleotide polymorphisms (SNPs) of melanocortin 2 receptor (MC2R), also known as adrenocorticotropic hormone (ACTH) receptor, were associated with the development of intracerebral hemorrhage (ICH) in Korean population. Two promoter SNPs [rs1893219 (-853A/G) and rs1893220 (-759G/T)] were genotyped in 145 ICH patients and 331 control subjects using direct sequencing. Multiple logistic regression models were used to determine odds ratios, 95% confidence intervals, and p-values. Two SNPs were associated with the development of ICH (rs1893219, p=0.003 in log-additive model, p=0.023 in dominant model, p=0.002 in recessive model; rs1893220, p=0.005 in log-additive model, p=0.021 in dominant model, p=0.003 in recessive model). The frequencies of the G allele of rs1893219 and the T allele of rs1893220 were decreased in ICH group compared to control group (p=0.003 and p=0.004, respectively). The frequencies of the AG and GT haplotypes comprised of rs1893219 and rs1893220 were also significantly different between the ICH and control groups (p=0.0026 and p=0.0034, respectively). These data suggest that the MC2R gene may contribute to the development of ICH.