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

• We examined the relationship between promoter SNPs of MC2R and ICH.
• SNPs of MC2R, rs1893219 and rs1893220 were associated with the development of ICH.
• Haplotypes of rs1893219 and rs1893220 were significantly related to ICH.

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.