Association between COL1A2 gene polymorphisms and susceptibility to the intracerebral hemorrhage in a Chinese population

We firstly conducted a study to investigate the role of three common SNPs (rs42524 in exon 28, rs1800238 in exon 32, and rs2621215 in intron 46) in the susceptibility to intracerebral hemorrhage. A total 286 patients with proven intracerebral hemorrhage and 355 control subjects were consecutively recruited between May 2012 and October 2014. The DNA was extracted from venous blood samples using the TIANamp Blood DNA Kit (Tiangen Biotech, Beijing, China). Genotyping of COL1A2 rs42524, rs1800238, and rs2621215 was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). We found that the frequencies of the GG, GC and CC genotypes of COL1A2 rs42524 were significantly different between patients with intracerebral hemorrhage and controls (X-2 = 18.49, P < 0.001). By unconditional logistic regression analysis, the GC and CC genotypes of COL1A2 rs42524 was associated with an increased risk of intracerebral hemorrhage when compared to the GG genotype, and the adjusted ORs (95% CI) of the GC and CC genotypes were 2.15 (1.03-4.48) and 3.00 (1.51-5.98), respectively. Moreover, the GC + CC genotype of COL1A2 rs42524 was correlated with a higher risk of intracerebral hemorrhage, compared to the wide-type genotype (Adjusted OR = 1.67, 95% CI = 1.14-2.43). In addition, individuals carrying the TT genotype of COL1A2 rs1800238 had a higher risk of developing intracerebral hemorrhage when compared with the GG genotype (Adjusted OR = 2.68, 95% CI = 1.17-6.12). However, the COL1A2 rs2621215 polymorphism was not significantly associated with increased risk of intracerebral hemorrhage. We observed a significant interaction between COL1A2 rs42524 and hypertension in the risk of intracerebral hemorrhage (Correlation coefficient = 0.087; P = 0.02). In conclusion, our study suggests that COL1A2 rs42524 and 1800238 polymorphisms contribute to the development of intracerebral hemorrhage.