Relationship between the polymorphism of a disintegrin and metalloproteinase with thrombospondin motifs 12 gene and acute cerebral infarction

Abstract

Objective To investigate the relationship between gene polymorphism of a disintegrin and metalloproteinase with thrombospondin motifs-12 (ADAMTS-12) and acute cerebral infarction of large artery atherosclerosis (LAA) in Han Chinese population in southern Zhejiang region. Methods Three hundred and ninety-six cerebral infarct patients with first onset and 318 controls were included in the study. The polymorphisms of ADAMTS-12 gene were detected by DNA sequencing. Results Among rs25754, rs185365 and rs457353, there were complete linkage disequilibrium (D'=1.0, r2=1.0). The T allele of rs25754 was higher in case group than that in control group (82.2% vs 77.5%, χ2=4.852, P=0.028). The number of (TT+ TC) genotype in case group is more than control group (χ2=5.000, P=0.025). What's more, the T allele of rs185365 was higher in case group than that in control group (82.2% vs 77.5%, χ2=4.852, P=0.028). The number of (TT+ TG) genotype in case group is more than control group(χ2=5.000, P=0.025). The A allele of rs457353 was higher in case group than that in control group (82.2% vs 77.5%, χ2=4.852, P=0.028). The number of (AA+ AC) genotype in case group is more than control group(χ2=5.000, P=0.025). No significant difference was found in the allele frequencies and genotypes of rs6865176 and rs79110681 between case and control groups. In the analysis of haplotype, the OR value of haplotype (T-T-A) was 1.339 (χ2=4.852, P=0.028), while the OR value of haplotye (C-G-C) was 0.747 (χ2=4.852, P=0.028). Conclusions Acute cerebral infarction with LAA is associated with rs25754, rs185365 and rs457353 gene polymorphisms, while not associated with rs6865176 and rs79110681 gene polymorphisms in Han Chinese population in southern zhejiang region. Haplotype (T-T-A) could be applied as a candidate biomarker for screening patients with high risk of cerebral infarction. Key words: Brain infarction; Atherosclerosis; ADAM proteins; Polymorphism, genetic; Haplotypes