Association of EDNRA and JDP2 genes with sporadic intracranial aneurysm in Chinese Han Population

Abstract

Objective To investigate the associations of single nucleotide polymorphism (SNP) locus of endothelin receptor type A (EDNRA) and Jun dimerization protein 2 (JDP2) genes with sporadic intractranial aneurysm (ⅠA) in Chinese Han population.Methods Genomic DNA was collected fiom 288 patients with ⅠA and 576 healthy controls,admitted to our hospital from 2008 to 2012.The SNPs in near EDNRA gene (rs6842241 and rs6841581) and JDP2 gene (rs741846 and rs175646) were analyzed by using the SnapShot method; and their relations with ⅠA were analyzed.Results All the genotype frequencies of these SNPs were in Hardy-Weinberg equilibrium (HWE) (P＞0.05).There were significant differences in genotypes and allele frequency distribution of near EDNRA gene between ⅠA patients and controls (P=0.000 for rs6842241 and rs6841581),while no significant differences were found in the distributions of rs741846 and rs175646 in JDP2 gene between ⅠA patients and controls (P=0.156 and 0.223).Haploview haplotyping showed that rs6842241 and rs6841581 located in a linkage disequilibrium,whose haplotypes (CG,AA and AG) were significantly different between the two groups (P=0.000,P=0.000 and P=0.009).Conclusion The rs6842241 and rs6841581 loci near EDNRA gene contribute to an increased risk ofⅠA among the Han Chinese population. Key words: intracranial aneurysm; Endothelin receptor type A; Jun dimerization protein 2; Single nucleotide polymorphism