Association of single nucleotide polymorphisms of CSPG2 and HSPG2 genes with intracranial aneurysm in ethnic Han Chinese population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the association between CSPG2 and HSPG2 gene polymorphisms and intracranial aneurysm (IA) in ethnic Han Chinese population.</p><p><b>METHODS</b>A case-control study was carried out. A total of 537 IA patients and 1071 normal controls with matched age and gender were recruited. Peripheral blood samples were obtained from all subjects. Following extraction, target DNA was amplified with PCR and genotyped with a SNaPshot method. The association between 2 tag SNPs (rs251124 and rs3767137) of CSPG2 and HSPG2 genes and IA was assessed.</p><p><b>RESULTS</b>The genotype frequencies of rs251124 and rs3767137 were both in Hardy-Weinberg equilibrium. No significant difference has been found in the frequencies of rs251124 of CSPG2 between the two groups. Similarly, the frequency of rs3767137 (HSPG2) did not differ between the IA and control groups (P=0.22), albeit with an OR value of greater than 1 (OR=1.12, 95%CI=0.92-1.37). There were no significant difference in genotypic frequencies of the two SNPs between the two groups (P=0.46, 0.53).</p><p><b>CONCLUSION</b>No association has been found between polymorphisms of rs251124 and rs3767137 loci of CSPG2 and HSPG2 genes and IA in the selected population.</p>