Genetic Screening for Mutations in the Chip Gene in IntracranialAneurysm Patients of Chinese Han Nationality

Abstract

We performed a case-control study to investigate whether SNPs of CHIP might affect the development of IAin Chinese Han nationality. We believe we are the first to have screened IA patients for mutations in the CHIPgene to determine the association with these variants. The study group comprised 224 Chinese Han nationalitypatients with at least one intracranial aneurysm and 238 unrelated healthy Han nationality controls. GenomicDNA was isolated from blood leukocytes. The entire coding regions of CHIP were genotyped by PCR amplificationand DNA sequencing. Differences in genotype and allele frequencies between patients and controls were testedby the chi-square method. Genotype and allele frequencies of the SNP rs116166850 was demonstrated to bein Hardy-Weinberg equilibrium. No significant difference in genotype or allele frequencies between case andcontrol groups was detected at the SNP. Our data do not support the hypothesis of a major role for the CHIPgene in IA development in the Chinese Han population.