Background: There is evidence suggesting that genetic variants in the chondroitin sulfate proteoglycan2 (CSPG2, also known as versican) gene are involved in the pathogenesis of intracranial aneurysms (IAs). Some authors have demonstrated that single nucleotide polymorphisms (SNPs) rs173686 and rs251124 in the promoter region of the CSPG2 gene are associated with IAs. We performed a case-control study to investigate whether these SNPs might affect the development of IAs in Chinese Han nationality.
Methods: The study group comprised 240 Chinese Han nationality patients with at least one intracranial aneurysm and 240 healthy Han nationality controls. Genomic DNA was isolated from blood leukocytes. The SNPs rs173686 and rs251124 were genotyped by PCR amplification and DNA sequencing. Differences in genotype and allele frequencies between patients and controls were tested by the chi-square method.
Results: Genotype and allele frequencies of the SNPs rs173686 and rs251124 were both demonstrated to be in Hardy-Weinberg equilibrium. No significant difference in genotype or allele frequencies between case and control groups was detected at either of the two SNPs.
Conclusions: The data do not support the hypothesis that the two SNPs (rs173686 and rs251124) in the promoter region of the CSPG2 gene influence the development of intracranial aneurysms in Chinese Han nationality.