Objective: Several studies have reported that single-nucleotide polymorphisms (SNPs) of the CDKN2A/CDKN2B  gene on chromosome 9p21.3 are associated with increased risk of intracranial aneurysm (IA). However, the association between IAs and SNPs of CDKN2A/CDKN2B  in Chinese Han people is yet to be evaluated. This study examined the association of the SNPs rs10811661 and rs4977574 with IA in the Chinese Han population.
Methods: A total of 595 IA patients and 600 sex- and age-matched controls were enrolled in the study. Peripheral blood was collected and stored at – 80°C until use. CDKN2A/CDKN2B  was identified using polymerase chain reaction–ligase detection reaction. SNP genotyping was performed for rs10811661 and rs4977574 using a MassArray system. Associations between these two SNPs and IAs was tested with χ² or Fisher’s exact tests and multivariate logistic regression.
Results: rs10811661 and rs4977574 were significantly associated with IA. The frequency of rs10811661-T in IA was higher than in controls (OR 1.26, 95% CI 1.07– 1.49; P < 0.01). There was no significant difference in frequency of haplotype between control subjects and IA patients.
Conclusion: rs10811661 and rs4977574 on 9p21.3 were strongly associated with genetic susceptibility to IA in the Chinese Han population, which emphasizes a need for further investigation.
Keywords: intracranial aneurysm, CDKN2A/CDKN2B  gene, Chinese Han population, SNP