Abstract: Objective To identify the relationship between Rho guanine nucleotide exchange factor 7 (ARHGEF7) genetic variants and the formation and rupture risk of intracranial aneurysms. Methods Ten variants of the ARHGEF7 were detected in a case-control study which included 121 patients with intracranial aneurysms (including 41 unruptured and 80 ruptured patients) and 155 healthy controls. The relationship between variants and occurrence and rupture risk of intracranial aneurysms was examined by multivariate logistic regression model. Results After adjustment for age, sex, and traditional cardiovascular risk factors, the rs4145274GA genotype was associated with a decreased rupture risk of intracranial aneurysms as compared with rs4145274GG genotype, and odds ratio was 0.24[95% confidence interval (CI):0.09~0.69, P＜0.05]. The rs1555751CT genotype was also associated with a decreased rupture risk of intracranial aneurysms as compared with rs1555751CC genotype, and odds ratio was 0.17(95% CI: 0.05~0.63, P＜0.05). The combined effect rs4145274 and rs1555751 suggested that the patients with an increased genetic risk score had a lower rupture risk of intracranial aneurysms, and the odds ratio was 0.14(95% CI: 0.04~0.55, P＜0.05). Conclusions The study indicates that ARHGEF7 genetic variants potentially serve as potential genetic markers for the risk evaluation of ruptured intracranial aneurysms.

Key words: Rho guanine nucleotide exchange factor 7 (ARHGEF7), genetic variants, intracranial aneurysm, disease risk