Title:A Variant in the Endoglin Gene is Associated with the Development of Sporadic Intracranial Aneurysms
Volume: 11
Issue: 4
Author(s): Yahui Lin, Hui Yu, Weihua Song, Yinhui Zhang, Channa Zhang, Yufang Zhu, Qi Pang, Rutai Hui and Jingzhou Chen
Affiliation:
Keywords:
Endoglin, genetic variant, intracranial aneurysms, single nucleotide polymorphism, stroke, subarachnoid
hemorrhage.
Abstract: Intracranial aneurysms (IAs) are acquired lesions in the brain and can pose potential risk of rupture leading to
subarachnoid hemorrhage. Endoglin plays a pivotal role in the vascular development and disease. Variations of endoglin
gene have been shown to be risk factors for IAs in different racial population. In the present study, we investigated the
correlation between polymorphism in the endoglin gene with IAs in Chinese Han population. The association of endoglin
D366H variant (rs1800956) with sporadic IAs was tested in 313 patients with intracranial aneurysms, and 450 controls.
The difference in allelic frequency between patients and control group was evaluated with the chi-square test. The
frequency of the GG+CG genotype of rs1800956 was significantly higher in patients with IAs than in controls [22.0% vs
15.3%, P = .018; crude OR(odds ratio), 1.56; 95% CI(confidence interval), 1.08-2.26]. Multivariate analysis showed that
rs1800956G conferred a risk to IAs [adjusted OR, 1.56 [95% CI, 1.08-2.26]; P=.019], independent of conventional
factors, including age, sex, blood pressure, smoking, and alcohol consumption. The variant rs1800956 of endoglin might
raise the risk of sporadic IAs among individuals of Chinese Han ethnicity.
