A Variant in the Endoglin Gene is Associated with the Development of Sporadic Intracranial Aneurysms
A Variant in the Endoglin Gene is Associated with the Development of Sporadic Intracranial Aneurysms
复制标题
内皮糖蛋白基因的变异与散发性颅内动脉瘤的发展有关
DOI：
10.2174/1567202611666140912114450
复制
发表时间：
2014-01-01
影响因子：
2.1
通讯作者：
Chen, Jingzhou
中科院分区：
文献类型：
--
作者：
Lin, Yahui;Yu, Hui;Chen, Jingzhou
颅内动脉瘤（IA）是大脑中的获得性病变，可造成破裂导致蛛网膜下腔出血的潜在风险。内皮糖蛋白在血管发育和疾病中起着关键作用。endoglin基因的变异已被证明是不同种族人群中IA的危险因素。在本研究中，我们调查了endoglin基因多态性与IA在中国汉族人群中的关系。在313例颅内动脉瘤患者和450例对照组中检测了endoglin D366 H变体（rs 1800956）与散发性IA的相关性。采用卡方检验评估患者与对照组之间等位基因频率的差异。颅内动脉瘤患者rs 1800956 GG+CG基因型频率显著高于对照组[22.0% vs 15.3%，P = 0.018;粗OR（比值比），1.56; 95%CI（置信区间），1.08-2.26]。多变量分析显示rs 1800956 G可增加颅内动脉瘤的风险[校正OR，1.56 [95%CI，1.08-2.26]; P =. 019]，独立于常规因素，包括年龄、性别、血压、吸烟和饮酒。endoglin基因rs 1800956变异可能增加中国汉族人群中散发性IA的风险。
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.