颅内动脉瘤COL3A1基因启动子区多态性的检测与分析  

Polymorphism analysis and gene detection in the promoter region of type Ⅲ collagen alpha1(COL3A1) gene in intracranial aneurysms

作　　者：朱玉方[1] 庞琦[2] 路明[3] 王秀华[1] 赵玉娥[1] 徐军[1] 陶荣杰[1] 

机构地区：[1]山东省肿瘤防治研究院头颈神经外科,山东济南250117 [2]山东大学附属省立医院神经外科,山东济南250021 [3]泰山医学院附属医院神经内科,山东泰安271000

出　　处：《中国微侵袭神经外科杂志》2009年第11期510-513,共4页Chinese Journal of Minimally Invasive Neurosurgery

基　　金：国家自然科学基金(编号:30973109);山东省科技厅科技攻关重点项目(编号:2004GG2202140)

摘　　要：目的检测与分析颅内动脉瘤中Ⅲ型胶原蛋白α1链(COL3A1)基因启动子区rs2138533、rs11887092、rs1040186位点的多态性。方法利用连接酶检测反应法,比较298例颅内动脉瘤与488例对照病人之间COL3A1基因启动子区各多态性位点的基因型和等位基因频率的构成。结果颅内动脉瘤组与对照组中rs2138533位点TC+CC基因型频率差异显著(χ2=11.45,P=0.001),C等位基因频率差异显著(χ2=30.93,P=0.000),采用Logistic回归纠正性别、年龄、高血压、吸烟及饮酒等因素后仍差异显著(均P<0.01);而两组rs11887092、rs1040186位点的基因型和等位基因频率差异无统计学意义。结论COL3A1基因启动子区rs2138533位点的CT多态性与颅内动脉瘤发病相关。Objective To detect the gene sites of rs2138533, rs 11887092 and rs 1040186 in the promoter region of type Ⅲcollagen alphal （COL3A 1） gene in intracranial aneurysms and analyze their polymorphisms. Methods Two hundred and ninety eight patients with intracranial aneurysms and 448 patients as control group were studied, and the genotype and allelic frequency of rs2138533, rsl 1887092 and rs1040186 polymorphisms of the COL3A 1 gene were analyzed by ligase detection reaction （LDR）. Results Significant differences were found in TC ＋ CC genotype frequency ofrs2138533 between aneurysm group and control group （χ^2 = 11.45, P = 0.001）, and also in C allelic frequency （χ^2 = 30.93, P = 0.000）. Adjustment of sex, age, hypertension, smoking and alcohol consumption by logistic regression did not change the above conclusions （P 〈 0.01）. However, no significant difference was seen in the genotype and allelic frequency of rs11887092 or rs1040186 polymorphisms between the two groups. Conclusion The rs2138533 polymorphism in the promoter region of COL3A1 gene is correlated with pathogenesis of intracranial aneurysms.

关 键 词：颅内动脉瘤 Ⅲ型胶原蛋白α1链基因 多态性 单核苷酸 

分 类 号：R743.3[医药卫生—神经病学与精神病学]