Endoglin基因多态性与脑卒中的相关性

目的 探讨中国人群中Endoglin基因单核苷酸多态性和插入/缺失多态性与脑卒中之间的相关性.方法 采用多中心大规模病例-对照关联研究.(1)入选来自7个临床中心的1414例病例(其中脑梗死629例、脑出血376例、腔隙性脑梗死409例)与1376例对照,采用聚合酶链式反应和限制性片段长度多态性方法分析Endoglin基因C1096G多态性在病例组和对照组的频率分布,并分析其与脑卒中的关系;(2)采用聚合酶链式反应和聚丙烯酰氨凝胶电泳的方法分析Endoglin基因第7内含子5'TCCCCC3'插入/缺失多态性.结果 (1)Endoglin基因1096位点G等位基因在病例组和对照组的频率分别为13.5%和13.3%,两组间差异无统计学意义(x2=0.827,P=0.363).基因型频率分布差异亦无统计学意义.(2)中国人群中存在Endoglin基因第7内含子插入/缺失多态性,该多态性的频率仅为0.003.结论 中国人群中Endoglin基因1096碱基处G/G等位基因多态性和第7内含子5'TCCCCC3'的插入/缺失多态性不是脑卒中的影响因子.

Association of endoglin gene polymorphisms with cerebral stroke: a multiple center study of 1414 cases

Objective To investigate the association of 5'TCCCCC3' insertion polymorphism in intron7 and the C1096G allele gene with the risk of cerebral stroke in Chinese population.Methods Peripheral blood samples were collected from 1414 Chinese patients with cerebral hemorrhage (n = 376),infarction (n =629) or lacunar infarction (n = 409) selected from 7 clinical centers in China and 1376 controls Single nucleotide polymorphism (SNP) at the position 1096 was genotyped with polymerase chain reaction (PCR) and restriction fragment length polymorphism assay.PCR and polyacrylamide gel electrophoresis were used to examine the insertion/deletion polymorphism in 187 cases of cerebral stroke and 190 controls.Results The frequency of allele G at nucleotide 1096 of the cerebral stroke patients was 13.5 %,not significantly different from that of the controls ( 13.3 %,x2 = 0.827,P = 0.352).There were not significant differences in the distribution of GG and GC genotypes among the patients with cerebral hemorrhage,infarction,and lacunar infarction respectively and the controls.In the 187 cases and 190 controls,only 2 cases of heterozygote of the insertion sequence were found with a frequency of 0.003. Conclusion The SNP at the position 1096 of the Endoglin gene and insertion/deletion polymorphism in 5' TCCCCC3' of intron 7 are not the risk factors of cerebral stroke in Chinese population.