摘要
目的:研究室间隔缺损(室缺)人群中内皮素-1基因Lys198Asn多态性与其发生肺动脉高压的相关性,寻找新的室缺肺动脉高压形成的危险因素。方法:采用以医院为基础的病例-对照研究方法,以PCR-RFLP技术分析140例室缺肺动脉高压病例和140例非肺动脉高压室缺对照内皮素-1基因Lys198Asn多态性,比较不同基因型与肺动脉高压形成危险因素关系。结果:①肺动脉高压组Lys198Asn GT和TT基因型频率明显高于非肺动脉高压组(43.6%vs 33.6%,10.7%vs 3.6%),差异有显著意义(χ2=5.23,校正OR=1.78,P<0.05;χ2=7.70,校正OR=3.34,P<0.01);②肺动脉高压组GT+TT基因型频率明显高于非肺动脉高压组(54.3%vs 37.2%),差异有显著意义(χ2=8.29,校正OR=1.94,P<0.01);③肺动脉高压组T等位基因频率明显高于非肺动脉高压组(32.5%vs 20.4%),差异有显著意义(χ2=10.62,P<0.01)。结论:内皮素-1基因Lys198Asn多态性与室缺肺动脉高压形成相关,可能是其形成的危险因素之一。
Objective：To investigate the correlation between polymorphism of Lys198Asn of endothelin（ET）-1 gene exon 5 and ventricular septal defects（VSD） related pulmonary arterial hypertension（PAH）,and risk factors of PAH.Methods：Genotypes were determined by the PCR-restriction fragment length polymorphism（PCR-RFLP） method in 140 VSD related PAH cases and 140 non-PAH controls.Results：①The frequencies of GT and TT genotypes in PAH group were significantly higher than non-PAH group（43.6% vs 33.6%,adjusted OR=1.78,P 〈 0.05;10.7% vs 3.6%,adjusted OR=3.34,P 〈 0.01;respectively）;②The frequency of GT＋TT genotypes in PAH group was significantly higher than that of the controls（54.3% vs 37.2%,adjusted OR=1.94,P 〈 0.01）;③The T allele frequency in PAH group was significantly higher than that in the controls（32.5% vs 20.4%,P 〈 0.01）.Conclusion： ET-1 gene Lys198Asn polymorphism is associated with and may be a new risk factor of PAH.
出处
《南京医科大学学报（自然科学版）》
CAS
CSCD
北大核心
2011年第3期335-338,355,共5页
Journal of Nanjing Medical University(Natural Sciences)
基金
国家自然科学基金(30876324)
江苏省自然科学基金(BK2006248)
教育部博士点基金(303070534HA10)
作者简介
通讯作者，E-mail：YJChen@njmu．edu．cn
