文章摘要
朱锦富,陈亦江,曹海龙,顾海勇,许 晶.内皮素-1基因Lys198Asn多态性与室间隔缺损肺动脉高压相关性[J].南京医科大学学报,2011,(3):335~338
内皮素-1基因Lys198Asn多态性与室间隔缺损肺动脉高压相关性
Association between endothelin-1 gene Lys198Asn polymorphism and ventricular septal defects related pulmonary arterial hypertension
投稿时间:2010-07-30  
DOI:10.7655
中文关键词: 内皮素-1  Lys198Asn  室间隔缺损  肺动脉高压  多态性
英文关键词: Endothelin-1  Lys198Asn  ventricular septal defects  pulmonary arterial hypertension  polymorphism
基金项目: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)
作者单位
朱锦富 南京医科大学第一附属医院胸心外科,江苏 南京 210029 
陈亦江 南京医科大学第一附属医院胸心外科,江苏 南京 210029 
曹海龙 南京医科大学第一附属医院胸心外科,江苏 南京 210029 
顾海勇 南京医科大学第一附属医院胸心外科,江苏 南京 210029 
许 晶 南京医科大学第一附属医院胸心外科,江苏 南京 210029 
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中文摘要:
      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?
英文摘要:
      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.
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