缺氧诱导因子1-α基因C1744T多态与先天性心脏病的相关性研究  

Study on the association of the polymorphism of C1744T in the hypoxia-inducible factor 1-alpha gene with congenital heart disease

作　　者：倪世宏[1] 刘兴元[2] 魏东[3] 杨奕清[4] 

机构地区：[1]复旦大学附属华山医院宝山分院儿科,上海200431 [2]同济大学医学院附属同济医院儿科,上海200065 [3]上海交通大学附属儿童医院儿科,上海200040 [4]上海交通大学附属胸科医院心血管研究室,上海200030

出　　处：《国际心血管病杂志》2016年第1期46-49,共4页International Journal of Cardiovascular Disease

基　　金：上海市宝山区自然科学基金(12-E-25)

摘　　要：目的:研究缺氧诱导因子1-α(hypoxia-inducible factor 1-alpha,HIF1α)基因C1744T多态与先天性心脏病(congenital heart disease,CHD)的关系。方法:入选CHD患儿110例(病例组)及无CHD儿童200名(对照组),收集其临床资料和血标本,使用基因组DNA纯化试剂盒抽提基因组DNA。通过聚合酶链反应扩增HIF1α基因的第12个外显子,应用DNA测序试剂盒在DNA测序仪上对扩增片段进行测序。统计分析HIF1α基因C1744T多态在病例组和对照组间的频率分布。结果:HIF1α基因编码核苷酸序列第1744位的等位基因C、T及其构成的3种基因型CC、CT、TT在CHD在病例组和对照组间的频率分布存在显著性差异,病例组等位基因T及基因型CT和TT的频率较低(等位基因频率经Fisher精确检验比较,P=0.0179;基因型频率经Fisher精确检验比较,P=0.0139)。结论:HIF1α基因C1744T多态与CHD的易感性有关,等位基因T降低CHD的发生率。Objective： To study the association of the polymorphism C1744T in the hypoxiainducible factor 1-alpha （HIF1α） gene with congenital heart disease （CHD）. Methods： A total of 110 children with CHD （case group） and 200 children without CHD （control group） were recruited. The clinical data and blood samples from all the study participants were collected. The genomic DNA was extracted with DNA purification kit. The twelfth coding exon of the HIF1a gene was amplified by polymerase chain reaction. The amplicons were sequenced with DNA sequencing kit under a DNA Analyzer. The frequencydistributions of the polymorphism C1744T in HIF1α were statistically analyzed between the case and control groups. Results： Between the case and control groups, there was significant difference in the frequency distributions of the alleles C and T at coding nucleotide 1 744 of HIF1α, as well as the genotypes of CC, CT and TT, with lower frequencies of allele T and genotypes CT and TT observed in the case group （for the comparison of allelic frequency by Fisher＇s exact test, P=0. 0179; for the comparison of genotypie frequency by Fisher＇ s exact test, P = 0. 0139）. Conclusion： The polymorphism of C1744T in HIF1α is associated with the susceptibility to CHD, with allele T contributing to a decreased prevalence of CHD.

关 键 词：先天性心脏病 遗传学 基因多态性 缺氧诱导因子 

分 类 号：R541.1[医药卫生—心血管疾病]