HIF-1α基因多态性与肝肺综合征的相关性研究  

Correlation analysis between hypoxia-inducible factor-1α gene polymorphism and hepatopulmonary syndrome

作　　者：王燕颖[1] 王文多[1] 张艳霞[1] 赵欣[1] 杨东亮[2] 

机构地区：[1]哈尔滨黑龙江省医院消化内科,500362 [2]武汉华中科技大学同济医学院附属同济医院感染内科,430030

出　　处：《解放军医学杂志》2010年第11期1377-1380,共4页Medical Journal of Chinese People's Liberation Army

基　　金：黑龙江省科技攻关项目(GB07C32506)

摘　　要：目的探讨缺氧诱导因子-1α(HIF-1α)基因多态性与肝硬化肝肺综合征(HPS)遗传易感的相关性。方法选取2006年3月-2009年9月黑龙江省医院消化内科住院的245例肝硬化患者,根据有无发生HPS将其分为HPS组(n=63)和非HPS组(n=182),另选取35名健康体检者作为对照组。应用RFLP技术检测HIF-1α基因C1772T多态性并行遗传易感相关性分析。结果非HPS组存在HIF-1α的CC、CT和TT三种基因型,分别为1例(0.6%)、89例(48.9%)、92例(50.5%);对照组存在CC、CT两种基因型,分别为16例(45.7%)、19例(54.3%);HPS组存在CC、CT和TT三种基因型,分别为2例(3.2%)、37例(58.7%)、24例(38.1%)。HPS组C等位基因频率和CC+CT基因型频率分别为32.5%、61.9%,与对照组(22.9%、45.7%)及非HPS组(25.0%、49.5%)比较差异有统计学意义(P<0.05),而对照组与非HPS组之间无统计学差异(P>0.05)。HPS组T等位基因频率(67.5%)与非HPS组(75.0%)及对照组(77.1%)比较,差异均有统计学意义(P<0.05)。从临床特征来看,HPS组患者肝功能Child-Pugh分级均为B、C级,门静脉主干(PV)内径、脾静脉(SV)内径、脾脏厚度(ST)、腹水程度、动脉血氧分压(PaO2)、血清一氧化氮(NO)浓度均明显高于非HPS组(P<0.05)。结论 HIF-1α的C1772T多态性与肝硬化患者的HPS遗传易感性相关,HIF-1α基因C1772T的变异与HPS风险下降有关。Objective To investigate the correlation between hypoxia-inducible factor-1α （HIF-1α） gene polymorphism and the genetic susceptibility of hepatopulmonary syndrome （HPS）. Methods Two hundred and forty-five patients with hepatic cirrhosis hospitalized in our institution from May 2006 to Sep. 2009 were divided into group HPS （n= 63） and group non-HPS （n= 182） according to whether HPS occurred or not. Other 35 healthy persons were enrolled as normal controls. The gene polymorphism of HIF1α C1772T was determined by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）. The correlation between their expressions and the genetic susceptibility of HPS was analyzed. Results The prevalence rate of genotype CC, CT and TT in non HPS group and HPS group were 1 （0. 6%）, 89 （48. 9%）, 92 （50. 5%）, and 2 （3.2%）, 37 （58. 7%）, 24 （38. 1%）, respectively. In normal control group, only two genotype CC and CT were found, and their prevalence rate were 16 （45. 7%） and 19 （54. 3%）, respectively. The frequency of C allele and genotype CC＋CT was 32. 5% and 61.9% in HPS group, significantly differentiated from that in normal control group （22. 9%, 45. 7%） and non HPS group （25.0%, 49. 5%, P〈0. 05）, and no statistical difference was found in these two groups （P〉0. 05）. The frequency of T allele in group HPS （67. 5%） showed significant difference compared with that in non-HPS group （75. 0%） or normal control group （75.0%, P〈0.05）. As far as clinical features were concerned, the Child-Pugh ranking of liver function in HPS group was B and C. PV, SV, ST, ascites, concentration of PaO2 and NO were all higher in HPS group than in non-HPS group （P〈0. 05）. Conclusions C/T gene polymorphism of HIF-1α is correlated with genetic susceptibility of HPS. The mutation of HIF1 gene SNP/C1772T is associated with the decrease of risk of HPS.

关 键 词：缺氧诱导因子-1 Α亚基 多态性 单核苷酸 肝肺综合征 疾病遗传易感性 

分 类 号：R575.2[医药卫生—消化系统]