ADH4和 ADH7外显子多态性与酒精性肝病的危险饮酒行为遗传关联分析  

Analysis of genetic association between exon polymorphisms of ADH4 and ADH7 and risky drinking behavior of alcoholic liver disease

作　　者：闫丽君 廖显秀 陈冲 黄小倩 蓝婧[4] 蓝晨[1] 陈丽芬[4] 韦帅 张群先[1] 姚朝光[4] 陈高 顾大勇 Yan Lijun;Liao Xianxiu;Chen Chong;Huang Xiaoqian;Lan Jing;Lan Chen;Chen Lifen;Wei Shuai;Zhang Qunxian;Yao Chaoguang;Chen Gao;Gu Dayong(Department of Laboratory Medicine,The People′s Hospital of Hechi,Hechi547000,China;Shenzhen Key Laboratory of Medical Laboratory and Molecular Diagnosis,Shenzhen518035,China;Department of Gastroenterology,The Second People′s Hospital of Shenzhen,Shenzhen518035,China;Department of Gastroenterology,The People′s Hospital of Hechi,Hechi547000,China;Department of Laboratory Medicine,The Second People′s Hospital of Shenzhen,Shenzhen518035,China)

机构地区：[1]河池市人民医院检验科,河池547000 [2]深圳市医学检验分子诊断重点实验室,深圳518035 [3]深圳市第二人民医院消化内科,深圳518035 [4]河池市人民医院消化内科,河池547000 [5]深圳市第二人民医院检验科,深圳518035

出　　处：《中华预防医学杂志》2024年第12期2025-2032,共8页Chinese Journal of Preventive Medicine

基　　金：深圳市科技计划资助(ZDSYS20210623092001003);深圳市医学检验分子诊断重点实验室开放课题(ZDSYSKFKT02);右江民族医学院校内课题(yy2021sk117)。

摘　　要：探讨ADH4外显子rs1126671和ADH7外显子rs971074多态性与危险饮酒行为及酒精性肝病的关联。采用回顾性病例对照研究方法,分析2021年11月至2022年6月河池市人民医院消化内科确诊的酒精性肝病患者,其中52例阳性危险饮酒行为酒精性肝病病例组,同性别同年龄段的103例阳性危险饮酒行为非酒精性肝病和105例无危险饮酒行为的健康体检者分别作为对照组。采用免疫比浊法检测血清总蛋白和白蛋白,差值法计算球蛋白;采用亚硝酸盐氧化法检测总胆红素和直接胆红素,差值法计算间接胆红素;采用底物法检测碱性磷酸酶、天门冬氨酸氨基转移酶、丙氨酸氨基转移酶和γ-谷氨酰基转移酶。结果显示,52例酒精性肝病患者全部为男性,采用三组间非参数独立样本Kruskal-Wallis检验分析酒精性肝病组、阳性饮酒行为组、健康对照组12项肝功能基线显示三组间M(Q 1,Q 3)分别为:血清总蛋白(g/L)65.0(60.1,71.4)、73.4(70.3,76.3)、72.4(69.2,76.2)(H=37.130,P<0.001);白蛋白(g/L)36.1(28.6,42.9)、47.2(45.0,49.2)、47.5(45.9,49.5)(H=14.503,P=0.001);直接胆红素(μmol/L)10.1(35.6,34.0.1)、3.8(3.1,5.45)、4.2(2.9,6.0)(H=26.608,P<0.001);碱性磷酸酶(U/L)106.0(71.0,164.0)、68.0(57.5,82.0)、70.0(59.0,87.0)(H=27.904,P<0.001);白蛋白比球蛋白比值1.34(0.91,1.88)、1.82(1.65,2.00)、1.89(1.68,2.07)(H=11.047,P=0.004);直胆胆红素比间胆胆红素比值0.91(0.69,1.91)、0.41(0.35,0.54)、0.42(0.34,0.54)(H=19.478,P<0.001);血清总胆红素(μmol/L)23.9(13.7,51.0)、13.8(10.2,17.9)、13.0(10.1,17.4)(H=18.375,P<0.001);天门冬氨酸氨基转移酶(U/L)74.0(39.0,122.0)、22.0(19.0,28.0)、23.0(19.0,30.0)(H=76.365,P<0.001);丙氨酸氨基转移酶(U/L)37.0(25.0,55.0)、23.0(17.0,30.0)、24.0(17.0,33.8)(H=57.041,P<0.001);γ-谷氨酰基转移酶(U/L)135.0(45.0,364.0)、33.0(23.5,49.5)、32.0(19.0,49.0)(H=82.558,P<0.001)等10项主要肝功能指标差异有统计学意义;而在危险饮酒和健康组的两两比�To analyze the correlation of ADH4 exon rs1126671 and ADH7 exon rs971074 polymorphisms with risky drinking behaviors and alcoholic liver disease.The patients with alcoholic liver disease diagnosed in the Gastroenterology Department of the People′s Hospital of Hechi from November 2021 to June 2022,including 52 cases of alcoholic liver disease with positive risky drinking behaviors,103 cases of non-alcoholic liver disease with positive risky drinking behaviors of the same gender and age,and 105 healthy subjects with no risky drinking behaviors as control groups were retrospectively analyzed.The serum total protein and albumin are detected by immunoturbidimetry and globulin is calculated by the difference method;the serum total bilirubin and direct bilirubin are detected by the nitrite oxidation method and indirect bilirubin is calculated by the difference method;alkaline phosphatase,aspartate aminotransferase,alanine aminotransferase andγ-glutamyl transferase are detected by the substrate method.The results revealed that all 52 patients with alcoholic liver disease were male.The non-parametric independent sample Kruskal-Wallis test was adopted to analyze the baseline of twelve liver functions among the alcoholic liver disease group,the risky drinking behavior group and the healthy control group,and it was found there was statistical significance in ten major liver function indicators in the difference comparison among the three groups like serum total protein(g/L)65.0(60.1,71.4),73.4(70.3,76.3),72.4(69.2,76.2)(H=37.130,P<0.001);albumin(g/L)36.1(28.6,42.9),47.2(45.0,49.2),47.5(45.9,49.5)(H=14.503,P=0.001);direct bilirubin(μmol/L)10.1(35.6,34.0.1),3.8(3.1,5.45),4.2(2.9,6.0)(H=26.608,P<0.001);alkaline phosphatase(U/L)106.0(71.0,164.0),68.0(57.5,82.0),70.0(59.0,87.0)(H=27.904,P<0.001);albumin to globulin 1.34(0.91,1.88),1.82(1.65,2.00),1.89(1.68,2.07)(H=11.047,P=0.004);direct bilirubin to indirect bilirubin 0.91(0.69,1.91),0.41(0.35,0.54),0.42(0.34,0.54)(H=19.478,P<0.001);serum total bilirubin(μmol/L)23.9(13.7,51.

关 键 词：酒精性肝病 危险饮酒行为 ADH4 ADH7 rs1229984保护区 

分 类 号：R575[医药卫生—消化系统]