乙醛脱氢酶2基因Glu504Lys多态性在汉族2型糖尿病人群中的分布特点  

Distribution characteristics of Glu504Lys polymorphism of acetaldehyde dehydrogenase 2 gene in Type 2 Diabetes Mellitus in Han Nationality

作　　者：安宏亮[1] 江海燕[2] 张劲丰[1] 李炜煊[2] 苏荣[1] 何娴[1] 吕微风 AN Hongliang;JIANG Haiyan;ZHANG Jinfeng;LI Weixuan;SU Rong;HE Xian;LV Weifeng(Department of Clinical Laboratory,Foshan Hospital of Traditional Chinese Medicine,Foshan,Guangdong,China,528000;Department of Clinical Laboratory,The first people's hospital of Foshan,Foshan,Guangdong,China 528000)

机构地区：[1]佛山市中医院检验医学中心,广东佛山528000 [2]佛山市第一人民医院检验科,广东佛山528000

出　　处：《分子诊断与治疗杂志》2020年第4期423-427,432,共6页Journal of Molecular Diagnostics and Therapy

摘　　要：目的分析2型糖尿病(T2DM)人群中乙醛脱氢酶2(ALDH2)基因Glu504Lys多态性的分布特点,探讨ALDH2基因504位点基因突变与空腹血糖、HbA1C水平及胰岛素抵抗的关系。方法分析2016年4月至2017年12月于本院就诊的629例汉族受试者相关资料,分为体检对照组(402例)和2型糖尿病组(227例)。分析两组人群ALDH2各基因型的分布规律,比较两组人群ALDH2各基因型的HbA1C、空腹血糖及胰岛素抵抗的分布水平。结果2型糖尿病组GL、LL突变基因型的比例分别是37.9%和7.0%,显著高于体检对照组的30.8%和3.2%(P<0.05)。629例汉族受试者,GG型390例,GL型210例,LL型29例。随着ALDH2基因突变数量的增加,患2型糖尿病的风险增加,具体数据为:无突变GG型32.1%(125/390),杂合突变GL型41.0%(86/210),纯合突变LL型55.2%(16/29)。ALDH2基因突变是发生2型糖尿病的危险因素,OR值=1.578,95%置信区间为1.131~2.202。ALDH2基因突变对HbA1C水平的分布无影响(P>0.05)。两组人群男女性别间ALDH2各基因型的分布均无差异(P>0.05)。2型糖尿病组ALDH2各基因型的胰岛素抵抗指数(HOMA1⁃IR)、定量胰岛素敏感性检测指数(QUICKI)、空腹胰岛素敏感指数(ISI)分布水平均无显著差异(P>0.05)。结论汉族2型糖尿病人群ALDH2基因504位点发生突变的比例显著高于正常人群,Glu504Lys的突变是2型糖尿病发生的危险因素,但与空腹血糖、HbA1C以及胰岛素抵抗的水平无明显相关。Objective To analyze the distribution characteristics of the Glu504Lys polymorphism of the aldehyde dehydrogenase 2(ALDH2)gene in people with type 2 diabetes(T2DM)and to explore the relationship between ALDH2 gene mutation at position 504 and fasting blood glucose,HbA1C level and insulin resistance.Methods A retrospective study was conducted in 629 cases of physical examination and hospitalization in Foshan Traditional Chinese Medicine Hospital from April to December in 2016.There were 402 healthy controls and 227 patients with type 2 diabetes mellitus.The distribution of ALDH2 genotypes in the two groups was analyzed,and the distribution levels of HbA1C,fasting blood glucose and insulin resistance in ALDH2 genotypes of the two groups were compared.Results The proportions of GL and LL mutation genotypes in type 2 diabetes group were 37.9%and 7.0%,respectively,which were significantly higher than those in the physical examination control group(30.8%and 3.2%(P<0.05).Among 629 Han subjects,390 cases are GG,210 GL and 29 LL.With the increase in the number of ALDH2 gene mutations,the risk of type 2 diabetes increases.The specific data are:32.1%(125/390)without mutation GG type,41.0%(86/210)with heterozygous mutation GL type and homozygous mutation LL Type 55.2%(16/29).ALDH2 gene mutation is a risk factor for type 2 diabetes,OR value=1.578,95%confidence interval is 1.131~2.202.ALDH2 gene mutation has no effect on the distribution of HbA1C level(P>0.05).There was no difference in the distribution of ALDH2 genotypes between men and women in the 2 groups(P>0.05).There was no significant difference in the distribution of insulin resistance index(HOMA1⁃IR),quantitative insulin sensitivity test index(QUICKI)and fasting insulin sensitivity index(ISI)of each type of ALDH2 genotype in type 2 diabetes group(P>0.05).Conclusion The proportion of ALDH2 gene mutation at position 504 in Han type 2 diabetes population is significantly higher than that in normal population.Glu504Lys mutation is a risk factor for type 2 diabetes,but i

关 键 词：乙醛脱氢酶2 2型糖尿病 基因型 多态现象 遗传 

分 类 号：R587.1[医药卫生—内分泌]