MTHFR及MTRR基因多态性分布及与血清同型半胱氨酸水平关系的研究  

Study on distribution of MTHFR and MTRR gene polymorphisms and the correlation with serum homocysteine levels

作　　者：陈冬梅 吴鹏[2] 王榕 伍阳 王能勇[1] CHEN Dongmei;WU Peng;WANG Rong;WU Yang;WANG Nengyong(Guangyuan Central Hospital,Guangyuan,Sichuan 628000,China)

机构地区：[1]广元市中心医院检验科,四川广元628000 [2]广元市中心医院肿瘤科,四川广元628000

出　　处：《社区医学杂志》2024年第8期273-278,共6页Journal Of Community Medicine

摘　　要：目的分析亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C位点,甲硫氨酸合酶还原酶(MTRR)A66G位点基因多态性在广元地区育龄女性中的分布特征,同时分析不同基因型对血清同型半胱氨酸水平的影响,为广元地区的优生优育提供临床指导。方法收集2020-01-03-2022-02-09广元市中心医院就诊并进行MTHFR、MTRR基因检测的汉族育龄女性样本共4438名,根据知情同意原则,采集患者静脉全血,运用连接测序法检测患者MTHFR C677T、A1298C、MTRR A66G位点,采用酶循环法检测血清同型半胱氨酸(Hcy)水平。根据基因多态性进行分组。采用Haplo View4.2软件进行基因多态性的Hardyweinberg平衡分析,采用SHEsis在线软件(http://analysis.bio-x.cn/SHEsis-Main.htm)进行MTHFR C677T与MTHFR A1298C的连锁不平衡分析;采用IBM SPSS25.0统计学软件进行数据分析,计量资料采用X—±S表示,2组间比较采用t检验,多组间比较采用方差分析;计数资料采用n(%)表示,组间比较采用χ2检验。结果(1)广元地区汉族育龄女性MTHFR 677CC、CT、TT基因型频率分别为33.39%(1482/4438)、48.20%(2139/4438)、18.41%(817/4438),C、T等位基因的频率分别为57.49%、42.51%;MTHFR1298AA、AC、CC基因型频率分别为65.19%(2893/4438)、31.25%(1387/4438)、3.56%(158/4438),A、C等位基因频率分别为80.81%、19.19%;MTRR66AA、AG、GG基因型频率分别为54.62%(2424/4438)、38.64%(1715/4438)、6.74%(299/4438),A、G等位基因频率分别为73.94%、26.06%。(2)MTHFR C677T与MTHFR A1298C2位点连锁共有8种组合,频率最高为CT/AA(32.18%),频率最低为TT/AC(0.11%),没有TT/CC组合,2位点存在完全连锁不平衡,D′=0.969,r2=0.165。(3)广元地区汉族育龄女性MTHFR C677T基因型频率与新疆、河北、陕西、青海、甘肃、山东、河南、湖北、重庆、贵州、云南、福建比较,差异有统计学意义(均P<0.05),与西藏比较差异无统计学意义,P>0.05;广元地区育龄汉族女性MTHFR A1298C基因型频率与新Objective To analyze the distribution characteristics of methylenetetrahydrofolate reductase(MTHFR)at the C677T,A1298C sites and methionine synthase reductase(MTRR)at the A66G site gene polymorphism in women of childbering age in Guangyuan area,and to investigate the effects of different genotypes on serum homocysteine levels were analyzed to provide clinical guidance for prenatal and postnatal care in Guangyuan area.Methods A total of 4438 women of childbearing age in Han population who were treated in Guangyuan Central Hospital from January 3,2020 to February9,2022 and underwent the testing of genetic polymorphisms of MTHFR and MTRR were enrolled.According to the principle of informed consent,venous whole blood was obtained from patients,and the ligation sequencing was used to detect patients'genetic polymorphisms of MTHFR and MTRR,and serum homocysteine(Hcy)was measured by enzyme circulation.Groups were grouped by gene polymorphism.The The Hardy weinberg equilibrium analysis of gene polymorphisms was performed by Haplo View4.2 software,and the linkage disequilibrium analysis(LD)between MTHFR C677T and MTHFR A1298C was performed by SHEsis online software(http://analysis.bio-x.cn/SHEsisMain.htm).IBM SPSS 25.0 statistical software was used for data analysis.Measurement data were expressed as X±S,and t-tests were used for comparison between two groups,while analysis of variance was used for comparison among multiple groups.Count data were expressed as n(%),and chi-square tests were used for comparison between groups.Results(1)The genotype and allele frequencies of MTHFR C677T in Han population of Guangyuan area were 33.39%(CC,1482/4438),48.20%(CT,2139/4438),and 18.41%(TT,817/4438),57.49%(C)and 42.51%(T),respectively.The genotype and allele frequencies of MTHFR A1298C were 65.19%(AA,2893/4438),31.25%(AC,1387/4438),3.56%(CC,158/4438),80.81%(A)and 19.19%(C),respectively.The genotype and allele frequencies of MTRR A66G were 54.62%(AA,2424/4438),38.64%(AG,1715/4438),6.74%(GG,299/4438),73.94%(A)and26.06%(G),respectivel

关 键 词：基因多态性 亚甲基四氢叶酸还原酶 甲硫氨酸合酶还原酶 同型半胱氨酸 

分 类 号：R714.7[医药卫生—妇产科学]