桂西地区人群MTHFR基因多态性分布特征及其与高同型半胱氨酸血症的相关性  

Distribution characteristics of polymorphism of MTHFR gene in western Guangxi population and their association with hyperhomocysteinemia

作　　者：杨丽娜 梁林慧[1] 黄艳云 韦必晓[1] 黄荣透 余飞[2] YANG Lina;LIANG Linhui;HUANG Yanyun;WEI Bixiao;HUANG Rongtou;YU FEI(Department of Clinical Laboratory,People′s Hospital of Baise,Baise,Guangxi 533000,China;Department of Reproduction Medicine Center,People′s Hospital of Baise,Baise,Guangxi 533000,China)

机构地区：[1]百色市人民医院检验科,广西百色533000 [2]百色市人民医院生殖医学中心,广西百色533000

出　　处：《现代医药卫生》2023年第12期1993-1999,2006,共8页Journal of Modern Medicine & Health

基　　金：百色市科学研究与技术开发计划课题(百科20184417)。

摘　　要：目的 探讨桂西地区人群亚甲基四氢叶酸还原酶(MTHFR)基因677C/T多态性分布特点,分析桂西地区和其他地区677C/T多态性分布差异,并进一步探讨677C/T多态性与高同型半胱氨酸(HHcy)和血清同型半胱氨酸(Hcy)水平是否存在关联。方法 选取2020年1月至2022年1月在百色市人民医院保健科进行体检并行MTHFR基因检测的2 339人作为研究对象。采用聚合酶链反应(PCR)-荧光探针法检测677C/T多态性,循环酶法检测血清Hcy。根据性别、地区特征比较677C/T多态性分布差异。另外,按照Hcy>15μmol/L为HHcy,将研究对象分为HHcy组和对照组,分析MTHFR 677C/T多态性与HHcy和血清Hcy水平的相关性。结果 桂西地区2 339名体检人群中,MTHFR基因677C/T位点CC、CT和TT基因型的频率分别为59.9%、34.2%和5.9%,C、T等位基因频率分别为77.0%和23.0%。不同性别间基因型频率和等位基因频率分布比较,差异无统计学意义(P>0.05)。桂西地区人群677C/T多态性分布与茂名地区人群比较,差异无统计学意义(P>0.05),与国内惠州、泉州、武汉、甘肃、北京及山西地区人群和国外欧洲国家、日本、非洲国家、墨西哥及印第安人群比较,差异有统计学意义(P<0.05)。遗传易感性分析结果显示,携带CT、TT基因型个体患HHcy血症的风险分别是携带CC基因型个体的1.60倍[比值比(OR)=1.60,95%可信区间(95%CI)1.24~2.08,P<0.001]和5.21倍(OR=5.21,95%CI 3.24~8.40,P<0.001),携带T等位基因个体患HHcy的风险是携带C等位基因个体的1.82倍(OR=1.82,95%CI 1.51~2.19,P<0.001)。HHcy组中,TT基因型个体的血清Hcy水平显著高于CC和CT基因型个体,差异有统计学意义(P<0.001);但在对照组中,各基因型血清Hcy水平比较,差异无统计学意义(P>0.05)。结论 桂西地区MTHFR 677C/T多态性分布不受性别的影响,但具有地域特异性,T等位基因可能是桂西地区人群患HHcy血症的独立风险遗传因子,纯合突变TT基因型与血清Hcy水�Objective To investigate the distribution characteristics of 677C/T polymorphism of methylene tetrahydrofolate reductase(MTHFR)gene in western Guangxi population and to analyze the distribution differences of 677C/T polymorphisms in Guangxi and other regions,and further to explore whether the 677C/T polymorphism is associated with hyperhomocysteinemia(HHcy)and serum homocysteine(Hcy)level.Methods A total of 2339 people who underwent physical examination and tested for MTHFR gene at the Health Department of Baise People′s Hospital from January 2020 to January 2022 were selected as study subjects.The polymorphism of 677C/T was detected by the PCR-fluorescence probe method and the serum Hcy was detected by the circulating enzyme method.Differences in the distribution of 677C/T polymorphism were compared according to gender and regional characteristics.In addition,the study subjects were divided into the HHcy group and the control group according to the serum Hcy>15μmol/L defined as HHcy,and then the correlations between MTHFR 677C/T gene polymorphism and HHcy and serum Hcy level were analyzed.Results Among the 2339 physical examination population in western Guangxi,the frequencies of CC,CT,and TT genotype of MTHFR 677C/T gene were 59.9%,34.2%,and 5.9%,respectively,and the C and T allele frequencies were 77.0%and 23.0%,respectively.There were no statistically significant differences in genotype frequency and allele frequency between male and female(P>0.05).The distribution of 677C/T gene polymorphisms in western Guangxi was not significantly different compared with the population in Maoming area(P>0.05),but there were statistical differences compared with the domestic populations in Huizhou,Quanzhou,Wuhan,Gansu,Beijing and Shanxi and foreign populations in Europe,Japan,Africa,Mexico and Indian(P<0.05).The results of the genetic susceptibility analysis showed that individuals carrying CT genotype and TT genotype had 1.60 times(OR=1.60,95%CI 1.24-2.08,P<0.001)and 5.21 times(OR=5.21,95%CI 3.24-8.40,P<0.001)higher ris

关 键 词：亚甲基四氢叶酸还原酶 基因多态性 高同型半胱氨酸血症 

分 类 号：R446.1[医药卫生—诊断学] R743.33[医药卫生—临床医学]