贵州医科大学学报

2020, v.45;No.234(03) 270-276+280

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MTHFR基因rs1801133位点多态性与贵州苗族和布依族及汉族人群原发性高血压的关系
Correlation between rs1801133 Polymorphism of MTHFR Gene and Essential Hypertension in Miao,Bouyei and Han Ethnics Population in Guizhou Province

喻艳琴;谢姣姣;刁晓艳;张秀秀;王婵娟;张婷;单可人;何燕;
YU Yanqin;XIE Jiaojiao;DIAO Xiaoyan;ZHANG Xiuxiu;WANG Chanjuan;ZHANG Ting;SHAN Keren;HE Yan;Key Laboratory of Endemic and Ethnic Diseases,Ministry of Education,Guizhou Medical University;Key Laboratory of Molecular Biology,Guizhou Medical University;Department of Cardiovascular Medicine,the Affiliated Hospital of Guizhou Medical University;

摘要(Abstract):

目的:探讨贵州苗族、布依族和汉族3个民族人群原发性高血压(EH)与亚甲基四氢叶酸还原酶(MTHFR)基因rs1801133位点的关系。方法:选取保存的EH及健康体检者的DNA样本共850例,EH组有雷山苗族137例、荔波布依族131例及贵阳汉族163例,对照组有雷山苗族128例、荔波布依族131例及贵阳汉族160例;采用Taq Man探针法分别检测研究对象MTHFR基因rs1801133位点的基因分型,使用SPSS软件及SNPStats在线软件分析该位点多态性在2组被检者、2组被检者不同民族及不同性别人群的分布。结果:MTHFR基因rs1801133位点在各民族的2组被检人群中均存在C和T等位基因,以及CC、CT、TT 3种基因型; MTHFR基因rs1801133位点基因分型结果显示,布依族EH组与对照组比较、差异有统计学意义(P <0. 05),其他民族组间比较、差异无统计学意义(P> 0. 05);各民族EH组及对照组男女间该位点基因型及等位基因分布比较,差异无统计学意义(P> 0. 05);遗传模式分析结果显示,3个民族人群在共显性遗传模式下CC、CT、TT基因型与EH的发生无相关性(P> 0. 05);布依族人群MTHFR基因rs1801133位点的最优遗传模式为隐性遗传模式,该遗传模式下TT基因型为危险基因型(OR=5. 33,95%CI为1. 14~24. 82,P <0. 05);贵州汉族与苗族、布依族之间MTHFR基因rs1801133位点多态性分布比较,差异有统计学意义(P <0. 05)。结论:贵州省布依族人群EH的发生可能与MTHFR基因rs1801133位点多态性有关联,TT基因型可能为EH发病的危险因素;贵州汉族与苗族、布依族之间MTHFR基因rs1801133位点多态性分布存在差异。
Objective: To investigate the relationship between rs1801133 locus polymorphism of the methylenetetrahy defoliate reductase( MTHFR) gene and essential hypertension( EH) in Miao,Bouyei and Han ethnics in the Guizhou province of China. Methods: 850 samples of EH group and control group involved in the study,including 137 cases of Leishan Miao group,131 cases of Libo Bouyei group,163 cases of Guiyang Han group; while in control group: l28 cases of Leishan Miao group,131 cases of Libo Bouyei group,160 cases of Han group in Guiyang. TaqMan probe technique was used to detect the genotyping of rs1801133 locus of MTHFR. SPSS and SNPStats online software were used to analyze the distribution difference of site polymorphism in both groups, and the distribution difference in different ethnics and genders. Results: The rs1801133 locus of MTHFR gene showed C and T allele,as well as genotypes of CC,CT and TT in both groups. Genotyping resulting indicated that significant difference between Bouye EH group and control group( P < 0. 05),but there was no significant difference between Hany and Miao ethnics EH group and control group( P < 0. 05);as it was shown in genetic models,there was no significant difference between male and female in all ethnic EH groups( P > 0. 05),but there was no correlation between genotypes of CC,CT and TT in codominant genetic models of three ethnic groups and EH occurrence( P > 0. 05). The prime genetic model of rs1801133 locus of MTHFR gene in Bouye group is recessive inheritance model,in which TT genotype is the risk genotypes( OR = 5. 33,95% CI: 1. 14 ~ 24. 82,P < 0. 05). MTHFR gene rs1801133 polymorphism of Guizhou Han group was different from Miao group and Bouyei nationality( P < 0. 05). Conclusion: The polymorphism of the rs1801133 locus of the MTHFR gene may be involved in the risk for EH in the Bouyei indigenous in the Guizhou province of China,and TT genotype may be a risk factor for EH pathogenesis. The polymorphism distribution of this locus was unique among the Han,Miao and Bouyei groups in the province.

关键词(KeyWords): 亚甲基四氢叶酸还原酶;少数民族;危险因素;原发性高血压;同型半胱氨酸;基因多态性
methylenetetrahydrofolate reductase(NADPH);minority groups;risk factors;essential hypertension;homocysteine;gene polymorphism

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金资助(31560306);; 贵阳市科技计划项目基金资助[(2017)5-9]

作者(Author): 喻艳琴;谢姣姣;刁晓艳;张秀秀;王婵娟;张婷;单可人;何燕;
YU Yanqin;XIE Jiaojiao;DIAO Xiaoyan;ZHANG Xiuxiu;WANG Chanjuan;ZHANG Ting;SHAN Keren;HE Yan;Key Laboratory of Endemic and Ethnic Diseases,Ministry of Education,Guizhou Medical University;Key Laboratory of Molecular Biology,Guizhou Medical University;Department of Cardiovascular Medicine,the Affiliated Hospital of Guizhou Medical University;

Email:

DOI: 10.19367/j.cnki.1000-2707.2020.03.005

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