贵阳市汉族女性5,10-亚甲基四氢叶酸还原酶、甲硫氨酸合成还原酶基因多态性分布研究
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摘要
目的分析贵阳市汉族女性5,10-亚甲基四氢叶酸还原酶(MTHFR) C677T、A1298C及甲硫氨酸合成酶还原酶(MTRR) A66G基因多态性的分布特征,为进一步群体遗传分析奠定基础。方法采用横断面调查研究方法,以贵阳市219例汉族女性为研究对象。采集口腔黏膜上皮细胞,提取基因组DNA,采用Taqman-MGB技术,进行MTHFR和MTRR基因多态性检测。统计分析本地区基因多态性的分布特征,并与已报道地区进行比较。结果贵阳市汉族女性MTHFR C677T的基因型和等位基因频率与已有相关数据报道的银川、莱芜、济源、惠州、南宁和琼海汉族女性比较,差异有统计学意义(均P<0.01)。MTHFR A1298C的基因型和等位基因频率与莱芜、南宁和琼海汉族女性比较,差异有统计学意义(均P<0.01)。MTRR A66G基因型和等位基因频率与琼海汉族女性比较,差异有统计学意义(均P<0.01); MTRR A66G等位基因频率与南宁汉族女性比较,差异有统计学意义(P<0.05)。MTHFR C677T,A1298C和MTRR A66G基因型和等位基因频率,与昆明汉族女性比较,差异无统计学意义(均P>0.05)。结论贵阳市汉族女性的MTHFR、MTRR基因频率分布有自身特点。
Objective To analyze the distribution characteristics of gene polymorphisms of 5,10-methylenetetrahydrofolate reductase(MTHFR) C677T,A1298C and methionine synthase reductase(MTRR) A66G among Han women in Guiyang,lay the foundation of further genetic analysis of population.Methods A total of 219 Han women were enrolled in this study,then a cross-sectional study was performed.Oral mucosal epithelial cells were collected to abstract genomic DNA.Taqman-MGB technique was used to detect gene polymorphisms of MTHFR and MTRR.The distribution characteristics of gene polymorphisms of MTHFR and MTRR in the region were statistically analyzed,and the results were compared with those reported in other areas.Results There were statistically significant differences in the frequencies of MTHFR C677T genotypes and alleles between Han women in Guiyang and Han women in Yinchuan,Laiwu,Jiyuan,Huizhou,Nanning,and Qionghai(P<0.01).There were statistically significant differences in the frequencies of MTHFR A1298C genotypes and alleles between Han women in Guiyang and Han women in Laiwu,Nanning,and Qionghai(P < 0.01).There were statistically significant differences in the frequencies of MTRR A66G genotypes and alleles between Han women in Guiyang and Han women in Qionghai(P<0.01).There was no statistically significant difference in the frequencies of MTHFR C677T,A1298C and MTRR A66G genotypes and alleles between Han women in Guiyang and Han women in Kunming(P>0.05).Conclusion The distributions of gene polymorphisms of MTHFR and MTRR among Han women in Guiyang have regional features.
Objective To analyze the distribution characteristics of gene polymorphisms of 5,10-methylenetetrahydrofolate reductase(MTHFR) C677T,A1298C and methionine synthase reductase(MTRR) A66G among Han women in Guiyang,lay the foundation of further genetic analysis of population.Methods A total of 219 Han women were enrolled in this study,then a cross-sectional study was performed.Oral mucosal epithelial cells were collected to abstract genomic DNA.Taqman-MGB technique was used to detect gene polymorphisms of MTHFR and MTRR.The distribution characteristics of gene polymorphisms of MTHFR and MTRR in the region were statistically analyzed,and the results were compared with those reported in other areas.Results There were statistically significant differences in the frequencies of MTHFR C677T genotypes and alleles between Han women in Guiyang and Han women in Yinchuan,Laiwu,Jiyuan,Huizhou,Nanning,and Qionghai(P<0.01).There were statistically significant differences in the frequencies of MTHFR A1298C genotypes and alleles between Han women in Guiyang and Han women in Laiwu,Nanning,and Qionghai(P < 0.01).There were statistically significant differences in the frequencies of MTRR A66G genotypes and alleles between Han women in Guiyang and Han women in Qionghai(P<0.01).There was no statistically significant difference in the frequencies of MTHFR C677T,A1298C and MTRR A66G genotypes and alleles between Han women in Guiyang and Han women in Kunming(P>0.05).Conclusion The distributions of gene polymorphisms of MTHFR and MTRR among Han women in Guiyang have regional features.
引文
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[12]蒋武,鲁衍强,李瑛.南宁市壮族和汉族女性MTHFR和MTRR基因单核苷酸多态性比较[J].广西医学,2014,36(11):1517-1519.
[13]王伟人.贵州省2000-2013年医院监测出生缺陷发生率趋势分析[J].遗传与优生,2015,30(6):915-918.
[14]Zhu H,Wicker NJ,Shaw GM,et al.Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects[J].Mol Genet Metab,2003,78(3):216-221.
[15]Fard-Esfahani P,Mohammadi Torbati P,Hashemi Z,et al.Analysis of relation between C677T genotype in MTHFR gene and prostatic cancer in Iranian males[J].Acta Med Iran,2012,50(10):657-663.
[16]Jia J,Ma Z,Wu S.Positive association between MTHFR C677T polymorphism and oral cancer risk:a meta-analysis[J].Tumour Biol,2014,35(5):4943-4948.
[17]Tutuncu NB,Erbas T,Alikasifoglu M,et al.Thermolabile methylenetetrahydrofolate reductase enzyme genotype is frequent in type 2 diabetic patients with normal fasting homocysteine levels[J].J Intern Med,2005,257(5):446-453.
[18]Yu L,Chang K,Han J,et al.Association between Methylenetetrahydrofolate reductase C677T polymorphism and susceptibility to cervical cancer:a meta-analysis[J].PLoS One,2013,8(2):e55835.
[2]郑思佳,贺永强,刘刚,等.出生缺陷研究及防治工作进展[J].中国社区医师,2017,33(11):6-7.
[3]Frosst P,Blom HJ,Milos R,et al.A candidate genetic risk factor for vascular disease:a common mutation in methylenetetrahydrofolate reductase[J].Nat Genet,1995,10(1):111-113.
[4]Oppeneer SJ,Ross JA,Koh WP,et al.Genetic variation in folylpolyglutamate synthase and gamma-glutamyl hydrolase and plasma homocysteine levels in the singapore chinese health study[J].Mol Genet Metab,2012,105(1):73-78.
[5]Nishio K,Goto Y,Kan do T,et al.Serum folate and methylene tetrahydrofolate reductase(MTHFR)C677T polymorphis adjusted for folate intake[J].J Epidemiol,2008,18:125-126.
[6]Eskes TK.Open or closed?A world of difference:a history of homocysteine research[J].Nutr Rev,2010,56(8):236-244.
[7]Jacques PF,Bostom AG,Williams RR,et al.Relation between folate status,a common mutation in methylenetetrahydrofolate reductase,and plasma homocysteine concentrations[J].Circulation,1996,93(1):7-8.
[8]刘晓玲,鲁衍强,李瑛.银川市汉族女性MTHFR与MTRR基因多态性研究[J].宁夏医科大学学报,2014,36(11):1216-1219,1309.
[9]姜玉婵,鲁衍强,李瑛,等.山东省莱芜市汉族女性5,10-亚甲基四氢叶酸还原酶与甲硫氨酸合成酶还原酶基因多态性研究[J].中国基层医药,2014,21(21):3201-3203.
[10]陈小利,鲁衍强,马少杰.河南省济源市汉族女性MTHFR和MTRR基因多态性分布研究[J].中国妇幼卫生杂志,2014,30(4):17-20.
[11]卢光荣,鲁衍强,马少杰.新乡市汉族孕龄女性MTHFR与MTRR基因多态性研究[J].河南医学研究,2014,23(7):7-10.
[12]蒋武,鲁衍强,李瑛.南宁市壮族和汉族女性MTHFR和MTRR基因单核苷酸多态性比较[J].广西医学,2014,36(11):1517-1519.
[13]王伟人.贵州省2000-2013年医院监测出生缺陷发生率趋势分析[J].遗传与优生,2015,30(6):915-918.
[14]Zhu H,Wicker NJ,Shaw GM,et al.Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects[J].Mol Genet Metab,2003,78(3):216-221.
[15]Fard-Esfahani P,Mohammadi Torbati P,Hashemi Z,et al.Analysis of relation between C677T genotype in MTHFR gene and prostatic cancer in Iranian males[J].Acta Med Iran,2012,50(10):657-663.
[16]Jia J,Ma Z,Wu S.Positive association between MTHFR C677T polymorphism and oral cancer risk:a meta-analysis[J].Tumour Biol,2014,35(5):4943-4948.
[17]Tutuncu NB,Erbas T,Alikasifoglu M,et al.Thermolabile methylenetetrahydrofolate reductase enzyme genotype is frequent in type 2 diabetic patients with normal fasting homocysteine levels[J].J Intern Med,2005,257(5):446-453.
[18]Yu L,Chang K,Han J,et al.Association between Methylenetetrahydrofolate reductase C677T polymorphism and susceptibility to cervical cancer:a meta-analysis[J].PLoS One,2013,8(2):e55835.