晋东南地区人群亚甲基四氢叶酸还原酶C677T基因多态性分析
|
摘要
目的了解晋东南地区人群亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性的分布情况,为流行病学分析提供科学依据。方法采用实时荧光定量PCR方法,检测1200人MTHFR的C677T基因多态性应用χ~2进行统计分析。结果该地区人群MTHFR的677CC、677CT、677TT基因型频率分别为17.67%,47.00%和35.33%。其中男性人群分别为17.79%,51.21%和31.00%;女性人群分别为17.61%,45.11%和37.27%。男女人群间MTHFR的C677T基因型频率相比差异无统计学意义(χ~2=4.89,P>0.05)。本地区人群C和T等位基因的频率分别为41.17%,58.83%,其中男性分别为43.40%和56.60%,女性分别为40.17%和59.83%。男女人群间C和T位基因的频率相比差异无统计学意义(χ~2=2.42,P>0.05)。结论晋东南人群中MTHFR的C677T基因多态性的分布符合Hardy-Weinberg平衡,为该地区叶酸代谢相关疾病提供流行病学资料。
Objective To survey the distribution characteristics of folic acid metabolic pathway key enzyme methylenetetrahydrofolate reductase(MTHFR) C677 T loci polymorphisms in population of southeastern Shanxin,provide the basis for epidemiological analysis.Methods The genotype of MTHFR C677 T were detected by Quantitative Real time-polymerase chain reaction in 1200 blood samples from the healthy subjects,Chi-square was used to statistical analysis.Results The frequencies of CC genotype,CT genotype and TT genotype in MTHFR C677 T were 17.67%(212/1200),47.00%(564/1200),35.33%(424/1200) in population.The frequencies of CC,CT and TT genotype were 17.79%(66/371),51.21%(190/371),31.00%(115/371) in male,and 17.61%(146/829),45.11%(374/829),37.27%(309/829) in female.There was no significant difference between male and female in frequency of MTHFR C677 T genotypes(χ~2=4.89,P>0.05).The allele frequencies of C and T were 41.17% and 58.83%,the allele frequencies of C and T were 43.40% and 56.60% in male,the allele frequencise of C and T were 40.17% and 59.83% in female,and there was no significant difference between male and female in the allele frequency of C and T(χ~2=2.42,P>0.05).Conclusion The genotypic frequency of MTHFR C677 T was not deviated from Hardy-Weinberg equilibrium.The genetic epidemiological data are useful for the study on disease related to MTHFR for population of southeastern Shanxi.
Objective To survey the distribution characteristics of folic acid metabolic pathway key enzyme methylenetetrahydrofolate reductase(MTHFR) C677 T loci polymorphisms in population of southeastern Shanxin,provide the basis for epidemiological analysis.Methods The genotype of MTHFR C677 T were detected by Quantitative Real time-polymerase chain reaction in 1200 blood samples from the healthy subjects,Chi-square was used to statistical analysis.Results The frequencies of CC genotype,CT genotype and TT genotype in MTHFR C677 T were 17.67%(212/1200),47.00%(564/1200),35.33%(424/1200) in population.The frequencies of CC,CT and TT genotype were 17.79%(66/371),51.21%(190/371),31.00%(115/371) in male,and 17.61%(146/829),45.11%(374/829),37.27%(309/829) in female.There was no significant difference between male and female in frequency of MTHFR C677 T genotypes(χ~2=4.89,P>0.05).The allele frequencies of C and T were 41.17% and 58.83%,the allele frequencies of C and T were 43.40% and 56.60% in male,the allele frequencise of C and T were 40.17% and 59.83% in female,and there was no significant difference between male and female in the allele frequency of C and T(χ~2=2.42,P>0.05).Conclusion The genotypic frequency of MTHFR C677 T was not deviated from Hardy-Weinberg equilibrium.The genetic epidemiological data are useful for the study on disease related to MTHFR for population of southeastern Shanxi.
引文
[1] Rozen R.Genetic predisposition to hyperhomocysteinaemia:deficiency of methylenetetrahydrofolate Reductase(MTHFR)[J].Thromb Haemost,1997,78(1):523-526.
[2] Liew SC,Gupta ED.Methylenetetrahydrofolate Reductase (MTHFR) C677T polymorphism:epidemiology,metabolism and the associated diseases[J].Eur J Med Genet,2015,58(1):1-10.
[3] Rai V.Strong Association of C677T Polymorphism of methylenetetrahydrofolate reductase gene with nosyndromic Cleft Lip/ Palate (nsCL/P)[J].Indian J Clin Biochem,2018,33 (1):5-15.
[4] Zhang T,Lou J,Zhong R,et al.Genetic variants in the folate pathway and the risk of neural tube defects:a meta-analysis of the published literature[J].PLoS ONE,2013,8( 4) :e59570.
[5] Zhu L.Polymorphisms in the methylene tetrahydrofolate reductase and methionine synthase reductase genes and their correlation with unexplained recurrent spontaneous abortion susceptibility[J].Genet Mol Res,2015,14 (3 ):8500-8508.
[6] Zhao M,Wang X,He M,et al.Homocysteine and Stroke Risk:modifying effect of methylenetetrahydrofolate reductase C677T polymorphism and folic acid intervention[J].Stroke,2017,48 (5):1183-1190.
[7] Govette P,SumnerJS,Milos R,et al.Human methylenetetrahydrofolate reductase:isolation of cDNA,mapping and mutation identification[J].Nat Genet,1994,7( 2) :195-200.
[8] Fan S,Yang B,Zhi X,et al.Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms:a cross-sectional descriptive study of 13,473 Chinese adult women[J].Medicine,2016,95(48):e5355.
[9] Yan L,Zhao L,Long Y,et al.Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings:evidence from 25 case-control studies[J].PLoS ONE,2012,7(10):e41689.
[10] Yuan Y,Yu X,Niu F,et al.Genetic polymorphism of methylenetetrahydrofolate reductase as a potential risk factor for congenital heart disease:a meta-analysis in Chinese pediatric population[J].Medicine,2017,96(23):e7057.
[11] Rai V,Yadav U,Kumar P,et al.Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk:A Meta-Analysis from 34 Studies[J].PLoS ONE.2014,9(9):e108552.
[12] 王连,郝胜菊,闫有圣,等.血浆 Hcy 水平及 MTHFR 和 MTRR 基因多态性与复发性流产的相关性研究[J].中国优生与遗传杂志,2017,25(7):18-19.
[13] Jiang B,Chen Y,Yao G,et al.Effects of differences in serm total homocysteine,folate,and vitamin B12 on cognitive impairment in stroke patients[J].BMC Neurol,2014(14):217.
[14] Li MN,Wang HJ,Zhang NR,et al.MTHFR C677T gene polymorphism and the severity of coronary lesions in acute coronary syndrome[J].Medicine(Baltimore),2017,96(49):e9044.
[15] Xu X,Li X,Li J,et al.Meta-analysis of association between variation in the PDE4D gene and ischemic infarction risk in Asian population[J].Neurogenetics Dis,2010,11(3):327-333.
[16] Li Y,Huang T,Zheng Y,et al.Folic Acid Supplementation and the risk of cardiovascular diseases:a Meta-analysis of randomized Controlled Trail[J].Journal of the American Heart Association,2016,5(8):e003768.
[2] Liew SC,Gupta ED.Methylenetetrahydrofolate Reductase (MTHFR) C677T polymorphism:epidemiology,metabolism and the associated diseases[J].Eur J Med Genet,2015,58(1):1-10.
[3] Rai V.Strong Association of C677T Polymorphism of methylenetetrahydrofolate reductase gene with nosyndromic Cleft Lip/ Palate (nsCL/P)[J].Indian J Clin Biochem,2018,33 (1):5-15.
[4] Zhang T,Lou J,Zhong R,et al.Genetic variants in the folate pathway and the risk of neural tube defects:a meta-analysis of the published literature[J].PLoS ONE,2013,8( 4) :e59570.
[5] Zhu L.Polymorphisms in the methylene tetrahydrofolate reductase and methionine synthase reductase genes and their correlation with unexplained recurrent spontaneous abortion susceptibility[J].Genet Mol Res,2015,14 (3 ):8500-8508.
[6] Zhao M,Wang X,He M,et al.Homocysteine and Stroke Risk:modifying effect of methylenetetrahydrofolate reductase C677T polymorphism and folic acid intervention[J].Stroke,2017,48 (5):1183-1190.
[7] Govette P,SumnerJS,Milos R,et al.Human methylenetetrahydrofolate reductase:isolation of cDNA,mapping and mutation identification[J].Nat Genet,1994,7( 2) :195-200.
[8] Fan S,Yang B,Zhi X,et al.Combined genotype and haplotype distributions of MTHFR C677T and A1298C polymorphisms:a cross-sectional descriptive study of 13,473 Chinese adult women[J].Medicine,2016,95(48):e5355.
[9] Yan L,Zhao L,Long Y,et al.Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings:evidence from 25 case-control studies[J].PLoS ONE,2012,7(10):e41689.
[10] Yuan Y,Yu X,Niu F,et al.Genetic polymorphism of methylenetetrahydrofolate reductase as a potential risk factor for congenital heart disease:a meta-analysis in Chinese pediatric population[J].Medicine,2017,96(23):e7057.
[11] Rai V,Yadav U,Kumar P,et al.Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk:A Meta-Analysis from 34 Studies[J].PLoS ONE.2014,9(9):e108552.
[12] 王连,郝胜菊,闫有圣,等.血浆 Hcy 水平及 MTHFR 和 MTRR 基因多态性与复发性流产的相关性研究[J].中国优生与遗传杂志,2017,25(7):18-19.
[13] Jiang B,Chen Y,Yao G,et al.Effects of differences in serm total homocysteine,folate,and vitamin B12 on cognitive impairment in stroke patients[J].BMC Neurol,2014(14):217.
[14] Li MN,Wang HJ,Zhang NR,et al.MTHFR C677T gene polymorphism and the severity of coronary lesions in acute coronary syndrome[J].Medicine(Baltimore),2017,96(49):e9044.
[15] Xu X,Li X,Li J,et al.Meta-analysis of association between variation in the PDE4D gene and ischemic infarction risk in Asian population[J].Neurogenetics Dis,2010,11(3):327-333.
[16] Li Y,Huang T,Zheng Y,et al.Folic Acid Supplementation and the risk of cardiovascular diseases:a Meta-analysis of randomized Controlled Trail[J].Journal of the American Heart Association,2016,5(8):e003768.