叶酸代谢通路相关酶基因多态性与先天性心脏病的关系研究
摘要
<正>先天性心脏病(CHD)发病率占婴儿出生率的1%左右,这种先天缺陷可以导致一些婴儿死亡,也是婴幼儿出生后就医的常见原因~([1])。目前普遍观点认为,CHD的发生大多是遗传因素和环境因素相互作用的结果,甚至和胚胎或发育时期所承担的压力和焦虑有关~([2])。最近几年的一些流行病学研究表明,在妊娠前期摄取叶酸起着非常重要的作用,是可以干预CHD发生的重要因素~([3])。叶酸的作用之一是参与
引文
[1]Parnell A,Correa A.Analyses of trends in prevalence of congenital heart defects and folic acid supplementation[J].J Thorac Dis,2017,9(3):495-500.
[2]Nakamura M,Kita S,Kikuchi R,et al.A Qualitative Assessment of Adolescent Girls'Perception of Living with Congenital Heart Disease:Focusing on Future Pregnancies and Childbirth[J].J Pediatr Nurs,2018,38(11):e8-e12.
[3]Parnell A,Correa A.Analyses of trends in prevalence of congenital heart defects and folic acid supplementation[J].J Thorac Dis,2017,9(3):495-500.
[4]Brouns R,Ursem N,Lindemans J,et al.Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects[J].Prenat Diagn,2008,28(6):485-493.
[5]Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population[J].J Med Genet,2004,41(4):256-260.
[6]赵健元.叶酸代谢通路关键酶基因非编码区多态的先天性心脏病易感性研究及功能分析[D].上海,复旦大学,2011.
[7]Iacobazzi V,Infantino V,Castegna A,et al.Hyperhomocysteinemia:related genetic diseases and congenital defects,abnormal DNA methylation and newborn screening issues[J].Mol Genet Metab,2014,113(1-2):27-33.
[8]Srec'kovic'B,Soldatovic I,Colak E,et al.Homocysteine is the confounding factor of metabolic syndrome-confirmed by si MS score[J].Drug Metab Pers Ther,2018,33(2):99-103.
[9]Ma CH,Chiua YC,Wu CH,et al.Homocysteine causes dysfunction of chondrocytes and oxidative stress through repression of SIRT1/AMPK pathway:A possible link between hyperhomocysteinemia and osteoarthritis[J].Redox Biology,2018,15(5):504-512.
[10]Du B,Tian H,Tian D,et al.Genetic polymorphisms of key enzymes in folate metabolism affect the efficacy of folate therapy in patients with hyperhomocysteinaemia[J].Br J Nutr,2018,119(8):887-895.
[11]Wang L,Yang B,Zhou S,et al.Risk factors and methylenetetrahydrofolate reductase gene in congenital heart disease[J].J Thorac Dis,2018,10(1):441-447.
[12]Nauman N,Jalali S,Shami S,et al.Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring:a casecontrol study among Pakistani case and control mothers[J].Asia Pac J Clin Nutr,2018,27(1):253-260.
[13]van Beynum I,den Heijer M,Blom H,et al.The MTHFR 677C->Tpolymorphism and the risk of congenital heart defects:a literature review and meta-analysis[J].QJM,2007,100(12):743-753.
[14]Guo Q,Wang H,Tie L,et al.Parental genetic variants,mthfr 677c>t and mtrr 66a>g,associated differently with fetal congenital heart defect[J].Biomed Res Int,2017,2017:3043476.
[15]Chen D,Wang J,Dan Z,et al.The relationship between methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy:a meta-analysis in multiethnic groups[J].Ophthalmic Genet,2018,39(2):200-207.
[16]Christensen K,Rohlicek C,Andelfinger G,et al.The MTHFD1p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects[J].Hum Mutat,2009,30(2):212-220.
[17]Liao Y,Zhang D,Zhou W,et al.Combined folate gene MTHFDand TC polymorphisms as maternal risk factors for Down syndrome in China[J].Genet Mol Res,2014,13(1):1764-1773.
[18]Wang B,Liu M,Yan W,et al.Association of SNPs in genes involved in folate metabolism with the risk of congenital heart disease[J].JMatern Fetal Neonatal Med,2013,26(18):1768-1777.
[19]Kannt A,Rajagopal S,Kadnur S,et al.A small molecule inhibitor of Nicotinamide N-methyltransferase for the treatment of metabolic disorders[J].Sci Rep,2018,8(1):3660.
[20]Giuliante R,Sartini D,Bacchetti T,et al.Potential involvement of nicotinamide N-methyltransferase in the pathogenesis of metabolic syndrome[J].Metab Syndr Relat Disord,2015,13(4):165-170.
[21]van Driel L,Smedts H,Helbing W,et al.Eight-fold increased risk for congenital heart defects in children carrying the nicotinamide N-methyltransferase polymorphism and exposed to medicines and low nicotinamide[J].Eur Heart J,2008,29(11):1424-1431.
[22]CoppedèF.The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects[J].Front Genet,2015,6(10):223.
[23]裴丽君,任爱国,郝玲,等.还原叶酸载体基因多态性与先天性心脏病和唇腭裂关联的研究[J].中华流行病学杂志,2004,25(12):61-65.
[24]Castro R,Barroso M,Rocha M,et al.The TCN2 776CNG polymorphism correlates with vitamin B(12)cellular delivery in healthy adult populations[J].Clin Biochem,2010,43(7-8):645-649.
[2]Nakamura M,Kita S,Kikuchi R,et al.A Qualitative Assessment of Adolescent Girls'Perception of Living with Congenital Heart Disease:Focusing on Future Pregnancies and Childbirth[J].J Pediatr Nurs,2018,38(11):e8-e12.
[3]Parnell A,Correa A.Analyses of trends in prevalence of congenital heart defects and folic acid supplementation[J].J Thorac Dis,2017,9(3):495-500.
[4]Brouns R,Ursem N,Lindemans J,et al.Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects[J].Prenat Diagn,2008,28(6):485-493.
[5]Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population[J].J Med Genet,2004,41(4):256-260.
[6]赵健元.叶酸代谢通路关键酶基因非编码区多态的先天性心脏病易感性研究及功能分析[D].上海,复旦大学,2011.
[7]Iacobazzi V,Infantino V,Castegna A,et al.Hyperhomocysteinemia:related genetic diseases and congenital defects,abnormal DNA methylation and newborn screening issues[J].Mol Genet Metab,2014,113(1-2):27-33.
[8]Srec'kovic'B,Soldatovic I,Colak E,et al.Homocysteine is the confounding factor of metabolic syndrome-confirmed by si MS score[J].Drug Metab Pers Ther,2018,33(2):99-103.
[9]Ma CH,Chiua YC,Wu CH,et al.Homocysteine causes dysfunction of chondrocytes and oxidative stress through repression of SIRT1/AMPK pathway:A possible link between hyperhomocysteinemia and osteoarthritis[J].Redox Biology,2018,15(5):504-512.
[10]Du B,Tian H,Tian D,et al.Genetic polymorphisms of key enzymes in folate metabolism affect the efficacy of folate therapy in patients with hyperhomocysteinaemia[J].Br J Nutr,2018,119(8):887-895.
[11]Wang L,Yang B,Zhou S,et al.Risk factors and methylenetetrahydrofolate reductase gene in congenital heart disease[J].J Thorac Dis,2018,10(1):441-447.
[12]Nauman N,Jalali S,Shami S,et al.Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring:a casecontrol study among Pakistani case and control mothers[J].Asia Pac J Clin Nutr,2018,27(1):253-260.
[13]van Beynum I,den Heijer M,Blom H,et al.The MTHFR 677C->Tpolymorphism and the risk of congenital heart defects:a literature review and meta-analysis[J].QJM,2007,100(12):743-753.
[14]Guo Q,Wang H,Tie L,et al.Parental genetic variants,mthfr 677c>t and mtrr 66a>g,associated differently with fetal congenital heart defect[J].Biomed Res Int,2017,2017:3043476.
[15]Chen D,Wang J,Dan Z,et al.The relationship between methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy:a meta-analysis in multiethnic groups[J].Ophthalmic Genet,2018,39(2):200-207.
[16]Christensen K,Rohlicek C,Andelfinger G,et al.The MTHFD1p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects[J].Hum Mutat,2009,30(2):212-220.
[17]Liao Y,Zhang D,Zhou W,et al.Combined folate gene MTHFDand TC polymorphisms as maternal risk factors for Down syndrome in China[J].Genet Mol Res,2014,13(1):1764-1773.
[18]Wang B,Liu M,Yan W,et al.Association of SNPs in genes involved in folate metabolism with the risk of congenital heart disease[J].JMatern Fetal Neonatal Med,2013,26(18):1768-1777.
[19]Kannt A,Rajagopal S,Kadnur S,et al.A small molecule inhibitor of Nicotinamide N-methyltransferase for the treatment of metabolic disorders[J].Sci Rep,2018,8(1):3660.
[20]Giuliante R,Sartini D,Bacchetti T,et al.Potential involvement of nicotinamide N-methyltransferase in the pathogenesis of metabolic syndrome[J].Metab Syndr Relat Disord,2015,13(4):165-170.
[21]van Driel L,Smedts H,Helbing W,et al.Eight-fold increased risk for congenital heart defects in children carrying the nicotinamide N-methyltransferase polymorphism and exposed to medicines and low nicotinamide[J].Eur Heart J,2008,29(11):1424-1431.
[22]CoppedèF.The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects[J].Front Genet,2015,6(10):223.
[23]裴丽君,任爱国,郝玲,等.还原叶酸载体基因多态性与先天性心脏病和唇腭裂关联的研究[J].中华流行病学杂志,2004,25(12):61-65.
[24]Castro R,Barroso M,Rocha M,et al.The TCN2 776CNG polymorphism correlates with vitamin B(12)cellular delivery in healthy adult populations[J].Clin Biochem,2010,43(7-8):645-649.