Polymorphisms in folate-metabolizing genes and risk of having an offspring with congenital anomalies in the West Siberian region of Russia: A case-control study

Prenatal Diagnosis

Volumn 32, Issue 11, 2012, Pages 1041-1048

  Weiner, Alexandra S ^a,b   Gordeeva, Ludmila A ^c   Voronina, Elena N ^a   Boyarskikh, Uljana A ^a   Shabaldin, Andrey V ^d   Filipenko, Maxim L ^a  

^a INSTITUTE OF CHEMICAL BIOLOGY AND FUNDAMENTAL MEDICINE   (Russian Federation)

^b NOVOSIBIRSK STATE UNIVERSITY   (Russian Federation)

^c Institute of Human Ecology of the Siberian Branch of the RAS   (Russian Federation)

^d RESEARCH INSTITUTE FOR COMPLEX ISSUES OF CARDIOVASCULAR DISEASES   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); METHIONINE SYNTHASE;

ADULT; ARTICLE; CARDIOVASCULAR MALFORMATION; CASE CONTROL STUDY; CONGENITAL MALFORMATION; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; FOLATE METABOLISM; FOLATE METABOLIZING GENE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; NERVOUS SYSTEM MALFORMATION; PRIORITY JOURNAL; RISK FACTOR; RUSSIAN FEDERATION; STATISTICAL SIGNIFICANCE; URINARY TRACT MALFORMATION;

5-METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; ADULT; CARDIOVASCULAR ABNORMALITIES; CASE-CONTROL STUDIES; CONGENITAL ABNORMALITIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); NERVOUS SYSTEM MALFORMATIONS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; SIBERIA; UROGENITAL ABNORMALITIES;

EID: 84868113393     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.3952     Document Type: Article

References (49)

1. MRC Vitamin Study Research Group, Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 1991;338:131-7.
2. Badovinac RL, Werler MM, Williams PL, et al. Folic acid-containing supplement consumption during pregnancy and risk for oral clefts: a meta-analysis. Birth Defects Res A Clin Mol Teratol 2007;79:8-15.
3. Czeizel AE, Dobo M, Vargha P. Hungarian cohort-controlled trial of periconceptional multivitamin supplementation shows a reduction in certain congenital abnormalities. Birth Defects Res A Clin Mol Teratol 2004;70:853-61.
4. Li DK, Daling JR, Mueller BA, et al. Periconceptional multivitamin use in relation to the risk of congenital urinary tract anomalies. Epidemiology 1995;6:212-8.
5. Yates JR, Ferguson-Smith MA, Shenkin A, et al. Is disordered folate metabolism the basis for the genetic predisposition to neural tube defects? Clin Genet 1987;31:279-87.
6. Hobbs CA, Malik S, Zhao W, et al. Maternal homocysteine and congenital heart defects. J Am Coll Cardiol 2006;47:683-5.
7. Steegers-Theunissen RP, Boers GH, Trijbels FJ, et al. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism 1994;43:1475-80.
8. Takamura N, Kondoh T, Ohgi S, et al. Abnormal folic acid-homocysteine metabolism as maternal risk factors for Down syndrome in Japan. Eur J Nutr 2004;43:285-7.
9. Wong WY, Eskes TK, Kuijpers-Jagtman AM, et al. Nonsyndromic orofacial clefts: association with maternal hyperhomocysteinemia. Teratology 1999;60:253-7.
10. Wang L, Wang F, Guan J, et al. Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects. Am J Clin Nutr 2010;91:1359-67.
11. Bulut HE, Ozdemir O, Basimoglu-Koca Y, et al. Effects of a DNA demethylating agent--5-azacytidine--on testicular morphology during mouse embryo development. Okajimas Folia Anat Jpn 1999;76:47-53.
12. Zagris N, Podimatas T. 5-Azacytidine changes gene expression and causes developmental arrest of early chick embryo. Int J Dev Biol 1994;38:741-4.
13. Afman LA, Blom HJ, Drittij MJ, et al. Inhibition of transmethylation disturbs neurulation in chick embryos. Brain Res Dev Brain Res 2005;158:59-65.
14. Matsuda M, Yasutomi M. Inhibition of cephalic neural tube closure by 5-azacytidine in neurulating rat embryos in vitro. Anat Embryol (Berl) 1992;185:217-23.
15. Pankova EE, Zinhenko LV, Matulevich SA, et al. Polymorphism S{cyrillic}677T{cyrillic} of gene MTHFR as the risk factor congenital pathology at posterity. Kubanskij nauchnyj medicinskij vestnik 2009;6:144-7.
16. Castro R, Rivera I, Ravasco P, et al. 5, 10-methylenetetrahydrofolate reductase (MTHFR) 677C→T and 1298A→C mutations are associated with DNA hypomethylation. J Med Genet 2004;41:454-8.
17. Friso S, Choi SW, Girelli D, et al. A common mutation in the 5, 10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci USA 2002;99:5606-11.
18. van der Put NM, Gabreels F, Stevens EM, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am J Hum Genet 1998;62:1044-51.
19. DeVos L, Chanson A, Liu Z, et al. Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations. Am J Clin Nutr 2008;88:1149-58.
20. Kumar J, Das SK, Sharma P, et al. Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population. J Hum Genet 2005;50:655-63.
21. Munoz JB, Lacasana M, Cavazos RG, et al. Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico. Mol Hum Reprod 2007;13:419-24.
22. Shields DC, Kirke PN, Mills JL, et al. The "thermolabile" variant of methylenetetrahydrofolate reductase and neural tube defects: an evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am J Hum Genet 1999;64:1045-55.
23. Behunova J, Klimcakova L, Podracka L. Urinary tract anomalies associated with MTHFR gene polymorphism C677T in girls. Kidney Blood Press Res 2011;34:465-71.
24. Brandalize AP, Bandinelli E, dos Santos PA, et al. Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. Am J Med Genet 2009;149A:2080-7.
25. Martinelli M, Scapoli L, Pezzetti F, et al. C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers? Am J Med Genet 2001;98:357-60.
26. Pezzetti F, Martinelli M, Scapoli L, et al. Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate. Hum Mutat 2004;24:104-5.
27. van Rooij IA, Vermeij-Keers C, Kluijtmans LA, et al. Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate? Am J Epidemiol 2003;157:583-91.
28. Gonzalez-Herrera L, Castillo-Zapata I, Garcia-Escalante G, et al. A1298C polymorphism of the MTHFR gene and neural tube defects in the state of Yucatan, Mexico. Birth defects res a clin mol teratol 2007;79:622-6.
29. Relton CL, Wilding CS, Laffling AJ, et al. Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. Mol Genet Metab 2004;81:273-81.
30. van der Put NM, van der Molen EF, Kluijtmans LA, et al. Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease. QJM 1997;90:511-7.
31. Galdieri LC, Arrieta SR, Silva CM, et al. Homocysteine concentrations and molecular analysis in patients with congenital heart defects. Arch Med Res 2007;38:212-8.
32. Bosco P, Gueant-Rodriguez RM, Anello G, et al. Methionine synthase (MTR) 2756 (A→G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. Am J Med Genet A 2003;121A:219-24.
33. Fillon-Emery N, Chango A, Mircher C, et al. Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms. Am J Clin Nutr 2004;80:1551-7.
34. Huang L, Song XM, Zhu WL, et al. Plasma homocysteine and gene polymorphisms associated with the risk of hyperlipidemia in northern Chinese subjects. Biomed Environ Sci 2008;21:514-20.
35. Jacques PF, Bostom AG, Selhub J, et al. Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. Atherosclerosis 2003;166:49-55.
36. Klerk M, Lievers KJ, Kluijtmans LA, et al. The 2756A>G variant in the gene encoding methionine synthase: its relation with plasma homocysteine levels and risk of coronary heart disease in a Dutch case-control study. Thromb Res 2003;110:87-91.
37. Ma J, Stampfer MJ, Christensen B, et al. A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk. Cancer Epidemiol Biomarkers Prev 1999;8:825-9.
38. Morita H, Kurihara H, Sugiyama T, et al. Polymorphism of the methionine synthase gene: association with homocysteine metabolism and late-onset vascular diseases in the Japanese population. Arterioscler Thromb Vasc Biol 1999;19:298-302.
39. Siva A, De Lange M, Clayton D, et al. The heritability of plasma homocysteine, and the influence of genetic variation in the homocysteine methylation pathway. QJM 2007;100:495-9.
40. Chen J, Stampfer MJ, Ma J, et al. Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction. Atherosclerosis 2001;154:667-72.
41. Fredriksen A, Meyer K, Ueland PM, et al. Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism. Hum Mutat 2007;28:856-65.
42. Harmon DL, Shields DC, Woodside JV, et al. Methionine synthase D919G polymorphism is a significant but modest determinant of circulating homocysteine concentrations. Genet Epidemiol 1999;17:298-309.
43. Kim OJ, Hong SP, Ahn JY, et al. Influence of combined methionine synthase (MTR 2756A>G) and methylenetetrahydrofolate reductase (MTHFR 677C>T) polymorphisms to plasma homocysteine levels in Korean patients with ischemic stroke. Yonsei Med J 2007;48:201-9.
44. Tsai MY, Bignell M, Yang F, et al. Polygenic influence on plasma homocysteine: association of two prevalent mutations, the 844ins68 of cystathionine beta-synthase and A(2756)G of methionine synthase, with lowered plasma homocysteine levels. Atherosclerosis 2000;149:131-7.
45. Paz MF, Avila S, Fraga MF, et al. Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors. Cancer Res 2002;62:4519-24.
46. Mostowska A, Hozyasz KK, Jagodzinski PP. Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. Clin Genet 2006;69:512-7.
47. Candito M, Rivet R, Herbeth B, et al. Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study. Am J Med Genet 2008;146A:1128-33.
48. Zhu H, Wicker NJ, Shaw GM, et al. Homocysteine remethylation enzyme polymorphisms and increased risks for neural tube defects. Mol Genet Metab 2003;78:216-21.
49. Wilson A, Platt R, Wu Q, et al. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab 1999;67:317-23.