title: 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.
abstract: OBJECTIVE
  Periconceptional folate supplementation prevents a number of congenital anomalies (CA). The aim of our study was to investigate the association of 11 polymorphisms in the folate-metabolizing genes with the risk of having an offspring with CA in the Russian ethnic group.
  
  
  METHODS
  We genotyped 280 mothers having a CA-affected pregnancy and 390 control mothers. The most common malformations among the cases were CA of the nervous, urinary, and cardiovascular systems, and these groups were analyzed separately.
  
  
  RESULTS
  In the whole group of CA, we revealed the associations of MTHFR C677T and MTR A2756G loci with increased risk of CA-affected pregnancy. In the group of CA of the cardiovascular system, we observed an association of MTHFR A1298C with decreased risk and an association of MTR A2756G with increased risk of CA. After the Bonferroni correction, only the association between the genotype MTR 2756GG and the risk of having a fetus with CA of the cardiovascular system remained statistically significant (OR = 4.99, P = 0.03).
  
  
  CONCLUSIONS
  These findings indicate that locus A2756G in the MTR gene may play a role in susceptibility to CA of the cardiovascular system in West Siberia, but further research is necessary to confirm the association.
authors.affiliation: Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia.
authors.forename: Alexandra S
authors.initials: AS
authors.lastname: Weiner
authors.forename: Ludmila A
authors.initials: LA
authors.lastname: Gordeeva
authors.forename: Elena N
authors.initials: EN
authors.lastname: Voronina
authors.forename: Uljana A
authors.initials: UA
authors.lastname: Boyarskikh
authors.forename: Andrey V
authors.initials: AV
authors.lastname: Shabaldin
authors.forename: Maxim L
authors.initials: ML
authors.lastname: Filipenko
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics*; D000328:Adult; D018376:Cardiovascular Abnormalities / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D016022:Case-Control Studies; D000013:Congenital Abnormalities / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009421:Nervous System Malformations / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D012800:Siberia / Q000453:epidemiology; D014564:Urogenital Abnormalities / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase