Polymorphism of folate-related genes and congenital heart diseases
Author Affiliations1Novosibirsk State Medical University of Minzdrav of Russia 630091, Novosibirsk, Krasny av., 52
2Institute of Circulation Pathology, of Minzdrav of Russia 630055, Novosibirsk, Rechkunovskaya str., 15
3Novosibirsk State Medical University, 630091, Novosibirsk, Krasny av., 52
4Institute of Internal and Preventive Medicine of SB RAMS, 630089, Novosibirsk, Boris Bogatkov str., 175/1
5Institute of Cytology and Genetics of SB RAS, 630090, Novosibirsk, Prospekt Akademik Lavrentyev, 10; Institute of Internal and Preventive Medicine of SB RAMS, 630089, Novosibirsk, Boris Bogatkov str., 175/1
Abstract
Aim: To study the associations between polymorphism of folate metabolism genes with congenital heart diseases (CHD), paraclinical and clinical features. Methods: Children with congenital heart disease received surgical treatment at the clinic (225 boys and 225 girls). The 156 residents of Novosibirsk population sample aged 25-34 years were examined as a control to determine the population genotype frequencies of polymorphisms of MTHFR (C677T), MTRR (A66G), RFC1 (A80G), MTR (A2756G). Results: The differences in genotypes frequencies of SNPs of MTHFR, MTRR and RFC1 genes between patients with CHD and control have not been found. Statistically significant differences (p = 0.04) between compared groups were observed for А2756G polymorphism of MTR gene. The homozygous 677TT of the MTHFR gene were more frequent in patients with Fallo`s tetrad and other combined heart defects in both sexes. Boys with MTHFR 677CC genotype had lower frequency of conductivity abnormalities before operation then patients with two other genotypes (OR 0.37; 95 % CI 0.16-0.86; р = 0.009). It was also noted that patients with MTHFR 677TT genotype had higher frequency of AV blockade or atrial fibrillation after surgery (p = 0.01).
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About Authors (Correspondence):
Maximov V.N. - doctor of medical sciences, head of the laboratory for molecular genetic studies of therapeutic diseases, e-mail: medik11@mail.ru
Polyakova I.V. - anaesthesiologist-resuscitation specialist, e-mail: liska-pol@mail.ru
Maximova J.V. - doctor of medical sciences, professor, head of the department of medical genetics and biology, e-mail: 164706@mail.ru
Koval O.N. - junior researcher of the laboratory for molecular genetic studies of therapeutic diseases, e-mail: oxen-ok@mail.ru
Voevoda M.I. - doctor of medical sciences, professor, corresponding member of RAMS, director, e-mail: mvoevoda@ya.ru
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