Gene polymorphism associated with risk of development of homocysteine exchange disorders among young healthy women in Transbaikal kray: ethnic and reproductive aspects
Abstract
The frequency characteristics of gene polymorphisms of MTHFR677T, MTHFR1298C, MTRRA66G that determinate folate metabolism and are associated with perinatal or pregnancy complications were studied in 50 Russian and 50 Buryatyoung healthy women of 19-27 years. The frequency of MTHFR677TT mutant genotype was 6 % (10 % among Russian, 2 % among Buryat women). MTHFR1298CC and MTRR66GG mutant genotypes were detected in 9 % and 31 % respectively without any differences between ethnic groups. Multigenic inheritance of MTHFR677TT and MTH-FR 1298CC, MTHFR677CT and MTRR66AG that multiply increase risks of miscarriage and development of defects of nervous tube of fetus were found only in the group of Russian women (2 %).
About the Authors
T. E. Belokrinitskaya
Chita State Medical Academy
Russian Federation
Russian Federation
N. I. Frolova
Chita State Medical Academy
Russian Federation
Russian Federation
N. N. Strambovskaya
Chita State Medical Academy
Russian Federation
Russian Federation
References
1. Генетический паспорт - основа индивидуальной и предикативной медицины / под ред. В.С. Баранова. - СПб.: Изд-во: Н-Л, 2009. - 528 с.
2. Гречанина Е.Я. и др. Закономерная связь между развитием некоторых эпигенетических болезней и нарушением метилирования ДНК вследствие дефицита ферментов фолатного цикла // Ультразвукова перинатальна діагностика. - 2010. -№ 29. - С. 27-59.
3. Постгеномные и нанотехнологические инновации [Электронный ресурс]. - Режим доступа: http://www.pynny.ru.
4. Страмбовская Н.Н. Первичные тромбофилии среди жителей г. Улан-Удэ, больных ишемическим нарушением мозгового кровообращения: автореф. дис.. канд. мед. наук. - Чита: ГОУ ВПО Читинская государственная медицинская академия Росздрава, 2007. - 22 с.
5. Bae J. et al. Prevalent genotypes of methylenetet-rahydrofolate reductase (MTHFR C677T and A1298C) in spontaneously aborted embryos // Fertil. Steril. - 2007. -Vol. 87, N 2. - P. 351-355.
6. Balderrábano-Saucedo N.A. et al. Polymorphism 677C → T MTHFR gene in Mexican mothers of children with complex congenital heart disease // Pediatr. Cardiol. – 2013. – Vol. 34, N 1. – P. 46–51.
7. Blom H.J. Folic acid, methylation and neural tube closure in humans // Birth Defects Res. A Clin. Mol. Teratol. - 2009. - Vol. 85, N 4. - P. 295-302.
8. Bogolub C. Elevated homocysteine? Consider testing for folate metabolism gene variants // Minn. Med. -2012. - Vol. 95, N 12. - Р. 39-42.
9. Brouns R. et al. Polymorphisms in genes related to folate and cobalamin metabolism and the associations with complex birth defects // Prenat. Diagn. - 2008. -Vol. 28, N 6. - P. 485-493.
10. Govindaiah V. et al. Association of parental hyperhomocysteinemia and C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism with recurrent pregnancy loss / / Clin. Biochem. - 2009. - Vol. 42 (4-5). -P. 380-386.
11. Harris M.J. Insights into prevention of human neural tube defects by folic acid arising from consideration of mouse mutants // Birth Defects Res. A Clin. Mol. Teratol. - 2009. - Vol. 85, N 4. - P. 331-339.
12. Laanpere M. et al. Folate-mediated one-carbon metabolism and its effect on female fertility and pregnancy viability // Nutr. Rev. - 2010. - N 68 (2). - P. 99-113.
13. Nadir Y., Hoffman R., Brenner B. Association of homocysteine, vitamin B12, folic acid, and MTHFR C677T in patients with a thrombotic event or recurrent fetal loss // Ann. Hematol. -2007. - Vol. 86, N 1. - P. 35-40.
14. Parén L. et al. Pregnancy and a rare MTHFR hap-lotype // Acta Obstet. Gynecol. Scand. - 2012. - Vol. 91, N 5. - P. 635-636.
15. Parveen F., Tuteja M., Agrawal S. Polymorphisms in MTHFR, MTHFD, and PAI-1 and recurrent miscarriage among North Indian women [Электронный ресурс] // Arch. Gynecol. Obstet. - 2013. - Режим доступа: http://www.ncbi.nlm.nih.gov/pubmed/23685927 (дата обращения 8.07.2013).
16. Seremak-Mrozikiewicz A. The significance of folate metabolism in complications of pregnant women // Ginekol. Pol. - 2013. - Vol. 84, N 5. - P. 377-384.
17. Van Beynum I.M. et al. The MTHFR 677C → T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis // Q.J.M. - 2007. -Vol. 100, N 12. - P. 743-753.
18. West A.A., Caudill M.A. Genetic variation: impact on folate (and choline) bioefficacy // Int. J. Vitam. Nutr. Res. - 2010. - Vol. 80 (4-5). - P. 319-329.
19. Zetterberg H. et al. Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos // Eur. J. Hum. Genet. - 2002. - Vol. 10, N 2. - P. 113-118.
20. Zhang T. et al. Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature // PLoS One. - 2013. - Vol. 8, N 4. -Режим доступа: http://www.ncbi.nlm.nih.gov/pmc/ articles/PMC3617174/ (дата обращения 17.07.2013).
Review
For citations:
Belokrinitskaya T.E., Frolova N.I., Strambovskaya N.N. Gene polymorphism associated with risk of development of homocysteine exchange disorders among young healthy women in Transbaikal kray: ethnic and reproductive aspects. Acta Biomedica Scientifica. 2013;(5):13-16. (In Russ.)
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