The effect of polymorphisms C677T and А1298С gene MTHFR on the reproductive function of men


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References. Disturbances of spermogram parameters are associated with infertility in men and are determined by polymorphisms of many genes involved in spermatogenesis. Folate metabolism plays an important role in spermatogenesis, as it is involved in the synthesis, repair and methylation of DNA. Objective: the distribution of C677T (rs1801133) and A1298C (rs1801131) polymorphisms of the MTHFR gene among infertile and fertile men in the Moscow region and to identify a possible Association of these polymorphisms with the risk of pathospermia. Materials and methods: the study included 127 infertile men with different forms of pathospermia and 68 fertile men (with one or more children). Genotyping of polymorphisms (C677T and A1298C) gene MTHFR was performed by real-time polymerase chain reaction (PCR-RV). Results. Analysis of the distribution of MTHFR genotypes (C677T and A1298C) revealed no significant differences in the distribution of genotypes in groups of infertile and fertile men. The frequency of minor allele 1298S in asthenospermia was 52%, in teratospermia was 36% and in men with azzospermia - 33% (х2=8.67; p=0.003). Discussion. To date, there are no published results on the study of the Association of polymorphisms of folate-metabolizing enzyme genes with the development of pathospermia among men in the Moscow region. The results of our study demonstrate that А1298С polymorphism of the MTHFR gene may be involved in the etiology of male infertility in patients of the Moscow region. Conclusion. Comparative analysis of gene and genotype frequencies by the studied polymorphisms in infertile men with different forms of pathospermia showed an associative relationship of allele 1298C of MTHFR gene with the risk of asthenozoospermia (p<0.05).

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作者简介

N. Kulchenko

Peoples’ Friendship University of Russia

Email: kle-kni@mail.ru

G. Myandina

Peoples’ Friendship University of Russia

Email: myandina_ gi@pfur.ru

H. Alhejoj

Peoples’ Friendship University of Russia

Email: alhedjoj_hasan@mail.ru

E. Tarasenko

Peoples’ Friendship University of Russia

Email: tarasenko_ ev@inbox.ru

参考

  1. Gelbaya T.A., Potdar N., Jeve Y.B., Nardo L.G. Definition and epidemiology of unexplained infertility. Obstet. Gynecol. Surv. 2014;69(2): 109-115. doi: 10.1097/0GX.0000000000000043
  2. Hotaling J., Carrell D.T. Clinical genetic testing for male infertility: current applications and future directions. Andrology. 2014;2:339-350. doi: 10.1111/j.2047-2927.2014.00200.x
  3. Skakkeback N.E., Rajport-De Meyts E. Male reproductive disorders and fertility trends influences of environment and genetic susceptibility. Physiol Rev. 2016;96(1):55-97. doi: 10.1152/physrev.00017.2015.
  4. Ravel C., Chantot-Bastaraud S., Chalmey C., Barreiro L., Aknin-Seifer I., Pfeffer J., Berthaut I., Mathieu E.E., Mandelbaum J., Siffroi J.P. Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. PLoS One. 2009;4:e6540. doi: 10.1371/journal.pone.0006540.
  5. Гамидов С.И., Попова А.Ю., Гасанов Н.Г., Овчинников Р.И., Шатылко Т.В. Оценка влияния комплекса «БЕСТФертил» на показатели спермограммы, оксидативного стресса и фрагментации ДНК сперматозоидов у мужчин с бесплодием. Андрология и генитальная хирургия. 2019;20(1):91-98). https://doi. org/10.17650/2070-9781-2019-20-1-91-98
  6. Myandina G.I., Hasan A., Azova M.M., Tarasenko E.V., Kulchenko N.G. Influence of GSTP1 gene polymorhism on decreased semen quality. Russian Open Medical Journal 2019;8:e041.
  7. Ferlin A. New genetic markers for male infertility. Asian J. Androl. 2012;14:807-808. doi: 10.1038/aja.2012.84
  8. Кульченко Н.Г. Прогнозирование успеха вспомогательных репродуктивных технологий с помощью оценки морфологии яичка. Исследования и практика в медицине. 2018;5(4):18-25). doi: 10.17709/2409-22312018-5-4-2.
  9. Курило Л.Ф., Андреева М.В., Коломиец О.В., Сорокина Т.М., Черных В.Б., Шилейко Л.В., Хаят С.Ш., Демикова Н.С., Козлова С.И. Генетические синдромы с нарушениями развития органов половой системы. Андрология и генитальная хирургия. 2013;14(4): 17-27). https://www.elibrary.ru/ item.asp?id=21149895
  10. Myandina G.I., Kulchenko N.G., Alhejoj H. Polimorfism G-105A SEPS1 Gene and Mens’s Infertility. Medical News of North Caucasus. 2018;13(3):488-490. https://doi.org/10.14300/mnnc.2018.13085
  11. Gupta N., Gupta S., Dama M., David A., Khanna G., Khanna A and Rajender S. Strong association of 677 C. > T. substitution in the MTHFR gene with male infertility - A study on an Indian population and a meta-analysis. PLoS One. 2011;6:e22277.
  12. Myandina G.I., Kulchenko N.G., Alhejoj H.The frequency ofpolymorphism -262 C>T CAT gene of infertile men in the Moscow region. Medical News of North Caucasus. 2019;14(3):478-481. https://doi.org/10.14300/ mnnc.2019.14116
  13. Kurzawski M., Wajda A., Malinowski D., Kazienko A., Kurzawa R., Drozdzik M. Association study offolate-related enzymes (MTHFR, MTR, MTRR) genetic variants with non-obstructive male infertility in a Polish population. Genetics and Molecular Biology. 2015;38(1):42-47. doi: 10.1371/journal.pone.0022277.
  14. Camprubi C., Pladevall M., Grossmann M., Garrido N., Pons M.C., Blanco J.J. Lack of association of MTHFR rs1801133 polymorphism and CTCFL mutations with sperm methylation errors in infertile patients. J. Assist Reprod Genet. 2013;30(9):1125-1131. doi: 10.1007/s10815-013-0013-2.
  15. Бушуева Н.А., Воробьева Н.А. Уровень гомоцистеинемии и гены фолатного обмена у спортсменов в условиях проживания на европейском севере. Тромбоз, гемостаз и реология. 2017;1(69):45- 49). https://www.elibrary.ru/item.asp?id=28392884
  16. Yang Y., Luo Y.Y., Wu S., Tang Y.D., Rao X.D., Xiong L., Tan M.,, Deng M.Z., Liu H. Association between C677T and А1298С polymorphisms of the MTHFR gene and risk of male infertility: a meta-analysis. Genetics and Molecular Research. 2016;15(2):gmr.15027631. Doi: 10.4238/ gmr.15027631.
  17. Montjean D., Benkhalifa M., Dessolle L., Cohen-Bacrie P., Belloc S., Siffroi J.P., Ravel C., Bashamboo A., McElreavey K. Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts. Fertil Steril. 2011;95(2):635-640. doi: 10.1016/j.fertnstert.2010.08.054.
  18. Murphy L.E., Mills J.L., Molloy A.M., Qian C., Carter T.C., Strevens H., Wide-Swensson D., Giwercman A., Levine R.J. Folate and vitamin B12 in idiopathic male infertility. Asian J. Androl. 2011;13:856-861. doi: 10.1038/aja.2011.96
  19. Rai V., Kumar P. Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Male Infertility in Asian Population. Indian J. Clin Biochem. 2017;32(3):253-260. https://doi.org/10.1007/s12291-017-0640-y
  20. Singh K., Singh S.K., Sah R. Singh, I., Raman, R. Mutation C677T in the methylenetetrahydrofolate reductase gene is associated with male infertility in an Indian population. Int. J. Androl. 2005;28(2):115-119. https://doi.org/10.1111/j.1365-2605.2004.00513.x
  21. Gava M.M., Chagas Ede O., Bianco B., Christofolini D.M., Pompeo A.C. Methylenetetrahydrofolate reductase polymorphisms are related to male infertility in Brazilian men. Genet Test Mol Biomarkers. 2011;15:153- 157. doi: 10.1089/gtmb.2010.0128.
  22. Wei B., Xu Z., Ruan J., Zhu M., Jin K., Zhou Z. MTHFR 677C>T and 1298A>C polymorphisms and male infertility risk: meta-analysis. Mol Biol Rep. 2012;39:1997-2002. https://doi.org/10.1007/s11033-011-0946-4
  23. Ullah N., Mansoor A., Micheal S., Mirza B., Qamar R., Mazhar K., Siddiqi S. MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world. Per Med. 2019 16(1):35-49. doi: 10.2217/pme-2018-0045.
  24. Mfady D.S., Sadiq M.F., Khabour O.F., Fararjeh A.S., Abu-Awad A., Khader Y. Associations of variants in MTHFR and MTRR genes with male infertility in the Jordanian population. Gene. 2014;536(1):40-44. doi: 10.1016/j.gene.2013.12.001
  25. Феськов А.М., Феськова И.А., Жилкова Е.С., Егунькова Е.В. Аллельные полиморфизмы генов фолатного обмена у мужчин со сниженной репродуктивной функцией. Проблемы репродукции. 2013;19(1):70-72). https://www. elibrary.ru/item.asp?id=18925577
  26. Aston K.I. Genetic susceptibility to male infertility: news from genome-wide association studies. Andrology. 2014;2315-2321. doi: 10.1111/j.2047-2927.2014.00188.x.
  27. Kim S.Y., Lim J.W., Kim J.W., Park S.Y., Seo J.T. Association between genetic polymorphisms in folate-related enzyme genes and infertile men with non-obstructive azoospermia. Syst Biol Reprod Med. 2015;61(5):286-292. Doi:: 10.3109/19396368.2015.1049752.
  28. Ni W., Li H., Zhang P., Yang H., Yang X., Huang X., Jiang L. Lack of association between genetic polymorphisms in three folate related enzyme genes and male infertility in Chinese population. J. Assist Reprod Genet. 2015;32(3):369-374. doi: 10.1007/s10815-014-0423-9

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