kurskvestЧеловек и его здоровьеHumans and their health1998-57461998-5754Kursk State Medical Universitykurskvest-77Research ArticleМЕДИКО-БИОЛОГИЧЕСКИЕ НАУКИMEDICOBIOLOGICAL SCIENCESИсследование взаимосвязи полиморфизма C667T гена MTHFR c риском развития ишемической болезни сердца у русских жителей Центральной РоссииThe relationship between polymorphism C667T of the MTHFR gene and ischemic heart disease risk in russian population of Central RussiaБушуеваО. Ю.BushuevaO. Yu.noemail@neicon.ruДолженковаЕ. М.DolzhenkovaE. M.noemail@neicon.ruБарышевА. С.BaryshevA. S.noemail@neicon.ruИвановаН. В.IvanovaN. V.noemail@neicon.ruРыжаеваВ. Н.RyzhaevaV. N.noemail@neicon.ruРазиньковаН. С.RazinkovaN. S.noemail@neicon.ruПолониковА. В.PolonikovA. V.noemail@neicon.ruКурский государственный медицинский университетРоссияKursk State Medical UniversityRussian Federation201515122017047680Copyright © Бушуева О.Ю., Долженкова Е.М., Барышев А.С., Иванова Н.В., Рыжаева В.Н., Разинькова Н.С., Полоников А.В., 20172017Бушуева О.Ю., Долженкова Е.М., Барышев А.С., Иванова Н.В., Рыжаева В.Н., Разинькова Н.С., Полоников А.В.Bushueva O.Y., Dolzhenkova E.M., Baryshev A.S., Ivanova N.V., Ryzhaeva V.N., Razinkova N.S., Polonikov A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.kursk-vestnik.ru/jour/article/view/77

Известно, что повышенный уровень гомоцистеина является одним из основных факторов риска развития ишемической болезни сердца (ИБС). Метилентетрагидрофолатредуктаза (MTHFR) вовлечена в метаболизм фолиевой кислоты и влияет на уровни гомоцистеина в плазме крови. Полиморфизм C677T гена MTHFR приводит к снижению функциональной активности фермента. Целью исследования было изучение ассоциации C677T полиморфизма гена MTHFR c предрасположенностью к ИБС у русских жителей Центральной России. Материалом для исследования послужили 946 образцов ДНК: 549 пациентов с ИБС и 397 относительно здоровых индивидуумов, сопоставимых по полу и возрасту, без сердечно-сосудистых заболеваний в анамнезе и с нормальным уровнем артериального давления. Генотипирование проводили методом ПЦР в режиме реального времени путём дискриминации аллелей с помощью TaqMan-зондов. При сравнительном анализе частот аллелей и генотипов C677T полиморфизма гена MTHFR различий между исследуемыми группами обнаружено не было. Таким образом, C677T полиморфизм гена MTHFR не оказывает влияния на развитие ИБС у русских жителей Центральной России.

It is well known that individuals with elevated levels of plasma homocysteine are high-risk group for ischemic heart disease (IHD). The methylenetetrahydrofolate reductase (MTHFR) enzyme is involved in folate metabolism and influences plasma homocysteine concentrations. The common variant C677T in MTHFR gene is associated with the decreased enzyme activity. The aim of this study was to investigate the association of polymorphisms C677T (rs1801133) of the MTHFR gene with the risk for IHD in population of Central Russia. We studied DNA samples obtained from 946 subjects, including 549 IHD patients and 397 sex- and age-matched healthy individuals. The polymorphisms were genotyped through a real-time PCR using TaqMan allele-discrimination assays. The comparative analysis showed no difference in allele and genotype frequencies of the MTHFR polymorphism between the cases and control groups. The analysis stratified by gender did not reveal the associations of the MTHFR gene C677T polymorphism with the IHD risk. The study showed that polymorphism C677T of the MTHFR gene is not a susceptibility gene for ischemic heart disease in Central Russia population.

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The authors declare that there are no conflicts of interest present.