ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2022.80.11ymj-273Research ArticleЗДОРОВЫЙ ОБРАЗ ЖИЗНИ. ПРОФИЛАКТИКАHEALTHY LIFESTYLE. PROPHYLAXISСвязь полиморфизмов генов HTR2A и 5-HTT с курением у якутовAssociation of polymorphisms of the genes HTR2A and 5-HTT with smoking in YakutsПавловаН. И.PavlovaN. I.

Павлова Надежда Ивановна – к.б.н., в.н.с. – руковод. лаб.,

Pavlova Nadezhda Ivanovna – PhD in Biology, leading researcher - Head of the Laboratory of Hereditary Pathology, Department of Molecular Genetics

solnishko_84@inbox.ruБочуровА. А.BochurovA. A.

Бочуров Алексей Алексеевич – м.н.с.

Bochurov Alexey Alekseevich – junior researcher of the Laboratory of Hereditary Pathology, Department of Molecular Genetics

binbaher@mail.ruКрыловA. B.KrylovV. A.

Крылов   Алексей   Васильевич – м.н.с.; магистрант Ин-та естествен. наук 

Krylov Alexey Vasilievich – junior researcher of the Laboratory of Hereditary Pathology, Department of Molecular Genetics, Yakutsk Scientific Center for Complex Medical Problems; 1st year master student of the Department of General Biology, M.K. Ammosov North-Eastern Federal University

alexkrulovwork@gmail.comАлексеевВ. А.AlekseevV. A.

Alekseev Vladislav Amirovich – junior researcher of the Arctic Medical Center, Yakutsk Scientific Center for Complex Medical Problems

vldslvalekseev@gmail.comЯкутский научный центр комплексных медицинских проблемРоссияYakutsk Scientific Center for Complex Medical ProblemsRussian FederationСеверо-Восточный федеральный университет им. М.К. Аммосова; Якутский научный центр комплексных медицинских проблемРоссияYakutsk Scientific Center for Complex Medical Problems; M.K. Ammosov North-Eastern Federal UniversityRussian FederationАрктический медицинский Центр; Якутский научный центр комплексных медицинских проблемРоссияArctic Medical Center, Yakutsk Scientific Center for Complex Medical ProblemsRussian Federation202206022025044044Copyright © Павлова Н.И., Бочуров А.А., Крылов A.B., Алексеев В.А., 20252025Павлова Н.И., Бочуров А.А., Крылов A.B., Алексеев В.А.Pavlova N.I., Bochurov A.A., Krylov V.A., Alekseev V.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/273

Целью нашего исследования являлось определить, связаны ли полиморфизмы rs6311 гена HTR2A и полиморфизмы 5HTTLPR и rs25531 гена 5-HTT с курением в популяции якутов. Результаты исследования связи полиморфизма rs6311 гена HTR2A с курением показали, что в группе курящих аллель А встречался несколько чаще, чем в группе некурящих. Анализ распределения аллелей и генотипов полиморфизма 5-HTTLPR гена 5-HTT показал преобладание короткой аллели S и генотипа SS в обеих выборках. У курящих наблюдалась достоверно более высокая частота встречаемости аллеля риска L по сравнению с некурящими. При анализе объединенных в группы полиморфизмов 5-HTTLPR и rs25531 было установлено, что в выборке курящих частота аллеля L' была в четыре раза выше, чем в выборке некурящих. Анализ распределения сочетаний генотипов обоих исследованных генов выявил преобладание людей с сочетанием генотипов GG гена HTR2A и S'S' гена 5-HTT, которое показало протективное действие к курению Достоверную связь с курением показало сочетание гетерозиготных генотипов AG гена HTR2A и L'S' гена 5-HTT. В данном исследовании установлена достоверная связь полиморфизмов гена 5-HTT с курением в популяции якутов. В связи с эквивалентной серотониновой экспрессией аллелей S и LG полиморфизмов 5HTTLPR и rs25531 более информативным является их обобщенный анализ.

Tobacco smoking is the most common form of addiction worldwide. The aim of our study was to determine whether the rs6311 polymorphisms of the HTR2A gene and the 5HTTLPR and rs25531 polymorphisms of the 5-HTT gene are associated with smoking in the Yakut population. The study involved 223 people, including 115 smokers and 108 non-smokers. The results of the analysis of the relationship between the rs6311 polymorphism of the HTR2A gene and smoking showed that in the group of smokers, allele A was somewhat more common than in the group of non-smokers (OR - 1.138, 95% CI = [0.742-1.138]). Analysis of the distribution of alleles and genotypes of the 5-HTTLPR polymorphism of the 5-HTT gene showed the predominance of the short S allele (74.8–89.4%) and the SS genotype (61.7–81.5%) in both samples. Smokers had a significantly (p<0.05) higher frequency of the risk allele L (OR -2.830, 95% CI= [1.674 -4.783]) compared to non-smokers. When analyzing the 5-HTTLPR and rs25531 polymorphisms grouped into groups, it was found that the frequency of the L' allele was four times higher in the sample of smokers (p<0.001) than in the sample of non-smokers (OR -4.844, 95% CI = [2.503-9.372]). An analysis of the distribution of combinations of genotypes of both studied genes showed the predominance of people with a combination of GG genotypes of the HTR2A gene and S'S' of the 5-HTT gene, which showed a protective effect on smoking (OR -0.550, 95% CI = [0.319-0.948]). A significant association with smoking was shown by a combination of heterozygous genotypes AG of the HTR2A gene and L'S' of the 5-HTT gene (OR -13.637, 95% CI= [1.752-106.144]). This study established a significant association of 5-HTT gene polymorphisms with smoking in the Yakut population. In connection with the equivalent serotonin expression of the S and LG alleles, 5HTTLPR and rs25531 polymorphisms, it is more informative to carry out their generalized analysis.

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