ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2025.92.04ymj-3056Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHПолиморфизм серотонинергической системы (5-HTTLPR) у пациентов со спиноцеребеллярной атаксией 1 типа: сравнительный анализ на модели изолированной популяции якутовPolymorphism of the serotonergic system (5-HTTLPR) in patients with spinocerebellar ataxia type 1: a comparative analysis on an isolated model of Yakut populationhttps://orcid.org/0009-0005-5977-5518КрыловА. В.KrylovA. V.

Крылов Алексей Васильевич ‒ м.н.с.

677000, Якутск, ул. Ярославского, 6/3

alexkrulovwork@gmail.comhttps://orcid.org/0000-0001-7862-1876ПавловаН. И.PavlovaN. I.

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

677000, Якутск, ул. Ярославского, 6/3

solnishko_84@inbox.ruhttps://orcid.org/0000-0002-2143-0021КононоваС. К.KononovaS. K.

Кононова Сардана Кононовна ‒ к.б.н., гл.н.с.-руковод. отдела.

677000, Якутск, ул. Ярославского, 6/3

konsard@rambler.ruhttps://orcid.org/0009-0008-5414-4102БочуровА. A.BochurovA. A.

Бочуров Алексей Алексеевич ‒ м.н.с.

677000, Якутск, ул. Ярославского, 6/3

binbaher@mail.ruФГБНУ «Якутский научный центр комплексных медицинских проблем»Russian Federation202530122025042225Copyright © Крылов А.В., Павлова Н.И., Кононова С.К., Бочуров А.A., 20252025Крылов А.В., Павлова Н.И., Кононова С.К., Бочуров А.A.Krylov A.V., Pavlova N.I., Kononova S.K., Bochurov A.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/3056

Проведено изучение распределения полиморфизма 5-HTTLPR гена транспортёра серотонина SLC6A4 у якутских пациентов с подтвержденной СЦА1. Данный полиморфизм считается одним из факторов, потенциально влияющих на психическое состояние пациентов с СЦА1. Распределение генотипов (LL, SL, SS) и аллелей (L, S) оказалось сходным у пациентов и здоровых лиц в контрольной группе, значимых различий не выявлено (χ², p=0,610). ОШ для носителей S-аллеля составило 1,201 (95% ДИ 0,690–2,092), что свидетельствует об отсутствии достоверной ассоциации полиморфизма 5-HTTLPR с наличием СЦА1. При этом в обеих группах отмечена высокая частота короткого S-аллеля и SS-генотипа. Полученные данные указывают, что частоты аллелей и генотипов 5-HTTLPR не различаются у пациентов и здоровых лиц (p>0,05). Однако высокая распространённость S-аллеля и SS-генотипа в обеих группах может способствовать формированию психоэмоциональной уязвимости при тяжёлом течении заболевания. Дальнейшие исследования необходимы для уточнения вклада 5-HTTLPR в развитие депрессивно-тревожных состояний у больных СЦА1.

A study was conducted to determine the distribution of the 5-HTTLPR polymorphism in the serotonin transporter gene SLC6A4 in Yakut patients with confirmed SCA1. This polymorphism is considered a factor potentially influencing the mental state of patients with SCA1. The distribution of genotypes (LL, SL, SS) and alleles (L, S) was similar in patients and controls, with no significant differences observed (χ², p=0.610). The OR for S allele carriers was 1.201 (95% CI 0.690–2.092), indicating no reliable association between the 5-HTTLPR polymorphism and the presence of SCA1. However, the overall Yakut sample demonstrated a high frequency of the short S allele and the SS genotype. These findings suggest that allele and genotype frequencies of 5-HTTLPR do not differ significantly between patients and healthy individuals (p>0.05). Nevertheless, the high prevalence of the S allele and SS genotype in both groups may contribute to psycho-emotional vulnerability in the context of a severe disease course. Further studies are required to clarify the role of 5-HTTLPR in the development of depressive and anxiety disorders in patients with SCA1.

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