Polymorphism of the serotonergic system (5-HTTLPR) in patients with spinocerebellar ataxia type 1: a comparative analysis on an isolated model of Yakut population
https://doi.org/10.25789/YMJ.2025.92.04
Abstract
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.
About the Authors
A. V. Krylov
ФГБНУ «Якутский научный центр комплексных медицинских проблем»
Russian Federation
Russian Federation
N. I. Pavlova
ФГБНУ «Якутский научный центр комплексных медицинских проблем»
Russian Federation
Russian Federation
S. K. Kononova
ФГБНУ «Якутский научный центр комплексных медицинских проблем»
Russian Federation
Russian Federation
A. A. Bochurov
ФГБНУ «Якутский научный центр комплексных медицинских проблем»
Russian Federation
Russian Federation
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For citations:
Krylov A.V., Pavlova N.I., Kononova S.K., Bochurov A.A. Polymorphism of the serotonergic system (5-HTTLPR) in patients with spinocerebellar ataxia type 1: a comparative analysis on an isolated model of Yakut population. Yakut Medical Journal. 2025;(4):22-25. (In Russ.) https://doi.org/10.25789/YMJ.2025.92.04
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