Comparative analysis of the 5-HTTLPR polymorphism of SLC6A4 gene in Russian and Yakut populations
https://doi.org/10.25789/YMJ.2025.91.03
Abstract
The 5-HTTLPR polymorphism of the SLC6A4 gene plays a key role in the regulation of serotonergic transmission and may influence susceptibility to anxiety and depressive disorders. This study presents a comparative analysis of the distribution of genotypes and alleles of this polymorphism in representatives of the Russian (n = 250) and Yakut (n = 260) ethnic groups. A significantly higher prevalence of the S allele (77.7%) and the homozygous SS genotype (63.8%) was observed in the Yakut population compared to the Russian group (44.8% and 20.8%, respectively; p < 0.001). The Russian sample was characterized by a higher frequency of the L allele and the SL genotype. The identified differences reflect the high frequency of the S allele characteristic of the Indigenous peoples of Siberia and underscore the ethnic specificity of genetic factors involved in psycho-emotional regulation.
About the Authors
A. V. KrylovRussian Federation
N. I. Pavlova
Russian Federation
A. A. Bochurov
Russian Federation
References
1. Butovskaya P.R., Lazebny O.E., Fekhretdinova D.I., et al. Identification of the association of polymorphisms of four genes of the serotonin system (5-HT1A, 5-HT1A, 5-HT2A and MAOA) with personality traits in athletes of strength sports. Molecular genetics, microbiology and virology. 2015;(4):9-15.
2. Golimbet V.E., Korovaytseva G.I., Brusov O.S., et al. The functional state of the serotonergic system and the polymorphism of the 5-HTTLPR serotonin transporter gene in patients with schizophrenia. Molecular biology. 2010;(2):251–256.
3. Gureev A.S., Kim A.A., Sanina E.D., et al. Frequency distribution of vntr alleles of the 5-httlpr locus of the serotonin transporter gene in populations of Eurasia and Africa. Human ecological genetics. 2014;(3):71–86.
4. Kot T.L. Chronobiological characteristics of the structure of exacerbations and therapy of depression in the northern region. Psychiatry, psychotherapy and clinical psychology. 2017;(2):216220.
5. Krylov A.V., Pavlova N.I., Bocharov A.A., et al. Search for factors that increase the risk of developing anxiety and depressive disorders in the Yakut population. Yakut Medical Journal. 2024;(4):16-20. doi: 10.25789/YMJ.2024.88.04.
6. Krylov A.V., Pavlova N.I., Kononova S.K., et al. Epigenetics of common neurodegenerative diseases in the Yakut population. Modern problems of science and education. 2023;(4):141. doi: 10.17513/spno.32745.
7. Bousman CA, Stevenson JM, Ramsey LB, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants. Clin Pharmacol Ther. 2023;114(1):51–68. doi: 10.1002/cpt.2903.
8. Jang YJ, Lim SW, Moon YK, Kim SY, et al. 5-HTTLPR-rs25531 and Antidepressant Treatment Outcomes in Korean Patients with Major Depression. Pharmacopsychiatry. 2021;54(6):269–278. doi: 10.1055/a-1478-4574.
9. Jarčušková D, Tkáč I, Hlaváčová N, Yaluri AS, et al. Serotonin transporter 5-HTTLPR polymorphism and escitalopram treatment response in patients with major depressive disorder. BMC Psychiatry. 2024;24(1):690. doi: 10.1186/s12888024-06162-8.
10. Murdoch JD, Speed WC, Pakstis AJ, et al. Worldwide population variation and haplotype analysis at the serotonin transporter gene SLC6A4 and implications for association studies. Biol Psychiatry. 2013;74(12):879–89. doi: 10.1016/j.biopsych.2013.02.006.
11. Parker EL, Banfield M, Fassnacht DB, Hatfield T, et al. Contemporary treatment of anxiety in primary care: a systematic review and meta-analysis of outcomes in countries with universal healthcare. BMC Fam Pract. 2021;22(1):92. doi: 10.1186/s12875-021-01445-5.
12. Rees E, Owen MJ. Translating insights from neuropsychiatric genetics and genomics for precision psychiatry. Genome Med. 2020;12(1):43. doi: 10.1186/s13073-020-00734-5.
13. Savostyanov AN, Bazovkina DV, Lashin SА, et al. Comprehensive analysis of the 5-HTTLPR allelic polymorphism effect on behavioral and neurophysiological indicators of executive control in people from different ethnic groups in Siberia. Zhurnal Genet Selektsii. 2021;25(5):593–602. doi: 10.18699/VJ21.066.
14. Sowa-Kućma M, Stachowicz K. Special Issue: Molecular Research on Depression. Int J Mol Sci. 2025;26(2):643. doi: 10.3390/ijms26020643.
15. Stein K, Maruf AA, Müller DJ, Bishop JR, et al. Serotonin Transporter Genetic Variation and Antidepressant Response and Tolerability: A Systematic Review and Meta-Analysis. J Pers Med. 2021;11(12):1334. doi: 10.3390/jpm11121334.
Review
For citations:
Krylov A.V., Pavlova N.I., Bochurov A.A. Comparative analysis of the 5-HTTLPR polymorphism of SLC6A4 gene in Russian and Yakut populations. Yakut Medical Journal. 2025;(3):16-19. (In Russ.) https://doi.org/10.25789/YMJ.2025.91.03