Biopolym. Cell. 2026; 42(Special Issue):64.
https://doi.org/10.7124/bc.000B7B
Biomarkers and molecular diagnostics
Estimation of allelic frequencies at some loci, previously associated with substance use disorders, in ukrainians and in the 1000 genomes dataset
1Krektun U. V., 2Vasylieva V. S., 2Borysovych Y. H., 2Zahorodnia O. O., 2Zaplatnikov Y. S., 2Arefiev I. O., 3Bondarenko O. M., 3Brezitska N. V., 3Turos O. I., 5, 6Kaakinen M. A., 7Prokopenko I. P., 3, 4Bashynska V. V.
  1. Kyiv School of Economics
    3, Mykoly Shpaka Str., Kyiv, Ukraine, 02000
  2. Taras Shevchenko National University of Kyiv
    64, Volodymyrska Str., Kyiv, Ukraine, 01601
  3. SI «Marzieiev Institute for Public Health of the NAMS of Ukraine»
    50, Hetman Pavlo Polubotka Str., Kyiv, Ukraine, 02094
  4. Ukrainian Institute for Systems Biology and Medicine
    3, Dorogozhitska Str., Kyiv, Ukraine, 04119
  5. University of Helsinki
    33, Fabianinkatu, Helsinki, Finland, 00014
  6. Imperial College London
    90, Wood Lane, London, UK, W12 0BZ
  7. University of Surrey
    Guildford, UK, GU2 7XH

Abstract

Background/Aim. Substance use disorders (SUDs) are complex polygenic conditions in which genetics accounts for about 50% of the variability [Gerring et al. 2024]. Eastern European populations are understudied, so we aimed to compare the distribution of alleles in a sample of healthy volunteers from Ukraine with the 1000 Genomes (1000G) groups at the COMT-rs4680, ADH1BADH1C- rs1789891, and HTR2A-rs6313 loci, that are associated with SUDs in other populations. Methods. DNA was extracted using Zymo Quick-DNA Miniprep. Genotyping was done using custom-made primers, TaqMan probes produced by Metabion. We compared genotype frequencies among 264 individuals with the 1000G data using χ2 test. Results. The allele frequencies in the Ukrainian population for the examined loci are: COMT-rs4680 A/G:48.81%/51.19%, HTR2A-rs6313 C/T:63.64%/36.36%, ADH1B- ADH1C-rs178989 A/C:12.17%/87.83%. Genotype frequencies at COMT-rs4680 have statistically significant differences from the African (AFR; p = 5,98 × 10–24), American (AMR; p = 3,47 × 10–8), and East Asian (EAS; p = 3,22 × 10–25) population groups, while being similar to South Asian (SAS) and European (EUR) (p > 0.05). For HTR2A-rs6313, statistically significant differences were found from the EUR (p = 0.0017), EAS (p = 9.83×10–24), and SAS (p = 0.013) groups, while AMR and AFR do not differ statistically (p > 0.05) from the Ukrainian population. Genotype frequencies at ADH1B-ADH1C-rs1789891 significantly differed from all superpopulations in the 1000G: EUR (p = 0.03), AFR (p = 6.33 × 10–149), AMR (p = 0.02), EAS (p = 2.006 × 10–15), and SAS (p = 0.0075). Conclusions. We found differences in allele distribution of the studied loci for the Ukrainian population compared to the groups from the 1000G project. Ukrainian genotype distributions at ADH1B-ADH1C-rs1789891 differ from all the 1000G superpopulations. For COMT-rs4680, there is similarity with SAS and EUR groups, for the HTR2A-rs6313, with AMR and AFR. For more detailed conclusions, more diverse reference databases should be used.
Keywords: substance use disorders, COMT, rs4680, ADH1B-ADH1C, rs1789891, HTR2A, rs6313
Full text: (PDF, in English)