Key result
In the Yakut population, the PNPLA3 rs738409 G allele and TM6SF2 rs58542926 C allele were highly prevalent, with the TM6SF2 C allele found in 89% of men and 90% of women.
Why the study?
The study aimed to determine the distribution of alleles and genotypes of the FTO rs9939609, PNPLA3 rs738409, and TM6SF2 rs58542926 SNPs in the Yakut population.
Cross-Sectional (n=85)
No
This study identifies the prevalence of specific genetic polymorphisms (PNPLA3 rs738409 G allele and TM6SF2 rs58542926 C allele) associated with NAFLD risk in the Yakut population.
May inform ethnicity-specific NAFLD risk assessment in Yakuts; leaves open prospective validation before clinical adoption.
The aim of our research was to study the distribution of alleles and genotypes of the FTO rs9939609 SNP, the PNPLA3 rs738409 SNP, and the TM6SF2 rs58542926 SNP in the Yakut population. Methods and Results: A total of 85 DNA samples from the population were tested. An analysis of the frequency distribution of alleles and genotypes of the FTO rs9939609 SNP in the study group did not reveal significant differences. An analysis of the frequency distribution of alleles and genotypes of the PNPLA3 rs738409 SNP revealed that in men and women the G allele and the homozygous GG genotype prevailed. The results of the analysis of the frequency distribution of alleles and genotypes of the TM6SF2 rs58542926 SNP showed the predominance of individuals with the C allele (89% in men and 90% in women) with statistical significance in women. Conclusion: The further studies with a larger sample size are required to detect the features of the distribution of alleles and genotypes of the FTO rs9939609 SNP and the TM6SF2 rs58542926 SNP in that population.
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Diakonova et al. (2021) conducted a cross-sectional in Nonalcoholic fatty liver disease (NAFLD) predisposition (n=85). FTO rs9939609, PNPLA3 rs738409, and TM6SF2 rs58542926 SNPs was evaluated on Frequency distribution of alleles and genotypes. In the Yakut population, the PNPLA3 rs738409 G allele and TM6SF2 rs58542926 C allele were highly prevalent, with the TM6SF2 C allele found in 89% of men and 90% of women.
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