Polymorphisms rs738409 and rs2294918 of the PNPLA3 gene in the Yakut population
https://doi.org/10.25789/YMJ.2022.78.02
Abstract
The article presents the frequency of polymorphic variants of the PNPLA3 gene (rs2294918 and rs738409) in Yakuts (n=150) living in the Republic of Sakha (Yakutia).
In the studied sample of Yakuts, two diplotypes [GG] [GG] and [CG] [GG] are more common. These diplotypes carry the mutant allele G (rs738409) and do not carry the A allele (rs2294918), which has weakening effect on 148M, which in turn promotes the accumulation of triglycerides in hepatocytes. The data obtained on frequencies of the markers rs738409 and rs2294918 of the PNPLA3 gene can be used in the diagnosis of susceptibility to non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH) to study the genetic mechanisms of human adaptation to cold, as well as the formation of risk groups for these diseases.
About the Authors
N. I. Pavlova
Yakut Scientific Center of Complex Medical Problems
Russian Federation
Russian Federation
Pavlova Nadezhda Ivanovna – Candidate of Biological Sciences, associate researcher, head of the lab.
A. A. Bochurov
Yakut Scientific Center of Complex Medical Problems
Russian Federation
Russian Federation
Bochurov Alexey Alekseevich – junior researcher
V. A. Alekseev
Arctic Medical Center
Russian Federation
Russian Federation
AlekseevVladislav Amirovich – junior researcher
H. A. Kurtanov
Federal State Budget Research Institute SB RAS
Russian Federation
Russian Federation
Kurtanov Khariton Alekseevich – senior researcher
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Review
For citations:
Pavlova N.I., Bochurov A.A., Alekseev V.A., Kurtanov H.A. Polymorphisms rs738409 and rs2294918 of the PNPLA3 gene in the Yakut population. Yakut Medical Journal. 2022;(2):8-12. https://doi.org/10.25789/YMJ.2022.78.02
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