The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts
ABSTRACTNonalcoholic fatty liver disease (NAFLD) is one of the most common chronic liver diseases. It has been reported that specific variants of patatin-like phospholipase domain-containing 3 (PNPLA3) gene, notably SNPs rs738409 and rs2294918 are associated with high risks of liver disease. PNPLA3...
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Taylor & Francis Group
2023
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ftdoajarticles:oai:doaj.org/article:b67b6febdbf648ea9fcb58dd98455213 2024-01-21T10:04:08+01:00 The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts Nadezhda Ivanovna Pavlova Alexey Alexeevich Bochurov Vladislav Amirovich Alekseev Lyubov Akhmedovna Sydykova Vladimir Vladimirovich Dodokhov Khariton Alekseevich Kurtanov Alexey Vasilievich Krylov 2023-12-01T00:00:00Z https://doi.org/10.1080/22423982.2023.2246647 https://doaj.org/article/b67b6febdbf648ea9fcb58dd98455213 EN eng Taylor & Francis Group https://www.tandfonline.com/doi/10.1080/22423982.2023.2246647 https://doaj.org/toc/2242-3982 doi:10.1080/22423982.2023.2246647 2242-3982 https://doaj.org/article/b67b6febdbf648ea9fcb58dd98455213 International Journal of Circumpolar Health, Vol 82, Iss 1 (2023) Gene polymorphism NAFLD PNPLA3 liver Arctic medicine. Tropical medicine RC955-962 article 2023 ftdoajarticles https://doi.org/10.1080/22423982.2023.2246647 2023-12-24T01:42:47Z ABSTRACTNonalcoholic fatty liver disease (NAFLD) is one of the most common chronic liver diseases. It has been reported that specific variants of patatin-like phospholipase domain-containing 3 (PNPLA3) gene, notably SNPs rs738409 and rs2294918 are associated with high risks of liver disease. PNPLA3 rs738409 polymorphism is the main determinant of fatty liver and affects development and progression of NAFLD. rs2294918 is another SNP localised in PNPLA3 gene, it is associated with reduced expression of the PNPLA3 protein, lowering the effect of the rs738409:G variant on predisposition to steatosis and liver damage. The frequencies of alleles, genotypes, haplotypes and diplotypes (combinations of genotypes at two loci) of polymorphic variants of the PNPLA3 gene (rs2294918 and rs738409) were studied in the cohort of Yakuts (n = 150) living in the Republic of Sakha (Yakutia). Genotyping of PNPLA3 (rs738409 and rs2294918) was performed by PCR-PDRF method. The single nucleotide polymorphism rs738409 (I148M) of the PNPLA3 gene in the Yakut population is characterised by a high frequency of the risk allele G (72%). Analysis of the distribution frequency of the rs2294918 polymorphism genotypes showed that the allele G was predominant in 89.3% of individuals of the studied group of Yakuts. In this study, we identified two major diplotypes [GG][GG] and [CG][GG]. The high frequency of the mutant rs738409: G variant in Yakuts may be an adaptation of the organism to low temperatures. The study of the adiponutringene may be an important key to understanding the mechanisms of adaptation to low temperatures and metabolic processes in the indigenous population of the North. Article in Journal/Newspaper Arctic Circumpolar Health International Journal of Circumpolar Health Republic of Sakha Yakutia Yakuts Directory of Open Access Journals: DOAJ Articles Arctic Sakha International Journal of Circumpolar Health 82 1 |
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Open Polar |
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Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
Gene polymorphism NAFLD PNPLA3 liver Arctic medicine. Tropical medicine RC955-962 |
spellingShingle |
Gene polymorphism NAFLD PNPLA3 liver Arctic medicine. Tropical medicine RC955-962 Nadezhda Ivanovna Pavlova Alexey Alexeevich Bochurov Vladislav Amirovich Alekseev Lyubov Akhmedovna Sydykova Vladimir Vladimirovich Dodokhov Khariton Alekseevich Kurtanov Alexey Vasilievich Krylov The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts |
topic_facet |
Gene polymorphism NAFLD PNPLA3 liver Arctic medicine. Tropical medicine RC955-962 |
description |
ABSTRACTNonalcoholic fatty liver disease (NAFLD) is one of the most common chronic liver diseases. It has been reported that specific variants of patatin-like phospholipase domain-containing 3 (PNPLA3) gene, notably SNPs rs738409 and rs2294918 are associated with high risks of liver disease. PNPLA3 rs738409 polymorphism is the main determinant of fatty liver and affects development and progression of NAFLD. rs2294918 is another SNP localised in PNPLA3 gene, it is associated with reduced expression of the PNPLA3 protein, lowering the effect of the rs738409:G variant on predisposition to steatosis and liver damage. The frequencies of alleles, genotypes, haplotypes and diplotypes (combinations of genotypes at two loci) of polymorphic variants of the PNPLA3 gene (rs2294918 and rs738409) were studied in the cohort of Yakuts (n = 150) living in the Republic of Sakha (Yakutia). Genotyping of PNPLA3 (rs738409 and rs2294918) was performed by PCR-PDRF method. The single nucleotide polymorphism rs738409 (I148M) of the PNPLA3 gene in the Yakut population is characterised by a high frequency of the risk allele G (72%). Analysis of the distribution frequency of the rs2294918 polymorphism genotypes showed that the allele G was predominant in 89.3% of individuals of the studied group of Yakuts. In this study, we identified two major diplotypes [GG][GG] and [CG][GG]. The high frequency of the mutant rs738409: G variant in Yakuts may be an adaptation of the organism to low temperatures. The study of the adiponutringene may be an important key to understanding the mechanisms of adaptation to low temperatures and metabolic processes in the indigenous population of the North. |
format |
Article in Journal/Newspaper |
author |
Nadezhda Ivanovna Pavlova Alexey Alexeevich Bochurov Vladislav Amirovich Alekseev Lyubov Akhmedovna Sydykova Vladimir Vladimirovich Dodokhov Khariton Alekseevich Kurtanov Alexey Vasilievich Krylov |
author_facet |
Nadezhda Ivanovna Pavlova Alexey Alexeevich Bochurov Vladislav Amirovich Alekseev Lyubov Akhmedovna Sydykova Vladimir Vladimirovich Dodokhov Khariton Alekseevich Kurtanov Alexey Vasilievich Krylov |
author_sort |
Nadezhda Ivanovna Pavlova |
title |
The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts |
title_short |
The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts |
title_full |
The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts |
title_fullStr |
The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts |
title_full_unstemmed |
The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts |
title_sort |
variability of pnpla3 gene as a potential marker of cold adaptation in yakuts |
publisher |
Taylor & Francis Group |
publishDate |
2023 |
url |
https://doi.org/10.1080/22423982.2023.2246647 https://doaj.org/article/b67b6febdbf648ea9fcb58dd98455213 |
geographic |
Arctic Sakha |
geographic_facet |
Arctic Sakha |
genre |
Arctic Circumpolar Health International Journal of Circumpolar Health Republic of Sakha Yakutia Yakuts |
genre_facet |
Arctic Circumpolar Health International Journal of Circumpolar Health Republic of Sakha Yakutia Yakuts |
op_source |
International Journal of Circumpolar Health, Vol 82, Iss 1 (2023) |
op_relation |
https://www.tandfonline.com/doi/10.1080/22423982.2023.2246647 https://doaj.org/toc/2242-3982 doi:10.1080/22423982.2023.2246647 2242-3982 https://doaj.org/article/b67b6febdbf648ea9fcb58dd98455213 |
op_doi |
https://doi.org/10.1080/22423982.2023.2246647 |
container_title |
International Journal of Circumpolar Health |
container_volume |
82 |
container_issue |
1 |
_version_ |
1788694549829255168 |