Polymorphism of the adiponutrin gene (PNPLA3) in the indigenous inhabitants of the Republic of Sakha (Yakutia) with type 2 diabetes mellitus

Kurtanov, Kh.A.; A., Sydykova L.; Pavlova, Nadezhda; Filippova, N.P.; Dodokhov, V.V.; Apsolikhova, G.A.; Solov'eva, N. A.; Dyakonova, A.T.; Neustroeva, L.M.; Borisova, N. V.

doi:10.18786/2072-0505-2018-46-3-258-263

Cited by 5 publications

(4 citation statements)

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“…RFLP products were detected by horizontal electrophoresis in 4% agarose gel stained with ethidium bromide using a standard Tris-acetate buffer at 120V for 1 hour. (15) The study was approved by the Ethics Committee of the Yakut Science Center of Complex Medical Problems (YSC CMP). Written informed consent was obtained from each research participant (or the participant's parent/guardian).…”

Section: Methodsmentioning

confidence: 99%

“…(14) We previously found a high frequency of the PNPLA3 (rs738409) [G] allele in the Yakut population (73%). (15) The accumulation of triglycerides in hepatocytes, associated with the PNPLA3 p.I148M variant, was probably an adaptation to a cold climate; this accumulation is not needed in the modern world, but leads to NAFLD among the Yakut population.…”

Section: Introductionmentioning

confidence: 99%

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The structure of Haplotypes and Diplotypes in the PNPLA3 gene in the Yakut Population

Kurtanov¹,

Павлова²,

Diakonova³

et al. 2020

IJBM

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Background: The first GWAS searching for such genetic factors identified the PNPLA3 gene as a major genetic determinant for the predisposition to nonalcoholic fatty liver disease in Hispanic, African American, and European American populations, according to liver fat contents, a finding that was subsequently confirmed by liver biopsy in Europeans and Asians. The aim of our research was to study the distribution of alleles, genotypes, haplotypes and diplotypes of polymorphic variants of the PNPLA3 gene (rs2294918 and rs738409) in Yakuts. Methods and Results: The PNPLA3 SNPs (rs2294918 and rs738409) were analyzed by PCR-RFLP reaction. The PNPLA3 rs738409 SNP in the Yakut population is characterized by a high frequency of the risk G allele (72%). According to the PNPLA3 rs2294918 SNP, which suppresses the negative effect of rs738409, the protective PNPLA3 (rs2294918) A allele was found only in 10.7% of study subjects. Analysis of the distribution of the frequency of genotypes in the studied sample of Yakuts showed the predominance of the carriage of the PNPLA3 rs738409 GG genotype (57.3%) and the PNPLA3 rs2294918 GG genotype (80.7%). The frequency of the PNPLA3 (rs2294918) AA and AG genotypes was 2.0% and 17.3%, respectively. The Yakuts often have two diplotypes [GG]-[GG] and [CG]-[GG]. Both diplotypes carry the PNPLA3 rs738409 G allele (45.3% and 28%) and do not carry the PNPLA3 rs2294918 A allele. The high frequency of the [GG]-[GG] and [CG]-[GG] diplotypes in Yakuts (45.3% and 25%, respectively), carrying mutant alleles G (rs738409) and not carrying the A allele (rs2294918), indicates that these diplotypes were probably adaptively favorable to the Yakuts. Conclusion: The analysis of haplotypes and diplotypes based on the markers rs738409 and rs2294918 of the PNPLA3 gene may contribute to future new biomarkers for the diagnosis of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis, as well as provide fundamental knowledge on human adaptation to cold.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The structure of Haplotypes and Diplotypes in the PNPLA3 gene in the Yakut Population

Kurtanov¹,

Павлова²,

Diakonova³

et al. 2020

IJBM

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“…У больных с НАЖБП уровни LBP и эндотоксина коррелировали со степенью долькового воспаления и фиброза, также с фрагментами цитокератина-18 и уровнем жесткости печени. Предполагается, что в отдельных регионах РФ выявленные мутации имеют определенное значение для отечественной популяции [30][31][32][33].…”

Section: этиология и патогенезunclassified

Non-alcoholic fatty liver disease in adults: clinic, diagnostics, treatment. Guidelines for therapists, third version

Лазебник

Голованова

Туркина

et al. 2021

jour

101

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“…We have previously found a high frequency of the G allele (rs738409) of the PNPLA3 gene in the Yakut population (73%) [ 6 ]. The aforementioned adaptation mechanisms to cold, such as the accumulation of fat in the liver, probably left their mark on the Yakut gene pool, in particular, in the genes that influence metabolism.…”

Section: Introductionmentioning

confidence: 99%

The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts

Bochurov

Alekseev

et al. 2023

International Journal of Circumpolar Health

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Nonalcoholic 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.

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Polymorphism of the adiponutrin gene (PNPLA3) in the indigenous inhabitants of the Republic of Sakha (Yakutia) with type 2 diabetes mellitus

Cited by 5 publications

References 10 publications

The structure of Haplotypes and Diplotypes in the PNPLA3 gene in the Yakut Population

The structure of Haplotypes and Diplotypes in the PNPLA3 gene in the Yakut Population

Non-alcoholic fatty liver disease in adults: clinic, diagnostics, treatment. Guidelines for therapists, third version

The variability of PNPLA3 gene as a potential marker of cold adaptation in Yakuts

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