Correlations between PNPLA3 Gene Polymorphisms and NAFLD in Type 2 Diabetic Patients

<i>Background and Objectives</i>: Non-alcoholic fatty liver disease is a worldwide significant public health problem, particularly in patients with type 2 diabetes mellitus. Identifying possible risk factors for the disease is mandatory for a better understandingand management of this co...

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Autores principales: Oana Irina Gavril, Lidia Iuliana Arhire, Radu Sebastian Gavril, Madalina Ioana Zota, Andreea Gherasim, Otilia Nita, Andrei Drugescu, Andrei Catalin Oprescu, Irina Mihaela Esanu, Florin Mitu, Mariana Graur, Laura Mihalache
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Publicado: MDPI AG 2021
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spelling oai:doaj.org-article:023697136e014afc847d9eacb007c0b62021-11-25T18:18:56ZCorrelations between PNPLA3 Gene Polymorphisms and NAFLD in Type 2 Diabetic Patients10.3390/medicina571112491648-91441010-660Xhttps://doaj.org/article/023697136e014afc847d9eacb007c0b62021-11-01T00:00:00Zhttps://www.mdpi.com/1648-9144/57/11/1249https://doaj.org/toc/1010-660Xhttps://doaj.org/toc/1648-9144<i>Background and Objectives</i>: Non-alcoholic fatty liver disease is a worldwide significant public health problem, particularly in patients with type 2 diabetes mellitus. Identifying possible risk factors for the disease is mandatory for a better understandingand management of this condition. Patatin-like phospholipase domain-containing protein 3 (PNPLA3) has been linked to the development and evolution of fatty liver but not to insulin resistance. The aim of this study isto evaluate the relationships between PNPLA3 and fatty liver, metabolic syndrome and subclinical atherosclerosis. <i>Materials and Methods</i>: The study group consisted of patients with type 2 diabetes mellitus without insulin treatment. The degree of liver fat loading was assessed by ultrasonography, and subclinical atherosclerosis was assessed using carotid intima-media thickness (CIMT). PNPLA3 rs738409 genotype determination was performed by high-resolution melting analysis that allowed three standard genotypes: CC, CG, and GG. <i>Results</i>: Among the 92 patients, more than 90% showed various degrees of hepatic steatosis, almost 62% presented values over the normal limit for the CIMT. The majority of the included subjects met the criteria for metabolic syndrome. Genotyping of PNPLA3 in 68 patients showed that the difference between subjects without steatosis and subjects with hepatic steatosis was due to the higher frequency of genotype GG. The CC genotype was the most common in the group we studied and was significantly more frequent in the group of subjects with severe steatosis; the GG genotype was significantly more frequent in subjects with moderate steatosis; the frequency of the CG genotype was not significantly different among the groups.When we divided the group of subjects into two groups: those with no or mild steatosis and those with moderate or severe steatosis it was shown that the frequency of the GG genotype was significantly higher in the group of subjects with moderate or severe steatosis. PNPLA3 genotypes were not associated with metabolic syndrome, subclinical atherosclerosis, or insulin resistance. <i>Conclusions</i>: Our results suggest that PNPLA3 does not independently influence cardiovascular risk in patients with type 2 diabetes mellitus. The hypothesis that PNPLA3 may have a cardioprotective effect requires future confirmation.Oana Irina GavrilLidia Iuliana ArhireRadu Sebastian GavrilMadalina Ioana ZotaAndreea GherasimOtilia NitaAndrei DrugescuAndrei Catalin OprescuIrina Mihaela EsanuFlorin MituMariana GraurLaura MihalacheMDPI AGarticlehepatic steatosisPNPLA3insulin resistancediabetes mellituscardiovascular riskMedicine (General)R5-920ENMedicina, Vol 57, Iss 1249, p 1249 (2021)
institution DOAJ
collection DOAJ
language EN
topic hepatic steatosis
PNPLA3
insulin resistance
diabetes mellitus
cardiovascular risk
Medicine (General)
R5-920
spellingShingle hepatic steatosis
PNPLA3
insulin resistance
diabetes mellitus
cardiovascular risk
Medicine (General)
R5-920
Oana Irina Gavril
Lidia Iuliana Arhire
Radu Sebastian Gavril
Madalina Ioana Zota
Andreea Gherasim
Otilia Nita
Andrei Drugescu
Andrei Catalin Oprescu
Irina Mihaela Esanu
Florin Mitu
Mariana Graur
Laura Mihalache
Correlations between PNPLA3 Gene Polymorphisms and NAFLD in Type 2 Diabetic Patients
description <i>Background and Objectives</i>: Non-alcoholic fatty liver disease is a worldwide significant public health problem, particularly in patients with type 2 diabetes mellitus. Identifying possible risk factors for the disease is mandatory for a better understandingand management of this condition. Patatin-like phospholipase domain-containing protein 3 (PNPLA3) has been linked to the development and evolution of fatty liver but not to insulin resistance. The aim of this study isto evaluate the relationships between PNPLA3 and fatty liver, metabolic syndrome and subclinical atherosclerosis. <i>Materials and Methods</i>: The study group consisted of patients with type 2 diabetes mellitus without insulin treatment. The degree of liver fat loading was assessed by ultrasonography, and subclinical atherosclerosis was assessed using carotid intima-media thickness (CIMT). PNPLA3 rs738409 genotype determination was performed by high-resolution melting analysis that allowed three standard genotypes: CC, CG, and GG. <i>Results</i>: Among the 92 patients, more than 90% showed various degrees of hepatic steatosis, almost 62% presented values over the normal limit for the CIMT. The majority of the included subjects met the criteria for metabolic syndrome. Genotyping of PNPLA3 in 68 patients showed that the difference between subjects without steatosis and subjects with hepatic steatosis was due to the higher frequency of genotype GG. The CC genotype was the most common in the group we studied and was significantly more frequent in the group of subjects with severe steatosis; the GG genotype was significantly more frequent in subjects with moderate steatosis; the frequency of the CG genotype was not significantly different among the groups.When we divided the group of subjects into two groups: those with no or mild steatosis and those with moderate or severe steatosis it was shown that the frequency of the GG genotype was significantly higher in the group of subjects with moderate or severe steatosis. PNPLA3 genotypes were not associated with metabolic syndrome, subclinical atherosclerosis, or insulin resistance. <i>Conclusions</i>: Our results suggest that PNPLA3 does not independently influence cardiovascular risk in patients with type 2 diabetes mellitus. The hypothesis that PNPLA3 may have a cardioprotective effect requires future confirmation.
format article
author Oana Irina Gavril
Lidia Iuliana Arhire
Radu Sebastian Gavril
Madalina Ioana Zota
Andreea Gherasim
Otilia Nita
Andrei Drugescu
Andrei Catalin Oprescu
Irina Mihaela Esanu
Florin Mitu
Mariana Graur
Laura Mihalache
author_facet Oana Irina Gavril
Lidia Iuliana Arhire
Radu Sebastian Gavril
Madalina Ioana Zota
Andreea Gherasim
Otilia Nita
Andrei Drugescu
Andrei Catalin Oprescu
Irina Mihaela Esanu
Florin Mitu
Mariana Graur
Laura Mihalache
author_sort Oana Irina Gavril
title Correlations between PNPLA3 Gene Polymorphisms and NAFLD in Type 2 Diabetic Patients
title_short Correlations between PNPLA3 Gene Polymorphisms and NAFLD in Type 2 Diabetic Patients
title_full Correlations between PNPLA3 Gene Polymorphisms and NAFLD in Type 2 Diabetic Patients
title_fullStr Correlations between PNPLA3 Gene Polymorphisms and NAFLD in Type 2 Diabetic Patients
title_full_unstemmed Correlations between PNPLA3 Gene Polymorphisms and NAFLD in Type 2 Diabetic Patients
title_sort correlations between pnpla3 gene polymorphisms and nafld in type 2 diabetic patients
publisher MDPI AG
publishDate 2021
url https://doaj.org/article/023697136e014afc847d9eacb007c0b6
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