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Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome

Objective: this study aimed to get the genotypic and allelic frequencies of rs1801282 in 179 volunteer donors and 154 patients with Metabolic syndrome (MetS) in Brasilia, Brazil and also examine the association with anthropometric, biochemical and hemodynamic variables in the latter group. MetS comp...

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Main Authors: Rocha, Renato Marano, Barra, Gustavo Barcelos, Rosa, Érica Carine Campos Caldas, Garcia, Érica Correa, Amato, Angélica Amorim, Azevedo, Monalisa Ferreira
Format: Artigo
Language: English
Published: Sociedade Brasileira de Endocrinologia e Metabologia 2017
Subjects:
Polimorfismo de nucleotídeo único
Síndrome metabólica
Online Access: http://repositorio.unb.br/handle/10482/29984
http://dx.doi.org/10.1590/2359-3997000000086
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spelling ir-10482-299842019-03-28T14:09:48Z Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome Rocha, Renato Marano Barra, Gustavo Barcelos Rosa, Érica Carine Campos Caldas Garcia, Érica Correa Amato, Angélica Amorim Azevedo, Monalisa Ferreira Polimorfismo de nucleotídeo único Síndrome metabólica Objective: this study aimed to get the genotypic and allelic frequencies of rs1801282 in 179 volunteer donors and 154 patients with Metabolic syndrome (MetS) in Brasilia, Brazil and also examine the association with anthropometric, biochemical and hemodynamic variables in the latter group. MetS comprises a group of diseases resulting from insulin resistance, in-creased risk of type 2 diabetes and atherosclerotic cardiovascular disease. MetS is defined by the presence of increased visceral fat, atherogenic dyslipidemia (elevated triglycerides (TGL)), with decreased high density lipoprotein (HDL) and increased low density lipoprotein (LDL) levels, hypertension (BPH) and disturbances in glucose homeostasis representing a significant burden across the world due to the alarming increase in the incidence over the last decades besides their significant morbidity and mortality. Peroxisome proliferator activated receptor-gamma (PPARg) has been mentioned as a candidate gene for determining the risk of MetS. It is a member of the nuclear receptors superfamily and a ligand-activated transcription factor, which regulates the expression of genes involved in the network lipogenesis and adipogenesis, insulin sensitivity, energy balance, inflammation, angiogenesis and atherosclerosis. Among the PPARG genetic variants, single nucleotide polymorphism rs1801282 has been the most extensively studied one since it was first described by Yen and cols. in 1997. This polymorphism is characterized by the replacement of a proline (CCC) to an alanine (GCA) at codon 12 of exon B, due to the exchange of a cytosine with a guanine. The Ala allele frequency varies in different ethnic groups. Materials and methods: DNA was extracted using Chelex-100 method and determinations of genotypes were performed by allele-specific chain reaction. Results: the distribution of genotype frequency of the MetS group was not statistically different from the frequency in the donor population at large. In the first group, genotype frequency was CC to 0.869 and 0.103 for CG, while allelic frequencies were 0.948 for C and 0.052 for G allele. In the group of donors, the genotype and allele frequencies were 0.882 for CC, 0.117 to CG; and 0.941 to 0.059 for G and C, respectively. GG genotype was not found in any of the two groups. The genotype distribution and allele frequencies were in Hardy-Weinberg equilibrium. No marker could be detected from the analysis of anthropometric, biochemical and hemodynamic variables in the MetS group. Conclusion: our data suggest that this polymorphism is not correlated with predisposition to MetS. The results obtained on a small sample of the population of Brasilia, corroborate the data reported in the literature on the prevalence of this polymorphism in PPAR in populations of different ethnic origins. 2017-12-07T05:14:15Z 2017-12-07T05:14:15Z 2015-08 Artigo ROCHA, Renato Marano et al. Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome. Archives of Endocrinology and Metabolism, São Paulo, v. 59, n. 4, p. 297-302, ago. 2015. Disponível em: <http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000400297&lng=en&nrm=iso>. Acesso em: 16 mar. 2018. doi: http://dx.doi.org/10.1590/2359-3997000000086. http://repositorio.unb.br/handle/10482/29984 http://dx.doi.org/10.1590/2359-3997000000086 en Acesso Aberto Archives of Endocrinology and Metabolism - This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY NC 4.0). Fonte: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000400297&lng=en&nrm=iso. Acesso em: 16 mar. 2018. application/pdf Sociedade Brasileira de Endocrinologia e Metabologia
institution REPOSITORIO UNB
collection REPOSITORIO UNB
language English
topic Polimorfismo de nucleotídeo único
Síndrome metabólica
spellingShingle Polimorfismo de nucleotídeo único
Síndrome metabólica
Rocha, Renato Marano
Barra, Gustavo Barcelos
Rosa, Érica Carine Campos Caldas
Garcia, Érica Correa
Amato, Angélica Amorim
Azevedo, Monalisa Ferreira
Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
description Objective: this study aimed to get the genotypic and allelic frequencies of rs1801282 in 179 volunteer donors and 154 patients with Metabolic syndrome (MetS) in Brasilia, Brazil and also examine the association with anthropometric, biochemical and hemodynamic variables in the latter group. MetS comprises a group of diseases resulting from insulin resistance, in-creased risk of type 2 diabetes and atherosclerotic cardiovascular disease. MetS is defined by the presence of increased visceral fat, atherogenic dyslipidemia (elevated triglycerides (TGL)), with decreased high density lipoprotein (HDL) and increased low density lipoprotein (LDL) levels, hypertension (BPH) and disturbances in glucose homeostasis representing a significant burden across the world due to the alarming increase in the incidence over the last decades besides their significant morbidity and mortality. Peroxisome proliferator activated receptor-gamma (PPARg) has been mentioned as a candidate gene for determining the risk of MetS. It is a member of the nuclear receptors superfamily and a ligand-activated transcription factor, which regulates the expression of genes involved in the network lipogenesis and adipogenesis, insulin sensitivity, energy balance, inflammation, angiogenesis and atherosclerosis. Among the PPARG genetic variants, single nucleotide polymorphism rs1801282 has been the most extensively studied one since it was first described by Yen and cols. in 1997. This polymorphism is characterized by the replacement of a proline (CCC) to an alanine (GCA) at codon 12 of exon B, due to the exchange of a cytosine with a guanine. The Ala allele frequency varies in different ethnic groups. Materials and methods: DNA was extracted using Chelex-100 method and determinations of genotypes were performed by allele-specific chain reaction. Results: the distribution of genotype frequency of the MetS group was not statistically different from the frequency in the donor population at large. In the first group, genotype frequency was CC to 0.869 and 0.103 for CG, while allelic frequencies were 0.948 for C and 0.052 for G allele. In the group of donors, the genotype and allele frequencies were 0.882 for CC, 0.117 to CG; and 0.941 to 0.059 for G and C, respectively. GG genotype was not found in any of the two groups. The genotype distribution and allele frequencies were in Hardy-Weinberg equilibrium. No marker could be detected from the analysis of anthropometric, biochemical and hemodynamic variables in the MetS group. Conclusion: our data suggest that this polymorphism is not correlated with predisposition to MetS. The results obtained on a small sample of the population of Brasilia, corroborate the data reported in the literature on the prevalence of this polymorphism in PPAR in populations of different ethnic origins.
format Artigo
author Rocha, Renato Marano
Barra, Gustavo Barcelos
Rosa, Érica Carine Campos Caldas
Garcia, Érica Correa
Amato, Angélica Amorim
Azevedo, Monalisa Ferreira
author_sort Rocha, Renato Marano
title Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
title_short Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
title_full Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
title_fullStr Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
title_full_unstemmed Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
title_sort prevalence of the rs1801282 single nucleotide polymorphism of the pparg gene in patients with metabolic syndrome
publisher Sociedade Brasileira de Endocrinologia e Metabologia
publishDate 2017
url http://repositorio.unb.br/handle/10482/29984
http://dx.doi.org/10.1590/2359-3997000000086
_version_ 1641988822597107712
score 13.657419

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