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

Detalhes bibliográficos
Autor(a) principal: Rocha, Renato Marano
Data de Publicação: 2015
Outros Autores: Barra, Gustavo Barcelos, Rosa, Érica Carine Campos Caldas, Garcia, Érica Correa, Amato, Angélica Amorim, Azevedo, Monalisa Ferreira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UnB
Texto Completo: http://repositorio.unb.br/handle/10482/29984
http://dx.doi.org/10.1590/2359-3997000000086
Resumo: 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.
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spelling Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndromePolimorfismo (Genética)Síndrome metabólicaObjective: 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.Faculdade de Medicina (FMD)Sociedade Brasileira de Endocrinologia e Metabologia2017-12-07T05:14:15Z2017-12-07T05:14:15Z2015-08info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfROCHA, 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/10482/29984http://dx.doi.org/10.1590/2359-3997000000086Archives 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.info:eu-repo/semantics/openAccessRocha, Renato MaranoBarra, Gustavo BarcelosRosa, Érica Carine Campos CaldasGarcia, Érica CorreaAmato, Angélica AmorimAzevedo, Monalisa Ferreiraengreponame:Repositório Institucional da UnBinstname:Universidade de Brasília (UnB)instacron:UNB2023-08-25T18:46:21Zoai:repositorio.unb.br:10482/29984Repositório InstitucionalPUBhttps://repositorio.unb.br/oai/requestrepositorio@unb.bropendoar:2023-08-25T18:46:21Repositório Institucional da UnB - Universidade de Brasília (UnB)false
dc.title.none.fl_str_mv Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
title Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
spellingShingle Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
Rocha, Renato Marano
Polimorfismo (Genética)
Síndrome metabólica
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
author Rocha, Renato Marano
author_facet Rocha, Renato Marano
Barra, Gustavo Barcelos
Rosa, Érica Carine Campos Caldas
Garcia, Érica Correa
Amato, Angélica Amorim
Azevedo, Monalisa Ferreira
author_role author
author2 Barra, Gustavo Barcelos
Rosa, Érica Carine Campos Caldas
Garcia, Érica Correa
Amato, Angélica Amorim
Azevedo, Monalisa Ferreira
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Rocha, Renato Marano
Barra, Gustavo Barcelos
Rosa, Érica Carine Campos Caldas
Garcia, Érica Correa
Amato, Angélica Amorim
Azevedo, Monalisa Ferreira
dc.subject.por.fl_str_mv Polimorfismo (Genética)
Síndrome metabólica
topic Polimorfismo (Genética)
Síndrome metabólica
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.
publishDate 2015
dc.date.none.fl_str_mv 2015-08
2017-12-07T05:14:15Z
2017-12-07T05:14:15Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv 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
identifier_str_mv 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.
url http://repositorio.unb.br/handle/10482/29984
http://dx.doi.org/10.1590/2359-3997000000086
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
publisher.none.fl_str_mv Sociedade Brasileira de Endocrinologia e Metabologia
dc.source.none.fl_str_mv reponame:Repositório Institucional da UnB
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instname_str Universidade de Brasília (UnB)
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reponame_str Repositório Institucional da UnB
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