Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , , |
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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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 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
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 instname:Universidade de Brasília (UnB) instacron:UNB |
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Universidade de Brasília (UnB) |
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UNB |
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UNB |
reponame_str |
Repositório Institucional da UnB |
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Repositório Institucional da UnB |
repository.name.fl_str_mv |
Repositório Institucional da UnB - Universidade de Brasília (UnB) |
repository.mail.fl_str_mv |
repositorio@unb.br |
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1814508381086416896 |