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 compr...
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Brazilian Society of Endocrinology and Metabolism
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| Series: | Archives of Endocrinology and Metabolism |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000400297&lng=en&tlng=en |
| _version_ | 1828391970824781824 |
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| author | Renato Marano Rocha Gustavo Barcelos Barra Érica Carine Campos Caldas Rosa Érica Correa Garcia Angélica Amorim Amato Monalisa Ferreira Azevedo |
| author_facet | Renato Marano Rocha Gustavo Barcelos Barra Érica Carine Campos Caldas Rosa Érica Correa Garcia Angélica Amorim Amato Monalisa Ferreira Azevedo |
| author_sort | Renato Marano Rocha |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-10T07:11:56Z |
| format | Article |
| id | doaj.art-2fa5c45452cb424bb35ac79035ddfc5c |
| institution | Directory Open Access Journal |
| issn | 2359-4292 |
| language | English |
| last_indexed | 2024-12-10T07:11:56Z |
| publisher | Brazilian Society of Endocrinology and Metabolism |
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| series | Archives of Endocrinology and Metabolism |
| spelling | doaj.art-2fa5c45452cb424bb35ac79035ddfc5c2022-12-22T01:58:02ZengBrazilian Society of Endocrinology and MetabolismArchives of Endocrinology and Metabolism2359-429259429730210.1590/2359-3997000000086S2359-39972015000400297Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndromeRenato Marano RochaGustavo Barcelos BarraÉrica Carine Campos Caldas RosaÉrica Correa GarciaAngélica Amorim AmatoMonalisa Ferreira AzevedoObjective 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000400297&lng=en&tlng=enSingle nucleotide polymorphismmetabolic syndromers1801282 |
| spellingShingle | Renato Marano Rocha Gustavo Barcelos Barra Érica Carine Campos Caldas Rosa Érica Correa Garcia Angélica Amorim Amato Monalisa Ferreira Azevedo Prevalence of the rs1801282 single nucleotide polymorphism of the PPARG gene in patients with metabolic syndrome Archives of Endocrinology and Metabolism Single nucleotide polymorphism metabolic syndrome rs1801282 |
| title | 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_short | 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 |
| topic | Single nucleotide polymorphism metabolic syndrome rs1801282 |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000400297&lng=en&tlng=en |
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