Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | |
Tipo de documento: | Tese |
Idioma: | por |
Título da fonte: | Biblioteca Digital de Teses e Dissertações da UERJ |
Texto Completo: | http://www.bdtd.uerj.br/handle/1/20255 |
Resumo: | To evaluate the distribution of 8 genetic polymorphisms related to cardiovascular risk factors and their association with elevated blood pressure, obesity, and its quantitative traits in schoolchildren 10 to 15 aged. Method: subsampling of 1.054 adolescents, both sexes, belonging to ERJ II’s population. Genetic analysis of 8 SNPs (M235T (rs699) of AGT gene, c.-344T>C (rs1799998) of CYP11B2 gene, G894T (rs1799983) of NOS3 gene, intronic variant T>A (rs9939609) of FTO gene, Q223R (rs1137101) of LEPR gene, T6K (rs3746619) and V81I (rs3827103) of MC3R gene, intronic variant T>C (rs17782313) of MC4R gene) was performed through customized Minisequencing Multiplex/SNaPshot®. Allele and genotype frequencies were evaluated by χ2 test overall and stratified by sex, skin color, body mass index (BMI), waist circumference (WC), blood pressure (BP) status. Genetic variants were evaluated for correlation with continuous variables by one-way ANOVA e for associations with elevated BP and obesity through univariate and multivariate logistic regression models. Results: Prevalence of elevated BP was 13.5% and overweight/obesity was 41.4%. Mutant genotype AA of V81I MC3R showed more prevalent among black individuals (P<0.0001) and boys (P=0.013). Mutant genotype TT of M235T AGT was more prevalent among white individuals (P=0.001) and those with elevated BP (P=0.014). Mutant genotype TT of rs1799998 CYP11B2 was more prevalent among black individuals (P=0.018) and those with increased WC (P=0.021). Mutant genotype AA of T6K MC3R was more prevalent among black (P=0.001) and correlated with increased systolic BP (P=0.023). Wild-type genotype GG of G894T NOS3 was more prevalent in obese (BMI, P=0.002; WC, P=0.027), individuals with elevated BP (P=0.035), correlated with increased BMI (P=0.020) and associated with obesity in univariate (OR=0.713, P<0.001) and age- and elevated BP-adjusted multivariate logistic regression (OR=0.730, P=0.001). None of the further SNPs presented differentiated allele and genotype distribution or showed association with elevated BP, obesity, or their quantitative traits. Conclusion: Mutant allele A of rs3746619 (T6K) MC3R was correlated with increased SBP while wild-type allele G of rs1799983 (G894T) NOS3 was associated with higher BMI and increased risk for development of obesity in younger healthy Brazilian admixed adolescents with altered BP |
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Brandão, Andréa Araujohttp://lattes.cnpq.br/7003876899211140Silva, Dayse Aparecida dahttp://lattes.cnpq.br/8456206846769267Paiva, Carmen Lucia Antãohttp://lattes.cnpq.br/2025330782487908Seixas, Teresa de Souza Fernandezhttp://lattes.cnpq.br/9057578752949881Neves, Mario Fritsch Toroshttp://lattes.cnpq.br/4057939698550381Lima, Marcelo Aguiar Costahttp://lattes.cnpq.br/7864985542636759http://lattes.cnpq.br/2642052296051956Machado, Yasmin Lemos Rollemberg Cruzrollemberg_yasmin@hotmail.com2023-08-31T20:28:08Z2024-12-152021-12-15MACHADO, Yasmin Lemos Rollemberg Cruz. Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II. 2021. 157 f. Tese (Doutorado em Ciências Médicas) - Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, 2021.http://www.bdtd.uerj.br/handle/1/20255To evaluate the distribution of 8 genetic polymorphisms related to cardiovascular risk factors and their association with elevated blood pressure, obesity, and its quantitative traits in schoolchildren 10 to 15 aged. Method: subsampling of 1.054 adolescents, both sexes, belonging to ERJ II’s population. Genetic analysis of 8 SNPs (M235T (rs699) of AGT gene, c.-344T>C (rs1799998) of CYP11B2 gene, G894T (rs1799983) of NOS3 gene, intronic variant T>A (rs9939609) of FTO gene, Q223R (rs1137101) of LEPR gene, T6K (rs3746619) and V81I (rs3827103) of MC3R gene, intronic variant T>C (rs17782313) of MC4R gene) was performed through customized Minisequencing Multiplex/SNaPshot®. Allele and genotype frequencies were evaluated by χ2 test overall and stratified by sex, skin color, body mass index (BMI), waist circumference (WC), blood pressure (BP) status. Genetic variants were evaluated for correlation with continuous variables by one-way ANOVA e for associations with elevated BP and obesity through univariate and multivariate logistic regression models. Results: Prevalence of elevated BP was 13.5% and overweight/obesity was 41.4%. Mutant genotype AA of V81I MC3R showed more prevalent among black individuals (P<0.0001) and boys (P=0.013). Mutant genotype TT of M235T AGT was more prevalent among white individuals (P=0.001) and those with elevated BP (P=0.014). Mutant genotype TT of rs1799998 CYP11B2 was more prevalent among black individuals (P=0.018) and those with increased WC (P=0.021). Mutant genotype AA of T6K MC3R was more prevalent among black (P=0.001) and correlated with increased systolic BP (P=0.023). Wild-type genotype GG of G894T NOS3 was more prevalent in obese (BMI, P=0.002; WC, P=0.027), individuals with elevated BP (P=0.035), correlated with increased BMI (P=0.020) and associated with obesity in univariate (OR=0.713, P<0.001) and age- and elevated BP-adjusted multivariate logistic regression (OR=0.730, P=0.001). None of the further SNPs presented differentiated allele and genotype distribution or showed association with elevated BP, obesity, or their quantitative traits. Conclusion: Mutant allele A of rs3746619 (T6K) MC3R was correlated with increased SBP while wild-type allele G of rs1799983 (G894T) NOS3 was associated with higher BMI and increased risk for development of obesity in younger healthy Brazilian admixed adolescents with altered BPAvaliar a distribuição de 8 polimorfismos genéticos relacionados a fatores de risco cardiovascular e sua associação com à pressão arterial elevada, obesidade e suas variáveis quantitativas em escolares de 10 a 15 anos de idade. Método: Uma subamostragem constituída por 1.054 adolescentes, de ambos os sexos, pertencentes a população do ERJ II (Estudo do Rio de Janeiro II). Análise genética de 8 polimorfismos de base única (M235T (rs699) do gene AGT, c.-344T>C (rs1799998) do gene CYP11B2, G894T (rs1799983) do gene NOS3, variante intrônicaT>A (rs9939609) do gene FTO, Q223R (rs1137101) do geneLEPR, T6K (rs3746619) e V81I (rs3827103) do gene MC3R, variante intrônica T>C (rs17782313) do gene MC4R) através de Minisequenciamento Multiplex/SNaPshot® personalizado. Frequências alélicas e genotípicas foram avaliadas através do teste χ2 de forma geral e estratificadas por sexo, cor da pele, índice de massa corporal (IMC), circunferência abdominal (CAbd) e perfil de pressão arterial (PA). Variantes genéticas foram avaliadas para correlações com variáveis contínuas através de one-way ANOVA e para associações com PA elevada e obesidade através modelos de regressão logística uni e multivariada. Resultados: Prevalências de PA elevada e de sobrepeso/obesidade detectadas foram de 13,5% e 41,4%, respectivamente. Genótipo variante AA do V81I MC3R mostrou-se mais prevalente em negros (P<0.0001) e em meninos (P=0.013). Genótipo variante TT do M235T AGT esteve mais prevalente em brancos (P=0,001) e naqueles com PA elevada (P=0,014). Genótipo selvagem TT do rs1799998 CYP11B2 mais prevalente em negros (P=0,018) e com CAbd aumentada (P=0,021). Genótipo variante AA do T6K MC3R esteve mais prevalente em negros (P=0.001) e correlacionado com PA sistólica aumentada (P=0.023). Genótipo selvagem GG do G894T NOS3 esteve mais prevalente em obesos (IMC, P=0.002; CAbd, P=0.027), em indivíduos com PA elevada (P=0.035), correlacionado com IMC aumentado (P=0.020) e associado com obesidade na regressão logística univariada (OR=0.713, P<0.001) e multivariada ajustada para idade e PA elevada (OR=0.730, P=0.001). Nenhum dos demais polimorfismos apresentou diferenciada distribuição de suas frequências alélicas e genotípicas ou esteve associado com PA elevada, obesidade ou variação em seus traços quantitativos. Conclusão: O alelo selvagem G do rs1799983 (G894T) do NOS3 esteve correlacionado com valores aumentados de IMC e risco aumentado para o desenvolvimento de obesidade em adolescentes brasileiros saudáveis mais jovens e com PA alteradaSubmitted by Felipe CB/A (felipebibliotecario@gmail.com) on 2023-08-31T20:28:08Z No. of bitstreams: 2 Tese - Yasmin Lemos Rollemberg Cruz Machado - Completa - 2021.pdf: 2803997 bytes, checksum: 31389a0cfae1f304934f787827bfb448 (MD5) Tese - Yasmin Lemos Rollemberg Cruz Machado - Parcial - 2021.pdf: 3929988 bytes, checksum: d4fe7e08685564850bb050e3aa4d8ac6 (MD5)Made available in DSpace on 2023-08-31T20:28:08Z (GMT). No. of bitstreams: 2 Tese - Yasmin Lemos Rollemberg Cruz Machado - Completa - 2021.pdf: 2803997 bytes, checksum: 31389a0cfae1f304934f787827bfb448 (MD5) Tese - Yasmin Lemos Rollemberg Cruz Machado - Parcial - 2021.pdf: 3929988 bytes, checksum: d4fe7e08685564850bb050e3aa4d8ac6 (MD5) Previous issue date: 2021-12-15Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPESapplication/pdfporUniversidade do Estado do Rio de JaneiroPrograma de Pós-Graduação em Ciências MédicasUERJBrasilCentro Biomédico::Faculdade de Ciências MédicasAdmixed Brazilian adolescentsGenetic PolymorphismsMultiplex SNaPshot®G894TNOS3rs1799983GenotypingChildhood obesityGenetic association studyAdolescentes brasileiros miscigenadosPolimorfismos genéticosMultiplex SNaPshot®G894TNOS3rs1799983GenotipagemObesidade infantilEstudo de associação genéticaSistema cardiovascularTécnicas de GenotipagemFatores de Risco de Doenças CardíacasCIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICAAvaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro IIEvaluation of genetic polymorphisms associated to cardiovascular risk factors in a populational sample of schoolchildren 10 to 15 aged: Rio de Janeiro Study IIinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/doctoralThesisinfo:eu-repo/semantics/embargoedAccessreponame:Biblioteca Digital de Teses e Dissertações da UERJinstname:Universidade do Estado do Rio de Janeiro (UERJ)instacron:UERJORIGINALTese - Yasmin Lemos Rollemberg Cruz Machado - Completa - 2021.pdfTese - Yasmin Lemos Rollemberg Cruz Machado - Completa - 2021.pdfapplication/pdf2803997http://www.bdtd.uerj.br/bitstream/1/20255/2/Tese+-+Yasmin+Lemos+Rollemberg+Cruz+Machado+-+Completa+-+2021.pdf31389a0cfae1f304934f787827bfb448MD52Tese - Yasmin Lemos Rollemberg Cruz Machado - Parcial - 2021.pdfTese - Yasmin Lemos Rollemberg Cruz Machado - Parcial - 2021.pdfapplication/pdf3929988http://www.bdtd.uerj.br/bitstream/1/20255/3/Tese+-+Yasmin+Lemos+Rollemberg+Cruz+Machado+-+Parcial+-+2021.pdfd4fe7e08685564850bb050e3aa4d8ac6MD53LICENSElicense.txtlicense.txttext/plain; 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dc.title.por.fl_str_mv |
Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II |
dc.title.alternative.eng.fl_str_mv |
Evaluation of genetic polymorphisms associated to cardiovascular risk factors in a populational sample of schoolchildren 10 to 15 aged: Rio de Janeiro Study II |
title |
Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II |
spellingShingle |
Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II Machado, Yasmin Lemos Rollemberg Cruz Admixed Brazilian adolescents Genetic Polymorphisms Multiplex SNaPshot® G894T NOS3 rs1799983 Genotyping Childhood obesity Genetic association study Adolescentes brasileiros miscigenados Polimorfismos genéticos Multiplex SNaPshot® G894T NOS3 rs1799983 Genotipagem Obesidade infantil Estudo de associação genética Sistema cardiovascular Técnicas de Genotipagem Fatores de Risco de Doenças Cardíacas CIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICA |
title_short |
Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II |
title_full |
Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II |
title_fullStr |
Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II |
title_full_unstemmed |
Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II |
title_sort |
Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II |
author |
Machado, Yasmin Lemos Rollemberg Cruz |
author_facet |
Machado, Yasmin Lemos Rollemberg Cruz rollemberg_yasmin@hotmail.com |
author_role |
author |
author2 |
rollemberg_yasmin@hotmail.com |
author2_role |
author |
dc.contributor.advisor1.fl_str_mv |
Brandão, Andréa Araujo |
dc.contributor.advisor1Lattes.fl_str_mv |
http://lattes.cnpq.br/7003876899211140 |
dc.contributor.advisor-co1.fl_str_mv |
Silva, Dayse Aparecida da |
dc.contributor.advisor-co1Lattes.fl_str_mv |
http://lattes.cnpq.br/8456206846769267 |
dc.contributor.referee1.fl_str_mv |
Paiva, Carmen Lucia Antão |
dc.contributor.referee1Lattes.fl_str_mv |
http://lattes.cnpq.br/2025330782487908 |
dc.contributor.referee2.fl_str_mv |
Seixas, Teresa de Souza Fernandez |
dc.contributor.referee2Lattes.fl_str_mv |
http://lattes.cnpq.br/9057578752949881 |
dc.contributor.referee3.fl_str_mv |
Neves, Mario Fritsch Toros |
dc.contributor.referee3Lattes.fl_str_mv |
http://lattes.cnpq.br/4057939698550381 |
dc.contributor.referee4.fl_str_mv |
Lima, Marcelo Aguiar Costa |
dc.contributor.referee4Lattes.fl_str_mv |
http://lattes.cnpq.br/7864985542636759 |
dc.contributor.authorLattes.fl_str_mv |
http://lattes.cnpq.br/2642052296051956 |
dc.contributor.author.fl_str_mv |
Machado, Yasmin Lemos Rollemberg Cruz rollemberg_yasmin@hotmail.com |
contributor_str_mv |
Brandão, Andréa Araujo Silva, Dayse Aparecida da Paiva, Carmen Lucia Antão Seixas, Teresa de Souza Fernandez Neves, Mario Fritsch Toros Lima, Marcelo Aguiar Costa |
dc.subject.eng.fl_str_mv |
Admixed Brazilian adolescents Genetic Polymorphisms Multiplex SNaPshot® G894T NOS3 rs1799983 Genotyping Childhood obesity Genetic association study |
topic |
Admixed Brazilian adolescents Genetic Polymorphisms Multiplex SNaPshot® G894T NOS3 rs1799983 Genotyping Childhood obesity Genetic association study Adolescentes brasileiros miscigenados Polimorfismos genéticos Multiplex SNaPshot® G894T NOS3 rs1799983 Genotipagem Obesidade infantil Estudo de associação genética Sistema cardiovascular Técnicas de Genotipagem Fatores de Risco de Doenças Cardíacas CIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICA |
dc.subject.por.fl_str_mv |
Adolescentes brasileiros miscigenados Polimorfismos genéticos Multiplex SNaPshot® G894T NOS3 rs1799983 Genotipagem Obesidade infantil Estudo de associação genética Sistema cardiovascular Técnicas de Genotipagem Fatores de Risco de Doenças Cardíacas |
dc.subject.cnpq.fl_str_mv |
CIENCIAS BIOLOGICAS::GENETICA::GENETICA HUMANA E MEDICA |
description |
To evaluate the distribution of 8 genetic polymorphisms related to cardiovascular risk factors and their association with elevated blood pressure, obesity, and its quantitative traits in schoolchildren 10 to 15 aged. Method: subsampling of 1.054 adolescents, both sexes, belonging to ERJ II’s population. Genetic analysis of 8 SNPs (M235T (rs699) of AGT gene, c.-344T>C (rs1799998) of CYP11B2 gene, G894T (rs1799983) of NOS3 gene, intronic variant T>A (rs9939609) of FTO gene, Q223R (rs1137101) of LEPR gene, T6K (rs3746619) and V81I (rs3827103) of MC3R gene, intronic variant T>C (rs17782313) of MC4R gene) was performed through customized Minisequencing Multiplex/SNaPshot®. Allele and genotype frequencies were evaluated by χ2 test overall and stratified by sex, skin color, body mass index (BMI), waist circumference (WC), blood pressure (BP) status. Genetic variants were evaluated for correlation with continuous variables by one-way ANOVA e for associations with elevated BP and obesity through univariate and multivariate logistic regression models. Results: Prevalence of elevated BP was 13.5% and overweight/obesity was 41.4%. Mutant genotype AA of V81I MC3R showed more prevalent among black individuals (P<0.0001) and boys (P=0.013). Mutant genotype TT of M235T AGT was more prevalent among white individuals (P=0.001) and those with elevated BP (P=0.014). Mutant genotype TT of rs1799998 CYP11B2 was more prevalent among black individuals (P=0.018) and those with increased WC (P=0.021). Mutant genotype AA of T6K MC3R was more prevalent among black (P=0.001) and correlated with increased systolic BP (P=0.023). Wild-type genotype GG of G894T NOS3 was more prevalent in obese (BMI, P=0.002; WC, P=0.027), individuals with elevated BP (P=0.035), correlated with increased BMI (P=0.020) and associated with obesity in univariate (OR=0.713, P<0.001) and age- and elevated BP-adjusted multivariate logistic regression (OR=0.730, P=0.001). None of the further SNPs presented differentiated allele and genotype distribution or showed association with elevated BP, obesity, or their quantitative traits. Conclusion: Mutant allele A of rs3746619 (T6K) MC3R was correlated with increased SBP while wild-type allele G of rs1799983 (G894T) NOS3 was associated with higher BMI and increased risk for development of obesity in younger healthy Brazilian admixed adolescents with altered BP |
publishDate |
2021 |
dc.date.issued.fl_str_mv |
2021-12-15 |
dc.date.accessioned.fl_str_mv |
2023-08-31T20:28:08Z |
dc.date.available.fl_str_mv |
2024-12-15 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/doctoralThesis |
format |
doctoralThesis |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
MACHADO, Yasmin Lemos Rollemberg Cruz. Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II. 2021. 157 f. Tese (Doutorado em Ciências Médicas) - Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, 2021. |
dc.identifier.uri.fl_str_mv |
http://www.bdtd.uerj.br/handle/1/20255 |
identifier_str_mv |
MACHADO, Yasmin Lemos Rollemberg Cruz. Avaliação da distribuição de polimorfismos genéticos associados a fatores de risco cardiovascular em uma amostra populacional de escolares de 10 a 15 anos: estudo do Rio de Janeiro II. 2021. 157 f. Tese (Doutorado em Ciências Médicas) - Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, 2021. |
url |
http://www.bdtd.uerj.br/handle/1/20255 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/embargoedAccess |
eu_rights_str_mv |
embargoedAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade do Estado do Rio de Janeiro |
dc.publisher.program.fl_str_mv |
Programa de Pós-Graduação em Ciências Médicas |
dc.publisher.initials.fl_str_mv |
UERJ |
dc.publisher.country.fl_str_mv |
Brasil |
dc.publisher.department.fl_str_mv |
Centro Biomédico::Faculdade de Ciências Médicas |
publisher.none.fl_str_mv |
Universidade do Estado do Rio de Janeiro |
dc.source.none.fl_str_mv |
reponame:Biblioteca Digital de Teses e Dissertações da UERJ instname:Universidade do Estado do Rio de Janeiro (UERJ) instacron:UERJ |
instname_str |
Universidade do Estado do Rio de Janeiro (UERJ) |
instacron_str |
UERJ |
institution |
UERJ |
reponame_str |
Biblioteca Digital de Teses e Dissertações da UERJ |
collection |
Biblioteca Digital de Teses e Dissertações da UERJ |
bitstream.url.fl_str_mv |
http://www.bdtd.uerj.br/bitstream/1/20255/2/Tese+-+Yasmin+Lemos+Rollemberg+Cruz+Machado+-+Completa+-+2021.pdf http://www.bdtd.uerj.br/bitstream/1/20255/3/Tese+-+Yasmin+Lemos+Rollemberg+Cruz+Machado+-+Parcial+-+2021.pdf http://www.bdtd.uerj.br/bitstream/1/20255/1/license.txt |
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MD5 MD5 MD5 |
repository.name.fl_str_mv |
Biblioteca Digital de Teses e Dissertações da UERJ - Universidade do Estado do Rio de Janeiro (UERJ) |
repository.mail.fl_str_mv |
bdtd.suporte@uerj.br |
_version_ |
1811728738573877248 |