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

Detalhes bibliográficos
Autor(a) principal: Machado, Yasmin Lemos Rollemberg Cruz
Data de Publicação: 2021
Outros Autores: rollemberg_yasmin@hotmail.com
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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spelling 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
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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
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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
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reponame_str Biblioteca Digital de Teses e Dissertações da UERJ
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http://www.bdtd.uerj.br/bitstream/1/20255/3/Tese+-+Yasmin+Lemos+Rollemberg+Cruz+Machado+-+Parcial+-+2021.pdf
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