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: Machado, Yasmin Lemos Rollemberg Cruz
• Data de Publicação: 2021
• Outros Autores: [e-mail]
• 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
• 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

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