Ancestralidade como fator de risco para hipotireoidismo: estudo da coorte ELSA-BRASIL

MARTINS, DIANA VIEGAS

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dc.creator	MARTINS, DIANA VIEGAS
dc.date.accessioned	2025-08-01T14:02:29Z
dc.date.available	2025-08-01T14:02:29Z
dc.date.issued	2025-02-17
dc.identifier.citation	Martins, Diana Viegas Ancestralidade como fator de risco para hipotireoidismo: estudo da coorte ELSA-BRASIL / [Manuscrito]. Diana Viegas Martins. Salvador, 2024. 63 f.: il.	pt_BR
dc.identifier.uri	https://repositorio.ufba.br/handle/ri/42653
dc.description.abstract	Introduction– Genomic ancestry refers to the genetic relationship between an individual and their ancestors, from whom they biologically descend. The self-reported ancestry of the Brazilian population is subject to important genomic divergence and there are sensitive markers capable of stratifying the three main Brazilian ancestral roots. The prevalence of hypothyroidism in Brazil is approximately 7.4% and has been highlighted as possibly one of the highest in the world. The ELSA-Brazil-thyroid study showed that women self-reported as white have a higher frequency of hypothyroidism than brown and black women. Objective – To determine genomic ancestry as a risk factor for hypothyroidism. Material and methods – 9372 participants (53.8% women; average age 51 years) from the ELSA-Brazil study cohort were included. Purified DNA was obtained from participants' peripheral blood using the QIAamp DNA Mini-kit1. Samples were genotyped using a panel of 192 ancestry-informative markers. Genomic ancestry analysis was conducted using the ADMIXTURE program. Results – The prevalence of subclinical hypothyroidism (SCH) and clinical hypothyroidism (CH) was found to be 9% and 7.1%, respectively; Female sex increased the risk of CH by 4.43 and 4.68, respectively, in univariate and multivariate logistic regression analyses. Regarding predominant genomic ancestry, genotyping divided individuals into 69.9% with European predominance (EUR), 13% African (AFR), 4.6% native and 12.5% with multiancestry genotype. The EUR subgroup had the highest prevalence of CH (7.9%), demonstrating that EUR ancestry is associated with a higher risk of CH while African genomic ancestry (AFR) and multiancestry played a protective role. On the other hand, the predominant AFR genomic ancestry had the highest percentage of hyperthyroidism (1.7%). Obesity increased the risk of CH and the percentage of hypertension, diabetes mellitus and obesity were significantly higher in the predominant AFR genomic ancestry subgroup. TSH demonstrated a directly proportional relationship with EUR ancestry (p < 0.01) and inversely proportional relationship with AFR (p < 0.01), as well as with free T4 (p < 0.01). Conclusion – Our results demonstrate the important influence of ancestry on thyroid diseases and associated diseases.	pt_BR
dc.language	por	pt_BR
dc.publisher	Universidade Federal da Bahia	pt_BR
dc.rights	Acesso Aberto	pt_BR
dc.subject	Glândula Tireoide	pt_BR
dc.subject	Hipotireoidismo	pt_BR
dc.subject	Hyperthyroidism	pt_BR
dc.subject	Ancestralidade	pt_BR
dc.subject	Estudo ELSA-Brasil	pt_BR
dc.subject.other	Thyroid Gland	pt_BR
dc.subject.other	Hypothyroidism	pt_BR
dc.subject.other	hyperthyroidism	pt_BR
dc.subject.other	ancestry	pt_BR
dc.subject.other	Elsa-Brazil study	pt_BR
dc.title	Ancestralidade como fator de risco para hipotireoidismo: estudo da coorte ELSA-BRASIL	pt_BR
dc.title.alternative	Genomic ancestry as a risk factor for hypothyroidism: ELSA-Brazil cohort study	pt_BR
dc.type	Dissertação	pt_BR
dc.publisher.program	Programa de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas (PPGORGSISTEM)	pt_BR
dc.publisher.initials	UFBA	pt_BR
dc.publisher.country	Brasil	pt_BR
dc.subject.cnpq	CNPQ::CIENCIAS DA SAUDE	pt_BR
dc.contributor.advisor1	Ramos, Helton Estrela
dc.contributor.advisor1ID	https://orcid.org/0000-0002-2900-2099	pt_BR
dc.contributor.advisor1Lattes	http://lattes.cnpq.br/5624505454133902	pt_BR
dc.contributor.advisor-co1	Beltrão, Fabyan Esberard de Lima
dc.contributor.advisor-co1ID	https://orcid.org/0000-0001-9713-2584	pt_BR
dc.contributor.advisor-co1Lattes	http://lattes.cnpq.br/5497252471759346	pt_BR
dc.contributor.referee1	Toralles, Maria Betânia Pereira Toralles
dc.contributor.referee1ID	https://orcid.org/0000-0001-7970-7102	pt_BR
dc.contributor.referee1Lattes	http://lattes.cnpq.br/7880272950478674	pt_BR
dc.contributor.referee2	Ward, Laura Sterian
dc.contributor.referee2ID	https://orcid.org/0000-0003-1601-3220	pt_BR
dc.contributor.referee2Lattes	http://lattes.cnpq.br/5673229011742456	pt_BR
dc.contributor.referee3	Ramos, Helton Estrela
dc.contributor.referee3ID	https://orcid.org/0000-0002-2900-2099	pt_BR
dc.contributor.referee3Lattes	http://lattes.cnpq.br/5624505454133902	pt_BR
dc.creator.ID	0000-0002-2111-2664	pt_BR
dc.creator.Lattes	http://lattes.cnpq.br/9777958938529880	pt_BR
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dc.description.resumo	Introdução – A expressão ancestralidade genômica se refere à relação genética entre um indivíduo e seus ancestrais, dos quais descende biologicamente. A ancestralidade autorreferida da população brasileira está sujeita a importante divergência da ancestralidade genômica, e existem marcadores sensíveis e capazes de estratificar as três principais raízes ancestrais brasileiras. A prevalência de hipotireoidismo no Brasil é de aproximadamente 7,4% e ela tem sido destacada como possivelmente umas das maiores do mundo. O estudo Elsa Brasil tireoide evidenciou que mulheres autorreferidas como brancas apresentam uma frequência maior de hipotireoidismo do que pardas e negras. Objetivo – Determinar a ancestralidade genômica como fator de risco para hipotireoidismo. Material e métodos – Foram incluídos 9.372 participantes, 53,8% do sexo feminino, com idade média de 51 anos, da coorte do estudo Elsa-Brasil. O DNA purificado foi obtido do sangue periférico dos participantes, usando-se o QIAamp DNA Mini-kit1. As amostras foram genotipadas usando se um painel 192 marcadores informativos de ancestralidade. A análise da ancestralidade genômica foi conduzida com o uso do programa Admixture. Resultados – A prevalência de hipotireoidismo subclínico (HSC) e hipotireoidismo clínico (HC) encontrada foi de 9% e 7,1%, respectivamente; ser do sexo feminino aumentou o risco de HC em 4,43 e 4,68, respectivamente, nas análises de regressão logística univariada e multivariada. Sobre a ancestralidade genômica predominante, a genotipagem classificou os indivíduos em: 69,9% com predominância europeia (EUR); 13% africana (AFR); 4,6% nativa; e 12,5% com genótipo de multiancestralidade. O subgrupo EUR teve a maior prevalência de HC (7,9%), demonstrando que a ancestralidade EUR está associada a um maior risco de HC, enquanto as ancestralidades genômicas africana (AFR) e a multiancestralidade tiveram papel protetor. Por outro lado, a ancestralidade genômica predominantemente AFR teve o maior percentual de hipertireoidismo (1,7%). A obesidade aumentou o risco de HC, e o percentual de hipertensão arterial, diabetes mellitus e obesidade foi significativamente mais elevado no subgrupo de ancestralidade genômica predominantemente AFR. O TSH demonstrou relação diretamente proporcional com a ancestralidade EUR (p < 0,01) e inversamente proporcional com a AFR (p < 0,01), assim como com o T4 livre (p < 0,01). Conclusão – Nossos resultados demonstram a importante influência da ancestralidade nas doenças tireoidianas e doenças associadas.	pt_BR
dc.publisher.department	Instituto de Ciências da Saúde - ICS	pt_BR
dc.type.degree	Mestrado Acadêmico	pt_BR