Contribuição genética para o entendimento da fisiopatologia da doença de crohn / Genetic contribution to understanding the pathophysiology of crohn's disease

Authors

  • Luís Fernando Lipka Insfran
  • Paulo Roberto da Silva Couto
  • Edis Belini Junior

DOI:

https://doi.org/10.34119/bjhrv5n2-202

Keywords:

doença de crohn, marcadores genéticos, fisiopatologia.

Abstract

A Doença de Crohn (DC) integra o grupo das Doenças Inflamatórias Intestinais (DII) e apresenta aspectos multifatoriais, os quais dificultam a correta compreensão de sua fisiopatologia. Apesar de forte componente genético de susceptibilidade, com mais de 200 loci associados, esse explica apenas 1/3 dos eventos, evidenciando a relevância de outros fatores. Assim, objetivou-se avaliar a relação entre a genética, fisiopatologia e a ocorrência da DC. Foi realizada uma revisão bibliográfica na base de dados MEDLINE, utilizando os descritores “Crohn’s disease”, “Genetic Markers” e “Pathology”, no período de 2016 a 2021. Foram encontrados 35 artigos, dos quais 18 foram selecionados para compor esse estudo de acordo com os critérios de inclusão e exclusão. Dentre os distúrbios genéticos associados à etiologia complexa da DC, destacam-se: redução de peptídeos intestinais com função de barreira antimicrobiana, desenvolvimento de microbiota pró-inflamatória, polimorfismos nos genes NOD2, ATG16L1 e IRGM relacionados à autofagia e miRNAs desregulados (ex: miR-100, miR-142-3p e miR-146a). Tais fatores contribuem para o estado inflamatório do trato gastrointestinal e possivelmente para a carcinogênese. Têm sido encontrados padrões de metilação específico na DC com diferentes locais de metilação alterada (VMP1, CARD9, WNT2B), incluindo genes relevantes do sistema imune adaptativo e inato (TNFSF4, ITGB2), todos associados a sua etiofisiopatogenia. Conclui-se que as produções científicas entre 2016 e 2021 resultaram em avanços relevantes para a compreensão da fisiopatologia da DC, mas sua etiologia e patogênese, apesar das diversas teorias propostas, permanecem desconhecidas e muitos aspectos ainda necessitam de investigação.

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Published

2022-04-08

How to Cite

INSFRAN, L. F. L.; COUTO, P. R. da S.; JUNIOR, E. B. Contribuição genética para o entendimento da fisiopatologia da doença de crohn / Genetic contribution to understanding the pathophysiology of crohn’s disease. Brazilian Journal of Health Review, [S. l.], v. 5, n. 2, p. 6265–6278, 2022. DOI: 10.34119/bjhrv5n2-202. Disponível em: https://ojs.brazilianjournals.com.br/ojs/index.php/BJHR/article/view/46235. Acesso em: 28 mar. 2024.

Issue

Section

Original Papers