Genetic component of autoimmune rheumatological diseases.

Daniela Juárez-Melchor, Pamela Munguía-Realpozo, Claudia Mendoza-Pinto, Ivet Etchegaray-Morales, Jorge Ayón-Aguilar, Socorro Mendez-Martínez, Mario García-Carrasco, Julio Granados Arriola

Journal: Reumatologia clinica 2022;18(10):614-620

PMID: 34953732

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Abstract

The purpose of this review is to present the main aspects of the genetic component of autoimmune rheumatic diseases, including the characteristics of the multifactorial or polygenic inheritance model, and its monogenic forms, as well as the main associated genes in both cases. The epigenetic changes involved, and the influence of the environment and sex that confer greater risk to women suffering from any of these diseases. Finally, to make known the advances that the study of omic sciences has allowed, opening the way to a new molecular classification of these diseases, aimed at personalized medicine. A review of the literature of the last 5 years, of English-language publications, in the PubMed database was performed and 28 review articles, and 19 original articles were included. Knowledge of the genetic factors involved in the aetiology of autoimmune rheumatic diseases, thanks to the availability of molecular studies, allows a better understanding of their pathophysiology and the possibility of diagnosis and treatment based on molecular markers in the future.

Address: Departamento de Genética, Facultad de Medicina, Benemérita Universidad Autónoma de Puebla, Puebla, Mexico; Departamento de Genética, Instituto Mexicano del Seguro Social, Puebla, Mexico.; Departamento de Reumatología, Facultad de Medicina, Benemérita Universidad Autónoma de Puebla, Puebla, Mexico.; Departamento de Reumatología, Facultad de Medicina, Benemérita Universidad Autónoma de Puebla, Puebla, Mexico; Unidad de Investigación de Enfermedades Autoinmunes Sistémicas, CIBIOR-Hospital de Especialidades UMAE, Instituto Mexicano del Seguro Social, Puebla, Mexico.; Coordinador Médico de Investigación en Salud, Instituto Mexicano del Seguro Social, Delegación Puebla, Mexico.; Coordinación de Planeación y Enlace Institucional, Instituto Mexicano del Seguro Social, Delegación Puebla, Mexico.; Departamento de Reumatología, Facultad de Medicina, Benemérita Universidad Autónoma de Puebla, Puebla, Mexico. Electronic address: [email protected].; División de Inmunogenética, Departamento de Trasplantes, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

DOI: 10.1016/j.reumae.2021.08.001

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MeSH Terms: Humans, Female, Rheumatic Diseases, Autoimmune Diseases, Biomarkers