Genetic component of autoimmune rheumatological diseases

Reumatol Clin (Engl Ed). 2022 Dec;18(10):614-620. doi: 10.1016/j.reumae.2021.08.001. Epub 2021 Dec 23.

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.

Keywords: Autoimmune diseases; Enfermedades autoinmunes; Epigenetic; Epigenética; Genetic; Genética; Sex; Sexo.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases* / diagnosis
  • Biomarkers
  • Female
  • Humans
  • Rheumatic Diseases* / genetics

Substances

  • Biomarkers