Female predominance and X chromosome defects in autoimmune diseases

Pietro Invernizzi, Simone Pasini, Carlo Selmi, M. Eric Gershwin, Mauro Podda

Research output: Contribution to journalArticle

118 Scopus citations

Abstract

It is known that autoimmune diseases cumulatively affect 5-10% of the general population. Although knowledge of pathogenesis has become more refined, laboratory diagnosis more accurate, and therapy more effective, the reasons for the female preponderance of these conditions remain unclear. The most intriguing theory to explain the female preponderance is currently related to sex chromosomes, as women with autoimmune diseases manifest a higher rate of circulating cells with a single X chromosome (i.e. X monosomy). In addition, there have been several reports on the role of X chromosome gene dosage through inactivation or duplication in autoimmunity. Taken together, sex chromosome changes might constitute the common trait of the susceptibility to autoimmune diseases.

Original languageEnglish (US)
Pages (from-to)12-16
Number of pages5
JournalJournal of Autoimmunity
Volume33
Issue number1
DOIs
StatePublished - Aug 2009

Keywords

  • Autoimmune disease
  • Etiopathogenesis
  • Female preponderance
  • Genetic factors
  • Sex chromosomes

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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