The X chromosome and immune associated genes

Ilaria Bianchi, Ana Lleo, M. Eric Gershwin, Pietro Invernizzi

Research output: Contribution to journalArticle

137 Scopus citations

Abstract

The X chromosome is known to contain the largest number of immune-related genes of the whole human genome. For this reason, X chromosome has recently become subject of great interest and attention and numerous studies have been aimed at understanding the role of genes on the X chromosome in triggering and maintaining the autoimmune aggression. Autoimmune diseases are indeed a growing heath burden affecting cumulatively up to 10% of the general population. It is intriguing that most X-linked primary immune deficiencies carry significant autoimmune manifestations, thus illustrating the critical role played by products of single gene located on the X chromosome in the onset, function and homeostasis of the immune system. Again, the plethora of autoimmune stigmata observed in patients with Turner syndrome, a disease due to the lack of one X chromosome or the presence of major X chromosome deletions, indicate that X-linked genes play a unique and major role in autoimmunity. There have been several reports on a role of X chromosome gene dosage through inactivation or duplication in women with autoimmune diseases, for example through a higher rate of circulating cells with a single X chromosome (i.e. with X monosomy). Finally, a challenge for researchers in the coming years will be to dissect the role for the large number of X-linked microRNAs from the perspective of autoimmune disease development. Taken together, X chromosome might well constitute the common trait of the susceptibility to autoimmune diseases, other than to explain the female preponderance of these conditions. This review will focus on the available evidence on X chromosome changes and discuss their potential implications and limitations.

Original languageEnglish (US)
JournalJournal of Autoimmunity
Volume38
Issue number2-3
DOIs
StatePublished - May 2012

Keywords

  • Autoimmunity
  • Etiopathogenesis
  • Female preponderance
  • Genetic factors
  • Sex chromosomes

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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