X chromosome inactivation and autoimmune diseases

doi:10.5499/wjr.v3.i3.12

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World Journal of Rheumatology

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2220-3214

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Rheumatol. Nov 12, 2013; 3(3): 12-15
Published online Nov 12, 2013. doi: 10.5499/wjr.v3.i3.12

X chromosome inactivation and autoimmune diseases

Ghazi Chabchoub

Ghazi Chabchoub, Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, 3021 Sfax, Tunisie

Author contributions: Chabchoub G solely contributed to this paper.

Correspondence to: Ghazi Chabchoub, MD, PhD, Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Caisse National d’assurance Maladie, Rue Mongi Slim Sakiet Ezzit, 3021 Sfax, Tunisie. ghazi.chabchoub@laposte.net

Telephone: +216-98-291120 Fax: +216-74-856010

Received: May 29, 2013
Revised: August 21, 2013
Accepted: September 4, 2013
Published online: November 12, 2013
Processing time: 173 Days and 21.3 Hours

Abstract

The pathogenesis of autoimmune diseases (AIDs) is characterized by a female preponderance. The causes for this sex imbalance are based on several hypotheses. One of the most intriguing hypotheses is related to an X chromosome inactivation (XCI) process. Females are mosaics for two cell populations, one with the maternal and one with the paternal X as the active chromosome. Skewed XCI is often defined as a pattern where 80% or more of the cells show a preferential inactivation of one X chromosome. The role of skewed XCI has been questioned in the pathogenesis of several AIDs, such as autoimmune thyroid diseases and rheumatoid arthritis.

Keywords: X chromosome; X chromosome inactivation; Autoimmune diseases

Core tip: The causes and mechanisms for sex imbalance are based on several hypotheses. X chromosome inactivation is an important hypothesis to explain the female preponderance.