Published online Nov 12, 2013. doi: 10.5499/wjr.v3.i3.12
Revised: August 21, 2013
Accepted: September 4, 2013
Published online: November 12, 2013
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.
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.