X chromosome in autoimmune diseases

Abstract

Autoimmune diseases altogether affect approximately 5% of the population in Western countries, with a higher prevalence in women. Exploring the biological differences between sexes, great attention was focused on hormones and, more recently, on fetal microchimerism, without reaching definitive evidence. Genetic factors are known to be crucial determinants of susceptibility, as shown by family and twin studies, although no specific genes predisposing women to autoimmunity have been identified thus far. In this article, we review recent data regarding X-chromosome abnormalities, such as inactivation patterns and X monosomy, that characterize some female-predominant autoimmune diseases. We believe that future high-throughput tools will help to identify specific clusters of genes on the sex chromosomes that are candidates for disease susceptibility or resistance.

Keywords::

• autoimmune disease
• autoimmunity
• epigenetic factor
• genetic factor
• X chromosome
• X-chromosome inactivation

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.