X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjogren's Syndrome
More than 80% of autoimmune disease predominantly affects females, but the mechanism for this female bias is poorly understood. We suspected that an X chromosome dose effect accounts for this, and we undertook this study to test our hypothesis that trisomy X (47,XXX; occurring in ~1 in 1,000 live female births) would be increased in patients with female predominant diseases (systemic lupus erythematosus [SLE] primary Sjogren's syndrome [SS] primary biliary cirrhosis, and rheumatoid arthritis [RA] compared to patients with diseases without female predominance (sarcoidosis) and compared to controls.
Arthritis rheumatology