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Connective tissue diseases

Multiple pathways to sex biases in autoimmunity

Nature Reviews Rheumatology volume 12, page 70 (2016)Cite this article

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An X-chromosome gene-dosage effect might help to explain the female sex bias observed in some (but not all) autoimmune diseases. Trisomy X (47,XXX) is usually asymptomatic, but population screening studies show that it occurs in one in 1,000 live female births. Genotyping of 2,826 patients with systemic lupus erythematosus (SLE), 1,033 patients with primary Sjögren syndrome (pSS), 1,118 patients with primary biliary cirrhosis, 1,710 patients with rheumatoid arthritis (RA), 7,074 healthy control individuals and 939 patients with the nonautoimmune disease sarcoidosis revealed a ∼2.5–3.0-fold higher than expected prevalence of 47,XXX in patients with SLE (1 in 404 patients, 95% CI 196–1,004) and those with pSS (1 in 344 patients, 95% CI 115–1,620). By contrast, the female sex bias observed in primary biliary cirrhosis and RA probably involves different mechanisms, as these groups showed no excess incidence of 47,XXX.

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References

  1. Liu, K. B. S. et al. X chromosome dose and sex bias in autoimmune diseases: increased 47,XXX in systemic lupus erythematosus and Sjögren's syndrome. Arthritis Rheumatol. http://dx.doi.org/10.1002/art.39560

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  1. Caroline Barranco
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Barranco, C. Multiple pathways to sex biases in autoimmunity. Nat Rev Rheumatol 12, 70 (2016). https://doi.org/10.1038/nrrheum.2016.3

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