47XXY and 47XXX in Scleroderma and Myositis

R. Hal Scofield, Valerie M. Lewis, Joshua Cavitt, Biji T. Kurien, Shervin Assassi, Javier Martin, Olga Gorlova, Peter Gregersen, Annette Lee, Lisa G. Rider, Terrance O'Hanlon, Simon Rothwell, James Lilleker, Myositis Genetics Consortium, Xiaoxi Liu, Yuta Kochi, Chikacshi Terao, Ann Igoe, Wendy Stevens, Joanne SahharJanet Roddy, Maureen Rischmueller, Sue Lester, Susanna Proudman, Sixia Chen, Matthew A. Brown, Maureen D. Mayes, Janine A. Lamb, Frederick W. Miller

Research output: Contribution to journalArticleResearchpeer-review

4 Citations (Scopus)

Abstract

Objective: We undertook this study to examine the X chromosome complement in participants with systemic sclerosis (SSc) as well as idiopathic inflammatory myopathies. Methods: The participants met classification criteria for the diseases. All participants underwent single-nucleotide polymorphism typing. We examined X and Y single-nucleotide polymorphism heterogeneity to determine the number of X chromosomes. For statistical comparisons, we used χ2 analyses with calculation of 95% confidence intervals. Results: Three of seventy men with SSc had 47,XXY (P = 0.0001 compared with control men). Among the 435 women with SSc, none had 47,XXX. Among 709 men with polymyositis or dermatomyositis (PM/DM), seven had 47,XXY (P = 0.0016), whereas among the 1783 women with PM/DM, two had 47,XXX. Of 147 men with inclusion body myositis (IBM), six had 47,XXY, and 1 of the 114 women with IBM had 47,XXX. For each of these myositis disease groups, the excess 47,XXY and/or 47,XXX was significantly higher compared with in controls as well as the known birth rate of Klinefelter syndrome or 47,XXX. Conclusion: Klinefelter syndrome (47,XXY) is associated with SSc and idiopathic inflammatory myopathies, similar to other autoimmune diseases with type 1 interferon pathogenesis, namely, systemic lupus erythematosus and Sjögren syndrome.

Original languageEnglish
Pages (from-to)528-533
Number of pages6
JournalACR Open Rheumatology
Volume4
Issue number6
DOIs
Publication statusPublished - Jun 2022
Externally publishedYes

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