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47XXY and 47XXX in Scleroderma and Myositis

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

ACR open rheumatology, 2022-06, Vol.4 (6), p.528-533 [Periódico revisado por pares]

Boston, USA: Wiley Periodicals, Inc

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  • Título:
    47XXY and 47XXX in Scleroderma and Myositis
  • Autor: Scofield, R. Hal ; Lewis, Valerie M. ; Cavitt, Joshua ; Kurien, Biji T. ; Assassi, Shervin ; Martin, Javier ; Gorlova, Olga ; Gregersen, Peter ; Lee, Annette ; Rider, Lisa G. ; O'Hanlon, Terrance ; Rothwell, Simon ; Lilleker, James ; Kochi, Yuta ; Terao, Chikacshi ; Igoe, Ann ; Stevens, Wendy ; Sahhar, Joanne ; Roddy, Janet ; Rischmueller, Maureen ; Lester, Sue ; Proudman, Susanna ; Chen, Sixia ; Brown, Matthew A. ; Mayes, Maureen D. ; Lamb, Janine A. ; Miller, Frederick W.
  • Assuntos: Autoimmune diseases ; Bias ; Birth rate ; Cancer ; Disease ; Inflammatory diseases ; Lupus ; Medical research ; Musculoskeletal diseases ; Original ; Scleroderma ; Sex chromosomes ; Womens health ; X chromosomes
  • É parte de: ACR open rheumatology, 2022-06, Vol.4 (6), p.528-533
  • Notas: There was no involvement of patients or the public in this work.
    https://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Facr2.11413&file=acr211413‐sup‐0001‐Disclosureform.pdf
    No potential conflicts of interest relevant to this article were reported.
    Data are available on reasonable request.
    Author disclosures are available at
    Funded in part by the Intramural Research Program of the National Institute of Environmental Sciences as well as grants from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (AR‐053483 and AR‐053734) and the National Institute of General Medical Sciences (GM‐104938). Dr. Scofield's work was supported in part by a grant from the US Department of Veterans Affairs (BX001451).
    .
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    Author disclosures are available at https://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Facr2.11413&file=acr211413‐sup‐0001‐Disclosureform.pdf.
  • Descrição: 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.
  • Editor: Boston, USA: Wiley Periodicals, Inc
  • Idioma: Inglês
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