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Scofield, R.H.* ; Lewis, V.M.* ; Cavitt, J.* ; Kurien, B.T.* ; Assassi, S.* ; Martin, J.* ; Gorlova, O.* ; Gregersen, P.K.* ; Lee, A.* ; Rider, L.G.* ; O'Hanlon, T.P.* ; Rothwell, S.* ; Lilleker, J.B.* ; Liu, X.* ; Kochi, Y.* ; Terao, C.* ; Igoe, A.* ; Stevens, W.* ; Sahhar, J.* ; Roddy, J.* ; Rischmueller, M.* ; Lester, S.* ; Proudman, S.* ; Chen, S.* ; Brown, M.A.* ; Mayes, M.D.* ; Lamb, J.A.* ; Miller, F.W.* ; Myositis Genetics Consortium (MYOGEN) (Gieger, C. ; Meitinger, T. ; Winkelmann, J.)

47XXY and 47XXX in scleroderma and myositis.

ACR Open Rheumatol. 4, 528-533 (2022)

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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.

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