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Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome
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2016 (English)In: Clinical Immunology, ISSN 1521-6616, E-ISSN 1521-7035, Vol. 168, 25-29 p.Article in journal (Refereed) Published
Abstract [en]

Primary Sjögren's syndrome (pSS) has a strong female bias. We evaluated an X chromosome dose effect by analyzing 47,XXY (Klinefelter's syndrome, 1 in 500 live male births) among subjects with pSS. 47,XXY was determined by examination of fluorescence intensity of single nucleotide polymorphisms from the X and Y chromosomes. Among 136 pSS men there were 4 with 47,XXY. This was significantly different from healthy controls (1 of 1254 had 47,XXY, p=0.0012 by Fisher's exact test) as well men with rheumatoid arthritis (0 of 363 with 47,XXY), but not different compared to men with systemic lupus erythematosus (SLE) (4 of 136 versus 8 of 306, Fisher's exact test p=NS). These results are consistent with the hypothesis that the number of X chromosomes is critical for the female bias of pSS, a property that may be shared with SLE but not RA.

Place, publisher, year, edition, pages
2016. Vol. 168, 25-29 p.
National Category
Rheumatology and Autoimmunity
Research subject
Medical Science
Identifiers
URN: urn:nbn:se:uu:diva-300374DOI: 10.1016/j.clim.2016.04.002ISI: 000380297600004PubMedID: 27109640OAI: oai:DiVA.org:uu-300374DiVA: diva2:951350
Funder
NIH (National Institute of Health), AR053483 AI082714 AR053734 GM104938
Available from: 2016-08-08 Created: 2016-08-08 Last updated: 2016-11-24Bibliographically approved

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