Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome

Valerie M. Harris, Rohan Sharma, Joshua Cavett, Biji T. Kurien, Ke Liu, Kristi A. Koelsch, Astrid Rasmussen, Lida Radfar, David Lewis, Donald U. Stone, C. Erick Kaufman, Shibo Li, Barbara Segal, Daniel J. Wallace, Michael H. Weisman, Swamy Venuturupalli, Jennifer A. Kelly, Marta E. Alarcon-Riquelme, Bernardo Pons-Estel, Roland JonssonXianglan Lu, Jacques Eric Gottenberg, Juan Manuel Anaya, Deborah S. Cunninghame-Graham, Andrew J W Huang, Michael T. Brennan, Pamela Hughes, Ilias Alevizos, Corinne Miceli-Richard, Edward C. Keystone, Vivian P. Bykerk, Gideon Hirschfield, Gang Xie, Wan Fai Ng, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L. Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, Torsten Witte, Xavier Mariette, Christopher J. Lessard, John B. Harley, Kathy L. Sivils, R. Hal Scofield

Research output: Contribution to journalArticle

23 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)25-29
Number of pages5
JournalClinical Immunology
Volume168
DOIs
StatePublished - Jul 1 2016
Externally publishedYes

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Keywords

  • Klinefelter's syndrome
  • Sex bias
  • Sjögren's syndrome
  • X chromosome

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Medicine(all)

Cite this

Harris, V. M., Sharma, R., Cavett, J., Kurien, B. T., Liu, K., Koelsch, K. A., Rasmussen, A., Radfar, L., Lewis, D., Stone, D. U., Kaufman, C. E., Li, S., Segal, B., Wallace, D. J., Weisman, M. H., Venuturupalli, S., Kelly, J. A., Alarcon-Riquelme, M. E., Pons-Estel, B., ... Scofield, R. H. (2016). Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome. Clinical Immunology, 168, 25-29. https://doi.org/10.1016/j.clim.2016.04.002