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

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

doi:10.1016/j.clim.2016.04.002

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

Valerie M Harris, Michael H Weisman + Show 46 more

Open Access

https://doi.org/10.1016/j.clim.2016.04.002

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Journal: Clinical Immunology	Publication Date: Apr 22, 2016
Citations: 76

Affiliation: Oklahoma Medical Research Foundation, University of Oklahoma Health Sciences Center, Cedars-Sinai Medical Center, Carolinas Medical Center, Cincinnati Children's Hospital Medical Center, University of Cincinnati Medical Center, University of Minnesota Medical Center, University of Toronto, Dean McGee Eye Institute, University of Oklahoma, National Institutes of Health, Uppsala University, Stavanger University Hospital, Hospital for Special Surgery, Hannover Medical School, Twin Cities Orthopedics, University of Minnesota, University of Paris-Sud, Institut Polytechnique de Paris, King's College London, Linköping University, Örebro University, University of Adelaide, University of Bergen, Haukeland University Hospital, Universidad del Rosario, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research, Karolinska Institutet, Centro Científico Tecnólogico - Rosario, Newcastle University, University of Birmingham, University of Strasbourg

#Systemic Lupus Erythematosus #Klinefelter's Syndrome + Show 8 more

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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.

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