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Genetic association between methyl-CpG binding protein 2 (MECP2) and primary Sjögren's syndrome
  1. Beth L Cobb1,
  2. Yiping Fei1,2,
  3. Roland Jonsson3,
  4. Anne Isine Bolstad3,4,
  5. Johan G Brun5,6,
  6. Maureen Rischmueller7,
  7. Susan E Lester8,
  8. Torsten Witte9,
  9. Gabor Illei10,
  10. Michael Brennan11,
  11. Simon Bowman12,
  12. Kathy L Moser1,
  13. John B Harley1,2,13,
  14. Amr H Sawalha1,2,13
  1. 1Arthritis and Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA
  2. 2Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
  3. 3Broegelmann Research Laboratory, The Gade Institute, University of Bergen, Bergen, Norway
  4. 4Department of Clinical Dentistry, University of Bergen, Bergen, Norway
  5. 5Department of Rheumatology, Haukeland University Hospital, Bergen, Norway
  6. 6Section for Rheumatology, University of Bergen, Bergen, Norway
  7. 7Department of Rheumatology, The Queen Elizabeth Hospital, Adelaide, Australia
  8. 8Arthritis Research Laboratory, Hanson Institute, Adelaide, Australia
  9. 9Clinic for Immunology and Rheumatology, Medical School of Hannover, Hannover, Germany
  10. 10Sjögren's Syndrome Clinic, National Institute of Dental and Craniofacial Research, Gene Therapy and Therapeutics Branch, National Institutes of Health, Bethesda, Maryland, USA
  11. 11Department of Oral Medicine, Carolinas Medical Center, Charlotte, North Carolina, USA
  12. 12Department of Rheumatology, University Hospital Birmingham NHS Foundation Trust, Selly Oak, Birmingham, UK
  13. 13US Department of Veterans Affairs Medical Center, Oklahoma City, Oklahoma, USA
  1. Correspondence to Dr Amr H Sawalha, 825 NE 13th Street, MS#24, Oklahoma City, Oklahoma 73104, USA; amr-sawalha{at}

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Primary Sjögren's syndrome (pSS) is a complex autoimmune disease that is incompletely understood. The principal manifestations of pSS are dry eyes and dry mouth due to lymphocytic infiltration of the salivary and lacrimal glands. Like lupus, women are affected by pSS over nine times more than with men. The association of human leucocyte antigen loci with pSS and other autoimmune diseases is well documented.1,,3

A genetic association of the methyl-CpG binding protein 2 (MECP2) gene with lupus has been reported and confirmed in multiple independent cohorts.4 5 Herein, we examine the genetic association between MECP2 and pSS in a large cohort of pSS patients and healthy controls.

We studied a cohort of 460 European-derived independent pSS patients (423 women and 37 men) and 1828 ethnically matched normal healthy controls (1279 women and 549 men). All patients fulfiled the American–European Consensus Group classification criteria for pSS.6 Our study protocols were …

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  • Funding This work was made possible by National Institutes of Health (NIH) grant no R03AI076729 from the National Institute of Allergy and Infectious Diseases, and NIH grant nos P20-RR015577, P20-RR020143 and P30-AR053483 (AHS), NIH grant no DE015223 (JBH), and the Intramural Research Program of the National Institute of Dental and Craniofacial Research (GI).

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval The study protocols were approved by the institutional review boards or ethics committees of all the institutions.

  • Provenance and peer review Not commissioned; externally peer reviewed.