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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 …
Footnotes
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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).
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Competing interests None.
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Patient consent Obtained.
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Ethics approval The study protocols were approved by the institutional review boards or ethics committees of all the institutions.
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Provenance and peer review Not commissioned; externally peer reviewed.