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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 …