(rs11549465) and (rs10817595) Gene Polymorphisms Are Associated with Primary Sjögren's Syndrome.

. To evaluate the allele and genotype frequencies of polymorphic sites of and genes in primary Sjögren's syndrome (pSS). . We included 110 patients with pSS and 141 ethnically matched healthy controls. Three gene polymorphisms , , and and two polymorphisms and were genotyped using TaqMan probes in a Real-Time PCR instrument. Associations between pSS and genotypes, alleles, and inheritance models of the SNPs of interest were evaluated by logistic regression adjusted by age and gender. . The / genotype and the allele of the polymorphism protected against pSS (OR = 0.22; 95% CI = 0.09-0.52; < 0.01; OR = 0.26; 95% CI = 0.12-0.58; < 0.01, resp.), whereas under a recessive model adjusted by age and gender, the polymorphism A/A genotype was associated with an increased risk of pSS (OR = 2.60; 95% CI = 1.11-6.12; = 0.03). . We identified allele and / genotype as well as polymorphism A/A genotype as genetic factors associated with pSS. Further studies in other populations are needed to validate our findings and research is warranted in order to shed some light on their functional implications across biological pathways in this disease.