HIF1A(rs11549465) andAKNA(rs10817595) Gene Polymorphisms Are Associated with Primary Sjögren’s Syndrome

Objective. To evaluate the allele and genotype frequencies of polymorphic sites ofHIF1AandANKAgenes in primary Sjögren’s syndrome (pSS).Methods. We included 110 patients with pSS and 141 ethnically matched healthy controls. ThreeHIF1Agene polymorphisms(Pro582Ser,Ala588Thr, andC191T)and twoAKNA genepolymorphisms(−1372C>AandPro624Leu)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.Results. TheC/Tgenotype and theTallele of theHIF1A Pro582Serpolymorphism protected against pSS (OR = 0.22; 95% CI = 0.09–0.52;P<0.01; OR = 0.26; 95% CI = 0.12–0.58;P<0.01, resp.), whereas under a recessive model adjusted by age and gender, theAKNA −1372C>Apolymorphism A/A genotype was associated with an increased risk of pSS (OR = 2.60; 95% CI = 1.11–6.12;P=0.03).Conclusions. We identifiedHIF1A Pro582SerTallele andC/Tgenotype as well asAKNA −1372C>Apolymorphism 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.