Objectives: Primary Sjögren's syndrome (pSS) is an autoimmune disease with a complex genetic background. Single nucleotide polymorphisms (SNPs) in the BANK1 and FAM167A-BLK genes have been associated with multiple autoimmune diseases. In this study, we investigated whether SNPs in the BANK1 (rs4522865, rs17266594, and rs10516487) and in the FAM167A-BLK region (rs2736340, rs13277113) could be associated with pSS in Chinese Han.
Methods: Blood DNA was extracted from 540 patients with pSS and 577 healthy controls, and genotyped using the Sequenom MassArray system.
Results: There was no significant association between the polymorphisms of BANK1 and pSS. However, the frequency of Pss patients with the T allele (rs2736340) and A allele (rs13277113) of the FAM167A-BLK region was higher than that in the controls (p=0.034; p=0.026 respectively). Genotype and haplotype frequencies of these two SNPs (rs2736340 and rs13277113) between the patients and healthy controls were also significantly different. In addition, associations were observed between the two SNPs and the patients negative for anti-LA/SSB antibodies (p=0.036 and p=0.031 respectively). There was no epistatic interaction between the SNPs in the BANK1 and FAM167A-BLK region.
Conclusions: Our results indicated that the SNPs (rs2736340, rs13277113) of the FAM167A-BLK region, but not the BANK1 SNPs (rs4522865, rs17266594, and rs10516487), were associated with the development of pSS in Han Chinese.