Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population.

The aim of our study was to investigate the association between single nucleotide polymorphisms (SNPs) in the BANK1 gene and polymyositis/dermatomyositis (PM/DM) in a Chinese Han population. In total, 363 PM patients, 654 DM patients, and 1280 healthy controls were recruited and genotyped using the Sequenom MassArray system. A significant allele association was observed in rs3733197 among the PM/DM patients (OR 0.81, 95%CI 0.70-0.94, Pc = 1.83 × 10-2). Notably, rs3733197 was associated with DM and PM/DM patients with ILD involvement (Pc = 0.026; Pc = 6.0 × 10-3, respectively). However, no statistically significant difference was observed in the allele or genotype frequencies of three SNPs (rs4522865, rs17266594, and rs10516487) among the DM, PM, and PM/DM patients and healthy controls (all Pc > 0.05). This study was the first to demonstrate that a BANK1 gene SNP (rs3733197) could confer genetic predisposition in PM/DM patients and PM/DM patients with ILD in a Chinese Han population.