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

Clin Rheumatol. 2019 Feb;38(2):431-436. doi: 10.1007/s10067-018-4257-1. Epub 2018 Aug 25.

Abstract

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.

Keywords: Association; BANK1; Dermatomyositis; Polymyositis; rs3733197.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adult
  • Alleles
  • Asian People / genetics
  • Case-Control Studies
  • China
  • Dermatomyositis / genetics*
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Logistic Models
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Polymyositis / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • BANK1 protein, human
  • Membrane Proteins