title: Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese.
abstract: OBJECTIVE
  The three functional SNPs of BANK1 (rs10516487, rs17266594 and rs3733197) have been shown to be associated with SLE in Caucasian populations. The aim of this study was to investigate whether the association of BANK1 polymorphisms with SLE could be replicated in a Chinese population and whether the autoantibody production is relevant to BANK1 polymorphisms.
  
  
  METHODS
  Genotyping of three variants in BANK1 was carried out by unlabelled probe high resolution melting (HRM) assay in 264 SLE cases and 268 controls in a Chinese Han population living in Shanghai region. The genotype frequencies of the detected polymorphisms were analysed in relation to the production of autoantibodies (ANA, anti-dsDNA, anti-RNP, anti-SSA, anti-SSB and anti-Smith) in SLE patients.
  
  
  RESULTS
  Samples with the target genotypes were accurately detected and easily distinguishable by unlabelled probe HRM assay. The frequencies of the rs10516487 C allele and the rs17266594 T allele were significantly increased compared with the controls (C allele: 88.6 vs 83.2%, P = 0.011; T allele: 88.3 vs 83.2%, P = 0.019). However, the frequencies of the rs3733197 G allele were not associated with SLE (G allele: 79.9 vs 79.1%, P = 0.741). The rs10516487 and rs17266594 polymorphisms were significantly associated with high-titre ANA (≥1 : 320) and production of anti-SSA antibodies in SLE patients compared with the control subjects.
  
  
  CONCLUSIONS
  Genotyping using unlabelled probes is a rapid, accurate and cost-effective closed-tube method. This study implies that rs10516487 and rs17266594 polymorphisms might contribute to individual susceptibility to SLE and influence the ANA/SSA autoantibody response in SLE patients in Chinese population.
authors.affiliation: Central Laboratory, and Department of Laboratory Medicine, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Guan
authors.forename: Bo
authors.initials: B
authors.lastname: Yu
authors.forename: Jun
authors.initials: J
authors.lastname: Wan
authors.forename: Xinju
authors.initials: X
authors.lastname: Zhang
authors.forename: Zhiyuan
authors.initials: Z
authors.lastname: Wu
authors.forename: Qili
authors.initials: Q
authors.lastname: Zhong
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Hejian
authors.initials: H
authors.lastname: Zou
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D044466:Asian People; D001323:Autoantibodies / Q000276:immunology; D016022:Case-Control Studies; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D001323:Autoantibodies; C447641:BANK1 protein, human; D008565:Membrane Proteins