title: Genetic variants of BANK1 gene in autoimmune thyroid diseases: a case-control association study.
abstract: OBJECTIVE
  To investigate BANK1 gene variation, and its association with autoimmune thyroid disease and clinical features.
  
  
  METHODS
  We genotyped 3 single nucleotide polymorphisms (SNPs) rs10516487, rs3733197 and rs4522865 of BANK1 gene in 667 patients with autoimmune thyroid diseases (417 with Graves' disease and 250 with Hashimoto's thyroiditis) and 301 healthy controls. The Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform was used to detect the 3 SNPs.
  
  
  RESULTS
  There was a significant association in rs3733197 A allele and AITD patients (P=0.043). SNP rs3733197 A allele was found in 29.63% chromosome of AITD patients who are 18 years old or below, compared with 19.90% chromosome in those 19 years or above (P=0.017). Also SNP rs3733197 A allele showed a significant association in HT patients when compared with controls (P=0.031, OR=0.73 and 95% CI=0.55-0.97). Stratification for specific autoantibodies in AITD patients TGAb positive when compared with SE (shared epitope) positive showed a significant association in rs3733197 SNP (P=0.010, OR=0.68 and 95%=CI 0.51-0.91). However, no significant association was found between 3 SNPs and GD.
  
  
  CONCLUSIONS
  Our findings suggest the existence of association between BANK1 gene and AITD thus adding BANK1 gene to the list of the predisposing genes to AITD.
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Medical School of Xi'an Jiaotong University, Xi'an, People's Republic of China.
authors.forename: F-S
authors.initials: FS
authors.lastname: Muhali
authors.forename: R-H
authors.initials: RH
authors.lastname: Song
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: X-H
authors.initials: XH
authors.lastname: Shi
authors.forename: W-J
authors.initials: WJ
authors.lastname: Jiang
authors.forename: L
authors.initials: L
authors.lastname: Xiao
authors.forename: D-F
authors.initials: DF
authors.lastname: Li
authors.forename: S-T
authors.initials: ST
authors.lastname: He
authors.forename: J
authors.initials: J
authors.lastname: Xu
authors.forename: J-A
authors.initials: JA
authors.lastname: Zhang
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006111:Graves Disease / Q000235:genetics; D049970:Graves Ophthalmopathy / Q000235:genetics / Q000473:pathology; D050031:Hashimoto Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D007453:Iodide Peroxidase / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D013954:Thyroglobulin / Q000276:immunology; D013967:Thyroiditis, Autoimmune / Q000235:genetics*; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C447641:BANK1 protein, human; D008565:Membrane Proteins; D004247:DNA; D013954:Thyroglobulin; D007453:Iodide Peroxidase