title: Role of BANK1 gene polymorphisms in biopsy-proven giant cell arteritis.
abstract: OBJECTIVE
  Giant cell arteritis (GCA) is a complex polygenic disease in which more than 1 genetic locus is likely to contribute to disease susceptibility and clinical expression. BANK, an adaptor molecule, has been suggested to participate in the B cell antigen receptors-mediated calcium homeostasis. We assessed for the first time the implication of BANK1 functional variants in susceptibility to GCA.
  
  
  METHODS
  Two hundred twenty-two patients with biopsy-proven GCA and 534 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for 3 putative functional BANK1 gene polymorphisms (rs17266594 T/C, rs10516487 G/A, rs3733197 G/A) using a TaqMan allele discrimination assay.
  
  
  RESULTS
  No significant differences were observed in genotype distribution between patients with biopsy-proven GCA and controls for these 3 gene polymorphisms. A trend for a decreased risk of having GCA was observed in individuals carrying the BANK1 rs3733197 GG genotype (patients with GCA 43.9% compared to 51.6% in controls; p = 0.06, OR 0.73, 95% CI 0.53-1.02). The frequency of BANK1 rs3733197 allele G was marginally decreased in patients with biopsy-proven GCA compared to controls (p = 0.09, OR 0.82, 95% CI 0.64-1.04). Haplotype analysis of 3-single-nucleotide polymorphisms found no statistically significant differences between patients with GCA and controls. No significant differences for the BANK1 gene polymorphisms were found when patients were stratified according to specific clinical features of the disease.
  
  
  CONCLUSIONS
  Our results do not support a major implication of the BANK1 locus in susceptibility to GCA.
authors.affiliation: Instituto de Parasitología y Biomedicina López Neyra, ConsejoSuperior de Investigaciones Cientificas, San Cecílio, Granada.
authors.forename: Orlando
authors.initials: O
authors.lastname: Torres
authors.forename: Rogelio
authors.initials: R
authors.lastname: Palomino-Morales
authors.forename: Santos
authors.initials: S
authors.lastname: Castañeda
authors.forename: Tomas R
authors.initials: TR
authors.lastname: Vazquez-Rodriguez
authors.forename: Inmaculada C
authors.initials: IC
authors.lastname: Morado
authors.forename: Jose A
authors.initials: JA
authors.lastname: Miranda-Filloy
authors.forename: Encarnacion
authors.initials: E
authors.lastname: Amigo-Diaz
authors.forename: Esther F
authors.initials: EF
authors.lastname: Vicente
authors.forename: Norberto
authors.initials: N
authors.lastname: Ortego-Centeno
authors.forename: Benjamin
authors.initials: B
authors.lastname: Fernandez-Gutierrez
authors.forename: Javier
authors.initials: J
authors.lastname: Martin
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Gonzalez-Gay
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D001706:Biopsy; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000235:genetics / Q000473:pathology*; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C447641:BANK1 protein, human; D008565:Membrane Proteins