title: Functional polymorphism of the NFKB1 gene promoter is not relevant in predisposition to celiac disease.
abstract: OBJECTIVE
  The nuclear factor (NF)-kappaB is one of the pivotal regulators of autoimmunity and inflammation, which has been shown to be activated in the inflamed mucosa of patients with celiac disease (CD). Recently, in the NFKB1 gene promoter region, a common insertion/deletion (-94ins/delATTG) polymorphism located between two putative key promoter regulatory elements was described. The aim of this study was to investigate the contribution of the -94ins/delATTG NFKB1 gene promoter functional variant to CD genetic predisposition.
  
  
  METHODS
  A case-control cohort comprising 478 patients with CD and 711 healthy controls as well as a panel of 196 celiac families was genotyped for the 94ins/delATTG NFKB1 polymorphism, using a polymerase chain reaction (PCR) method combined with fluorescence technology.
  
  
  RESULTS
  We found no statistically significant differences between CD patients and controls when the -94ins/delATTG genotype and allele distributions were compared. Accordingly, the familial analysis did not reach statistically significant deviation in the transmission of -94ins/delATTG alleles to the affected offspring.
  
  
  CONCLUSIONS
  From these results, it could be suggested that the -94ins/delATTG NFKB1 polymorphism does not play a major role in CD susceptibility.
authors.affiliation: Instituto de Parasitología y Biomedicina López Neyra, Granada, Spain.
authors.forename: Blanca
authors.initials: B
authors.lastname: Rueda
authors.forename: Concepción
authors.initials: C
authors.lastname: Núñez
authors.forename: Miguel A
authors.initials: MA
authors.lastname: López-Nevot
authors.forename: Maria
authors.initials: M
authors.lastname: Paz Ruiz
authors.forename: Elena
authors.initials: E
authors.lastname: Urcelay
authors.forename: Emilio G
authors.initials: EG
authors.lastname: De la Concha
authors.forename: Javier
authors.initials: J
authors.lastname: Martín
mesh_terms: D000483:Alleles; D002446:Celiac Disease / Q000235:genetics*; D002648:Child; D004198:Disease Susceptibility; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D052002:NF-kappa B p50 Subunit / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human