title: -449 C>G polymorphism of NFKB1 gene, coding nuclear factor-kappa-B, is associated with the susceptibility to ulcerative colitis.
abstract: OBJECTIVE
  To clarify the association between a polymorphism -449 C>G (rs72696119) in 5'-UTR of NFKB1 with ulcerative colitis (UC).
  
  
  METHODS
  The studied population comprised 639 subjects, including patients with UC (UC cases, n = 174) and subjects without UC (controls, n = 465). We employed polymerase chain reaction-single strand conformation polymorphism to detect the gene polymorphism.
  
  
  RESULTS
  The rs72696119 G allele frequencies in controls and UC cases were 33.4% and 38.5%, respectively (P = 0.10). Genotype frequency of the GG homozygote in UC cases was significantly higher than that in controls (P = 0.017), and the GG homozygote was significantly associated with susceptibility to UC [odds ratio (OR), 1.88; 95%CI, 1.13-3.14]. In male subjects, the GG homozygote was associated with an increased risk for UC (OR, 3.10; 95%CI, 1.47-6.54; P = 0.0053), whereas this association was not found in female subjects. In addition, the GG homozygote was significantly associated with the risk of non-continuous disease (OR, 2.06; 95%CI, 1.12-3.79; P = 0.029), not having total colitis (OR, 2.40; 95%CI, 1.09-3.80, P = 0.040), disease which developed before 20 years of age (OR, 2.80; 95%CI, 1.07-7.32, P = 0.041), no hospitalization (OR, 2.28; 95%CI, 1.29-4.05; P = 0.0090) and with a maximum of 8 or less on the UCDAI score (OR, 2.45; 95%CI, 1.23-4.93; P = 0.022).
  
  
  CONCLUSIONS
  Our results provide evidence that NFKB1 polymorphism rs72696119 was significantly associated with the development of UC. This polymorphism influences the susceptibility to and pathophysiological features of UC.
authors: Department of Gastroenterology, Kanazawa Medical University, Ishikawa 920-0293, Japan.
authors: Ranji
authors: R
authors: Hayashi
authors: Tomomitsu
authors: T
authors: Tahara
authors: Tsukasa
authors: T
authors: Yamaaki
authors: Takashi
authors: T
authors: Saito
authors: Kazuhiro
authors: K
authors: Matsunaga
authors: Nobuhiko
authors: N
authors: Hayashi
authors: Atsushi
authors: A
authors: Fukumura
authors: Kazuaki
authors: K
authors: Ozaki
authors: Masakatsu
authors: M
authors: Nakamura
authors: Hisakazu
authors: H
authors: Shiroeda
authors: Mikihiro
authors: M
authors: Tsutsumi
authors: Tomoyuki
authors: T
authors: Shibata
authors: Tomiyasu
authors: T
authors: Arisawa
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D052002:NF-kappa B p50 Subunit / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012307:Risk Factors
chemical_list: D052002:NF-kappa B p50 Subunit; C489548:NFKB1 protein, human
keywords: Genetic polymorphism; NFKB1; Ulcerative colitis