Brief Article
Copyright ©2012 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Dec 21, 2012; 18(47): 6981-6986
Published online Dec 21, 2012. doi: 10.3748/wjg.v18.i47.6981
-449 C>G polymorphism of NFKB1 gene, coding nuclear factor-kappa-B, is associated with the susceptibility to ulcerative colitis
Ranji Hayashi, Tomomitsu Tahara, Tsukasa Yamaaki, Takashi Saito, Kazuhiro Matsunaga, Nobuhiko Hayashi, Atsushi Fukumura, Kazuaki Ozaki, Masakatsu Nakamura, Hisakazu Shiroeda, Mikihiro Tsutsumi, Tomoyuki Shibata, Tomiyasu Arisawa
Ranji Hayashi, Tsukasa Yamaaki, Takashi Saito, Kazuhiro Matsunaga, Nobuhiko Hayashi, Atsushi Fukumura, Kazuaki Ozaki, Masakatsu Nakamura, Hisakazu Shiroeda, Mikihiro Tsutsumi, Tomiyasu Arisawa, Department of Gastroenterology, Kanazawa Medical University, Ishikawa 920-0293, Japan
Tomomitsu Tahara, Tomoyuki Shibata, Department of Gastroenterology, Fujita Health University, 1-98 Dengakugakubo Katsukake-Cho, Toyoake, Aichi 470-1192, Japan
Author contributions: Hayashi R analyzed the data, wrote the paper and was responsible for the conception and design of the study; Arisawa T participated in the design of the study; Tahara T, together with Yamaaki T, Saito T, Matsunaga K, Hayashi N, Fukumura A, Ozaki K, Nakamura M, Shiroeda H, Tsutsumi M and Shibata T obtained the samples and the data.
Supported by Grant for Specially Promoted Research from Kanazawa Medical University (SR2012-01)
Correspondence to: Tomiyasu Arisawa, MD, Professor, Department of Gastroenterology, Kanazawa Medical University, 1-1, Daigaku, Uchinada-machi, Ishikawa 920-0293, Japan. tarisawa@kanazawa-med.ac.jp
Telephone: +81-76-2188154 Fax: +81-76-2860892
Received: May 31, 2012
Revised: July 26, 2012
Accepted: August 15, 2012
Published online: December 21, 2012
Abstract

AIM: 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).

CONCLUSION: 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.

Keywords: Genetic polymorphism, NFKB1, Ulcerative colitis