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-449 C>G polymorphism of NFKB1 gene,coding nuclear factor-kappa-B,is associated with the susceptibility to ulcerative colitis

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World Journal of Gastroenterology 2012年第47期18卷 6981-6986页

作者： 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 Department of Gastroenterology Kanazawa Medical UniversityIshikawa 920-0293Japan Department of Gastroenterology Fujita Health University1-98 Dengakugakubo Katsukake-ChoToyoakeAichi 470-1192Japan

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 ***: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 *** 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 *** polymorphism influences the susceptibility to and pathophysiological features of UC.

关键词： Genetic polymorphism NFKB1 Ulcerativecolitis

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Genetic polymorphisms of MAFK, encoding a small Maf protein, are associated with susceptibility to ulcerative colitis in Japan

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World Journal of Gastroenterology 2017年第29期23卷 5364-5370页

作者： Tomiyasu Arisawa Masakatsu Nakamura Toshimi Otsuka Wu Jing Naoko Sakurai Hikaru Takano Tasuku hayashi Masafumi Ota Tomoe Nomura ranji hayashi Takeo Shimasaki Tomomitsu Tahara Tomoyuki Shibata Department of Gastroenterology Kanazawa Medical University Department of Gastroenterology Fujita Health University

To investigate whether single nucleotide polymorphisms in maf protein K (MAFK), which encodes the MAFK, lead to increased susceptibility to ulcerative colitis in the Japanese population. METHODSThis case control study examined the associations between MAFK single nucleotide polymorphisms (rs4268033 G>A, rs3735656 T>C and rs10226620 C>T) and ulcerative colitis susceptibility in 174 patients with ulcerative colitis (UC) cases, and 748 subjects without no lower abdominal symptoms, diarrhea or hematochezia (controls). In addition, as the second controls, we set 360 subjects, who have an irregular bowel movement without abnormal lower endoscopic findings (IBM controls). RESULTSThe genotype frequency of rs4268033 AA and allelic frequency of the rs4268033A allele were significantly higher in the UC cases than in both controls (P = 0.0005 and < 0.0001, P = 0.015 and 0.0027 vs controls and IBM controls, respectively). Logistic regression analysis after adjustment for age and gender showed that the rs4268033 AA and rs3735656 CC genotypes were significantly associated with susceptibility to UC development (OR = 2.63, 95%CI: 1.61-4.30, P = 0.0001 and OR = 1.81; 95%CI: 1.12-2.94, P = 0.015, respectively). Similar findings were observed by the comparison with IBM controls. In addition, the rs4268033 AA genotype was significantly associated with all phenotypes of UC except early onset. There was no significant association between rs10226620 and ulcerative colitis. CONCLUSIONOur results provide the first evidence that MAFK genetic polymorphisms are significantly associated with susceptibility to UC development. In particular, rs4268033 is closely associated with an increased risk for the development of UC.

关键词： Maf protein K Genetic polymorphism Reactive oxygen species Ulcerative colitis Nuclear factor-erythroid 2-related factor 2

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