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KMID : 0356720020180030163
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Journal of the Korean Society of Coloproctology
2002 Volume.18 No. 3 p.163 ~ p.171
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Polymorphisms of the 5’-Flanking Region of the Human Tumor Necrosis Factor-alpha Gene in Korean Patients with Crohn’s Disease
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Lee Kil-Yeon
Kim Hyo-Jong
Chi Sung-Gil
Oh Soo-Myung
Yoon Choong
Lee Kee-Hyung
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Abstract
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Purpose: Recently, a key role of tumor necrosis factor (TNF) in the development of inflammatory bowel disease (IBD), especially Crohn’s disease (CD), has emerged. In Japan, 3 single base pair polymorphisms in the 5’-flanking region of the TNF-α gene at position -1031, -863, and -857, which are related to high transcriptional promoter activity, have been identified in the Japanese CD patients. And the polymorphisms of the TNF-α gene at position -308, -238 have been reported in western CD patients. So, in order to find the same polymorphisms in Korean population and CD patients, the author evaluate the patients diagnosed with CD, ulcerative colitis (UC) and healthy controls (HCs).
Methods: Blood samples were obtained from 70 patients with CD, 72 patients with UC and 52 healthy controls. Polymorphisms in the TNF-α gene at their respective positions were analyzed by single strand conformational polymorphism (SSCP), and allele frequencies in CD & UC patients were compared with those in healthy controls.
Results: Allele frequencies of -1031C, -863A, and -857T in health controls were 18.3%, 8.7%, and 19.2%, respectively. Polymorphic allele frequencies of -1031C, -863A, -857T were 22.9%, 27.1%, and 24.3% in CD patients respectively. The frequencies at all 3 positions were higher in CD patients than in HCs. However, the frequency at -863A was statistically significant (P=0.000). The allele frequencies of -308A and 238A alleles were 0.7% and 3.6% in CD, 0.7% and 2.1% in UC, and 1.9% and 4.8% in HCs, respectively. The allele frequency of -1031C was significantly higher in B3 than in B2 (P=0.033).
Conclusions: Polymorphisms of 5’-flanking region of the TNF-α at positions -1031 (T/C), 863 (C/A) and -857 (C/T) may be associated with susceptibility of CD.
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KEYWORD
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TNF-α gene, Polymorphism, Crohn’s disease (CD), Korea
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