대한대장항문학회

<b>Purpose:</b> 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<br>TNF-α<br>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<br>CD<br>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).<br><br><b>Methods:</b> 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),<br>and<br>allele frequencies in CD & UC patients were compared with those in healthy controls.<br><br><b>Results:</b> 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<br>frequencies<br>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%<br>in<br>HCs,<br>respectively. The allele frequency of -1031C was significantly higher in B3 than in B2 (P=0.033).<br><br><b>Conclusions:</b> 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.<br>