ABSTRACT
Objective To explore the association between death receptor (DR) 4 gene polymorphism and the predis-position of ulcerative colitis(UC). Methods DR4(rs20575)genotypes were determined by direct sequencing in a total of 147 UC patients and 244 healthy controls. Logistic regression analysis was employed to assess the relationship be-tween DR4 (rs20575)gene polymorphism and UC. Results Compared to the controls, the frequencies of variant allele(G)and genotype(CG+GG) of DR4(rs20575)were significantly increased in UC patients(5.78% vs 1.23%,P=0.001,OR=4.930,95%CI1.192-12.651;7.48% vs 2.46%,P=0.025,OR=3.208,95%CI1.161-8.869). According to the Tru-elove &Witt Activity Index, the severity of UC was further stratified into the mild, moderate and severe disease. In re-sult, variant allele (G)and genotype(CG+GG)in DR4(rs20575)were significantly higher in patients with moderate and severe UC than those with mild UC (10.64% vs 3.50%,P=0.020,OR=3.282,95%CI1.208-8.916; 14.89% vs 4.00%,P=0.028,OR=4.200,95%CI1.165-15.146). DR4(rs20575) mutant allele and genotype frequencies between extensive colitis and distal colitis were no statistical difference(P>0.05). Conclusion The genetic polymorphism of DR4(rs20575)is significantly related with the susceptibility to UC, as well as severity of the disease in this cohort of Chinese pa-tients.
ABSTRACT
Objective To investigate the association between the genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and ulcerative colitis (UC) of Han ethnic population in Zhejiang, China. Methods Two hundred and seventy-four consecutive patients with UC and 726 healthy controls (HC) were studied. The genetic polymorphisms of MTHFR (C677T and A1298C) were genotyped using PCR-RELP methods. Results The frequencies of variant allele and genotype in MTHFR A1298Cgene were higher in UC patients than in the HC (35.77% vs 29. 96%, P =0. 013; 52. 19% vs 44. 90%,P=0.039; respectively). However, there were no significant discrepancies of the allele and genotype frequencies in the MTHFR C677T gene between the UC patients and the HC (P ＞ 0. 05 ). In addition, the MTHFR 677Tr homozygote, T allele and 677CT/1298AC compound genotype were more prevalent in patients with extensive colitis than in those with distal colitis (37. 66% vs 14. 72% ,P = 0. 0002; 49. 35% vs 32.99% ,P =0. 0004; 29. 87% vs 15.23% ,P =0. 006; respectively). Furthermore,the variant allele in the MTHFR A1298C gene (C) in severe UC patients was significantly lower than in mild and moderate UC patients (18.97% vs 33. 88% ,P =0. 022). Conclusion The genetic polymorphisms of MTHFR C677T and A1298C are obviously associated with Han ethnic population with UC in Zhejiang province.