1.The associations of methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms and ulcerative colitis
Changlong XU ; Xiuqing LIN ; Deyun LAN ; Jianzhang WANG ; Bo ZHENG ; Zhanxiong XUE
Chinese Journal of Internal Medicine 2011;50(5):374-377
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.
2.Association between death receptor DR4 gene polymorphism and the pre-disposition of ulcerative colitis
Deyun LAN ; Junqiang JIAO ; Yongbo WANG ; Xueyu TAO
China Modern Doctor 2015;(15):4-7
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.