提要：

The association studies from different ethnic groups showed that receptor () gene polymorphisms might be connected with the susceptibility to (UC); however, the conclusions were less consistent. Our study aimed to analyze the associations of UC with common mutations of in Chinese patients. A total of 382 UC patients and 489 healthy controls were recruited. The genotypes of FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236) were examined by SNaPshot assays. Haplotype analysis was performed in all study subjects. After Bonferroni correction, the mutant alleles and genotypes of FokI, BsmI, ApaI and TaqI did not statistically differ between UC patients and the controls (all p>0.0125). However, the mutant allele C and genotype TC+CC of FokI gene were significantly increased in patients with mild and moderate UC compared to those with severe UC (C allele: 54.1% versus 39.3%, OR=1.83, 95% CI: 1.21-2.75, p=0.004; TC+CC genotype: 81.6% versus 57.1%, OR=3.32, 95% CI: 1.83-6.06, p<0.001, respectively). Haplotype analysis showed that the BsmI, ApaI and TaqI polymorphic loci were in a strong linkage disequilibrium. Furthermore, the frequency of haplotype was statistically lower in UC patients than that in the controls (3.8 versus 5.9%, OR=0.63, 95% CI: 0.39-1.01, p=0.039). In conclusion, the mutation of FokI gene influenced severity of the disease in UC patients. Moreover, the haplotype formed by the BsmI, ApaI and TaqI gene might engender a reduced risk of UC attack.

展开