ABSTRACT
<p><b>OBJECTIVE</b>To assess the association of vascular endothelial growth factor (VEGF) gene polymorphisms with susceptibility to Crohn's disease (CD) in a Chinese population.</p><p><b>METHODS</b>For 275 CD patients and 495 controls, the genotypes of VEGF gene rs699947 and rs3025039 loci were determined with a SNaPshot method.</p><p><b>RESULTS</b>The allelic and genotypic frequencies of the rs699947 and rs3025039 loci did not differ between the two groups (all P>0.05). By stratification analysis, allele A and genotype CA+AA of rs699947 were more frequent in patients with colonic CD compared with the controls (P=0.006, 95%CI:1.143-2.234; P=0.005, 95%CI:1.203-2.900, respectively). Compared with the controls, the allele A and genotype CA+AA of rs699947 were less frequent in patients with ileal lesions including ileal CD and ileocolonic CD (P=0.033, 95%CI:0.524-0.974;P=0.043, 95%CI:0.481-0.989, respectively). The frequency of TT homozygote of rs3025039 was lower in patients with non-stricturing and non-penetrating CD compared with the controls (P=0.036, 95%CI:0.016-0.870).</p><p><b>CONCLUSION</b>Polymorphisms of the VEGF gene rs699947 locus may contribute to an increased risk for colonic CD, but may play a protective role in patients with ileal lesion. Individuals carrying the TT genotype for VEGF rs3025039 locus may be less susceptible to non-stricturing and non-penetrating CD.</p>
ABSTRACT
Objective To analyze the association of Crohn's disease(CD)with vitamin D receptor(VDR) gene polymorphisms. Methods After collecting 326 CD patients and 464 healthy controls,the four single nucleotide polymorphisms of VDR (FokI, BsmI, ApaI and TaqI) were examined by a SNaPshot technique. Results Compared with those in controls,the frequencies of mutant allele(A)and genotype(GA+AA)of BsmI were significantly decreased in CD patients(both P=0.001). The similar conclusions were also drawn for the mutant allele(C)and genotype(TC+CC)of TaqI(both P<0.05). In further stratified analysis,compared with those in controls,the mutant alleles and genotypes of BsmI and TaqI were significantly reduced in stenotic type CD patients (all P<0.0083). The analyses of linkage disequilibrium(LD)and haplotype showed that BsmI,ApaI and TaqI were in a strong LD,and the formed haplotype AAC was significantly lower in CD patients than that in controls (P <0.05). Conclusions VDR(BsmI and TaqI)polymorphisms are significantly related with the reduced susceptibility to CD,especially for patients with stenotic CD. Moreover,the haplotype AAC might engender a reduced risk of CD.
ABSTRACT
Objective To explore the association between genetic polymorphisms and haplotypes of tumor necrosis factor-related apoptosis inducing ligand (Trail) and ulcerative colitis (UC).Methods A total of 331 patients with UC and 832 age and sex-matched healthy controls were collected.After Trail gene was amplified by PCR,the genetic polymorphisms of three single nucleotides (G1525A/G1588A/C1595T) in 3' non coding regions of Trail gene were examined by direct sequencing.The relation between Trail haplotype and UC was analyzed.Results Compared with control group,the frequencies of variant allele A and genotype GA+ AA in Trail G1525A were significantly lower in UC group (both P＜0.01).The frequencies of variant allele A and T in Trail G1588A and C1595T were also significantly lower in UC group than that of control group,and the difference was statistically significant (both P ＜ 0.01 ).In mild and moderate UC patients,the frequencies of variant allele T and CT+TT in Trail C1595T were 49.15％ and 64.51％,in severe UC patients were 72.37％ and 84.21％,and the differences were significant between the two groups (OR=2.710 and 2.935,95％CI:1.598～4.596 and 1.188～7.249,all P ＜0.05).In severe UC patients,the frequency of variant allele A in Trail G1525A was 48.69％,which was higher than that of mild and moderate patients (35.16％,OR=1.750,95％CI:1.082～2.830,P=0.021).In UC group,the frequency of AAT haplotype was significantly lower than that of controls (43.09％ vs 58.41％,P＜0.01).The frequency of GAT haplotype was significantly higher in UC group (10.15％vs 0.18％,95％ CI:0.005 ～ 0.051,P＜ 0.01).Conclusion The genetic polymorphisms and haplotypes of Trail (G1525A/G1588A/C1595T) gene may be closely correlated with the susceptibility to UC.
