ABSTRACT
Objective To study the correlation between vitamin D receptor (VDR) gene polymorphism and the risk of colorectal cancer.Methods Three hundred and fifty patients with colorectal cancer treated in our hospital from May 2013 to August 2016 were randomly selected as the study group,and 350 healthy subjects were recruited in this study.The genomic DNA was extracted from peripheral blood of all subjects.Twenty-nine VDR single nucleotide polymorphisms (SNPs) were selected and genotyped,and the plasma vitamin D concentration was measured.Logistic regression model was used to evaluate the odds ratio (OR) and 95％ confidence interval (CI) of colorectal cancer.Results Rs2254210,rs1540339,rs2107301,rs11168267,rs11574113,rs731236,rs3847987 and rs11574143 VDR SNPs were associated with the risk of colorectal cancer (P ＜ 0.05),and the risk of colorectal cancer was significantly higher than that of colorectal cancer (P ＜ 0.05).The SNPs of rs11574113,rs3847987 and rs11574143 were more correlated with the risk of colorectal cancer in people with higher plasma vitamin D concentrations.There was a significant difference in the proportion of patients with genotype at different levels of plasma vitamin D in the rs7968585 locus (P ＜ 0.05).Conclusion The polymorphism of vitamin D receptor gene has a certain correlation with the risk of colorectal cancer,and the detection of vitamin D gene polymorphism has a certain significance for predicting the occurrence of colorectal cancer and guiding clinical medicine.
ABSTRACT
<p><b>OBJECTIVE</b>To assess the association of inflammatory bowel disease with polymorphisms and haplotypes of Fucosyltransferase 3 (FUT3) gene.</p><p><b>METHODS</b>A total of 389 patients with ulcerative colitis (UC), 274 patients with Crohn's disease (CD), and 492 controls were collected. Three single nucleotide polymorphisms (SNPs) of the FUT3 gene (rs28362459, rs3745635 and rs3894326) were determined by direct sequencing. Linkage disequilibrium and haplotype analysis were performed using a Haploview 4.2 software.</p><p><b>RESULTS</b>Compared with the controls, the allele and genotype distributions of FUT3 gene did not significantly differ between the UC and CD groups (all P>0.05). By stratified analysis, the mutant allele (A) and genotype (GA+AA) of the FUT3 gene (rs3745635) were significantly increased in the UC group with distal colitis compared with the controls (P<0.01, P<0.05, respectively). The mutant allele (G) and genotype (TG+GG) of the FUT3 gene (rs28362459) as well as the mutant allele (A) of FUT3(rs3745635) were significantly increased in patients with ileocolonic CD and ileal CD as compared with the controls (P<0.05, P<0.01, P<0.05, respectively). The frequency of mutant allele (G) of FUT3(rs28362459) was higher in stricturing CD patients than in the controls (P<0.05). In addition, the three polymorphic loci of FUT3 gene were shown in complete linkage disequilibrium [rs3894326/rs3745635 (D'=1.0, r2=0.017), rs3894326/rs28362459 (D'=0.937, r2=0.311), rs3745635/rs28362459 (D'=0.944, r2=0.448)]. However, the frequency of each haplotype was not significantly different between the UC and CD groups compared with the controls (all P>0.05).</p><p><b>CONCLUSION</b>FUT3 (rs3745635) mutation may increase the risk of distal colitis. FUT3 (rs28362459 and rs3745635) mutations may engender the increased risk of ileocolonic and ileal CD. Moreover, FUT3 (rs28362459) polymorphism may influence the incidence of stricturing CD.</p>