Correlation between interferon regulatory factor 5, vitamin D receptor, beta-defensin 1, Toll-like receptor 4 gene polymorphism and Crohn's disease in Han population

Abstract

Objective To investigate the correlation between interferon regulatory factor 5 (IRF5), vitamin D receptor (VDR), beta-defensin 1(DEFB1), Toll-like receptor 4(TLR4) gene polymorphism and Crohn's disease (CD) in Chinese Han population. Methods From January 2007 to May 2011, the data and serum samples of 158 CD patients and 246 healthy controls were collected. The genotype of 14 tag single-nucleotide polymorphisms (SNP) of IRF5, VDR, DEFB1 and TLR4 were detected. Chi-square test was performed for rate comparison between CD group and healthy control group. Multifactor dimensionality reduction (MDR) was used to analyze the combined effects of above candidate genes and the relation with susceptibility of CD. Results According to allele or genotype correlation analysis, there was no correlation between IRF5, VDR, DEFB1, TLR4 and susceptibility of CD (all P>0.05). The results of haplotype correlation analysis indicated that the frequency of GTACC haplotype in IRF5 of CD group and healthy control group was 0.046 and 0.089, respectively, the difference was statistically significant (χ2=5.223, P=0.022 3). The results of genotype and clinical type analysis indicated that the genotypes of rs2978880 of DEFB1 in CD patients were C/C, C/T, T/T, the frequency of patients with surgery was 0.235, 0.603 and 0.162, respectively, and the frequency of patients without surgery was 0.482, 0.388 and 0.129, respectively. The risk of intestinal surgery in patients with C/C genotype was lower (χ2=10.065, P=0.006). The results of MDR analysis indicated that no interactions were detected between above genes and susceptibility of CD (all P>0.05). Conclusions The GTACC haplotype in IRF5 was correlated with the susceptibility of CD, and the C/C genotype of rs2978880 of DEFB1 was correlated with CD clinical phenotype in Chinese Han population. Key words: Crohn disease; Polymorphism; Interferon regulatory factor 5; Receptors, calcitriol; Beta-defensin 1; Toll-like receptor 4