gene polymorphism and Crohn′s disease in Han population Correlation between interferon regulatory factor 5 ,vitamin D receptor ,beta-defensin 1 ,Toll-like receptor 4 / 中华消化杂志

ABSTRACT

ObjectiveTo investigate the correlation between interferon regulatory factor 5 (IRF5) ,vitamin D receptor (VDR ) ,beta-defensin 1 (DEFB1 ) ,Toll-like receptor 4 (TLR4 ) gene polymorphismand Crohn′s disease (CD) in Chinese Han population .MethodsFrom January 2007 to May 2011 ,thedata and serum samples of 158 CD patients and 246 healthy controls were collected .The genotype of 14tag single-nucleotide polymorphisms (SNP) of IRF5 ,VDR ,DEFB1 and TLR4 were detected .Chi-squaretest was performed for rate comparison between CD group and healthy control group . Multifactordimensionality reduction (MDR) was used to analyze the combined effects of above candidate genes and therelation with susceptibility of CD .ResultsAccording to allele or genotype correlation analysis ,there wasno correlation between IRF5 ,VDR ,DEFB1 ,TLR4 and susceptibility of CD (all P> 0 .05) .The resultsof haplotype correlation analysis indicated that the frequency of GTACC haplotype in IRF5 of CD groupand 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 genotypesof rs2978880 of DEFB1 in CD patients were C/C ,C/T ,T/T ,the frequency of patients with surgery was0 .235 ,0 .603 and 0 .162 ,respectively ,and the frequency of patients without surgery was 0 .482 ,0 .388and 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 betweenabove genes and susceptibility of CD (all P > 0 .05) .ConclusionsThe GTACC haplotype in IRF5 wascorrelated with the susceptibility of CD ,and the C/C genotype of rs2978880 of DEFB1 was correlatedwith CD clinical phenotype in Chinese Han population .