Association Of The PRKCDBP Gene Polymorphism In The Chinese Han Population With Inflammatory Bowel Disease

Background: Inflammatory bowel disease(IBD) is a group of chronic non-specific intestinal inflammatory diseases, including Crohn’s disease and ulcerative colitis, characterized by remitting and relapsing inflammation of the bowel. The disease was first found in northern Europe and North America, then reported in Western Europe, southern Europe, Japan and other countries around the world. In recent years, with the development of endoscopic technique in our country, the incidence of IBD are increasing in China. IBD had been regarded as a kind of autoimmune disease in the past, and multiple studies have shown that IBD can be induced under the role of environmemtal factors and autoimmune disorders for the host who carry the genetic susceptibility gene. Accumulating genes were found associated with IBD since Hugot Research Group and Ogura Research Group found the first CD susceptibility genes( NOD2, also called CARD15) in 2001.Objective: To investigate whether the single nucleotide polymorphism(SNP) of PRKCCDBP gene are associated with inflammatory bowel disease(IBD) in the Han population of China.Methods: Genomic DNA from 131 individuals of Chinese Han origin including 81 patients with IBD and 50 healthy controls was analyzed for the SNP(rs1051992) of the PRKCDBP gene. SNP rs1051992 was genotyped by restriction fragment length polymorphism-polymerase chain reaction(RFLP-PCR) and verified by DNA sequence analysis. A Chi-square test or Fisher’s exact test was used to determine the association of SNP with IBD. And the correlation between the genotypes of rs1051992 and the clinical features of patients with IBD was analyzed.Results: The genotype and allele frequencies at PRKCDBP SNP of rs1051992 of CD patients, UC patients and normal controls were in Hardy-Weinberg equilibrium. There were no significant differences in the genotype and allele frequencies among CD patients, UC patients and normal controls(P>0.05). Genotype-clicinal data analysis suggested that genotype distribution of CD patients was associated with gender. The CT genotype increased the risk of male patients with CD(P<0.05,OR=12.8,95%CI:2.095-78.597). No significant difference was observed among disease location, disease behavior, perianal lesions of CD patients and gender, disease distribution of UC patients(P>0.05).Conclusion: The CT heterozygous genotype of rs1051992 in PRKCDBP gene increased the risk of male patients with CD. Gene polymorphism of PRKCDBP may be associated with male patients with CD in Chinese Han population.