Polymorphisms in , a Transcriptional Target of TNF-α, Are Associated With Inflammatory Bowel Disease in Korean

• Main Authors: Jung-Wook Kim, Chang Kyun Lee, Hyo Jong Kim, Jae-Jun Shim, Jae Young Jang, Seok Ho Dong, Byung-Ho Kim, Young Woon Chang, Sung-Gil Chi
• Format: Article
• Language: English
• Published: Korean Association for the Study of Intestinal Diseases 2015-07-01
• Series: Intestinal Research
• Subjects: Polymorphisms, single nucleotide; Crohn disease; Colitis, ulcerative
• Online Access: http://www.irjournal.org/upload/pdf/ir-13-242.pdf

Background/AimsEmerging data indicate that polymorphic sequence variations in the tumor necrosis factor alpha (TNF-α) gene may affect its production, and be associated with the risk of inflammatory bowel disease (IBD). PRKCDBP is a putative tumor suppressor gene and a transcriptional target of TNF-α. The aim of this case-control study is to explore the possible association of single nucleotide polymorphisms (SNPs) in PRKCDBP with the development of IBD in Koreans.MethodsGenotyping analysis of four SNPs of PRKCDBP [rs35301211 (G210A), rs11544766 (G237C), rs12294600 (C797T), and rs1051992 (T507C)] was performed on 170 ulcerative colitis (UC),131 Crohn's disease (CD) patients, and 100 unrelated healthy controls using polymerase chain reaction and restriction fragment length polymorphism.ResultsHeterozygous configuration of three SNPs (G210A, G237C, and C797T) was very rare in both patients and healthy controls. However, allele frequencies of the T507C SNP showed a significant difference between UC patients and controls (P=0.037). The CC genotype of the T507C SNP was identified in 46.6% (61 of 131) of CD and 49.4% (84 of 170) of UC patients, but only in 33.0% (33 of 100) of healthy controls. Furthermore, CC homozygosity was more prevalent than TC heterozygosity in both CD and UC patients versus controls (P=0.016; gender-adjusted odds ratio [aOR], 2.16; 95% confidence interval [CI], 1.16-4.04 and P=0.009; aOR, 2.09; 95% CI, 1.193.64; respectively)ConclusionsOur results suggest that the T507C SNP in PRKCDBP, a TNF-α-inducible gene, might be associated with susceptibility to IBD (particularly UC) development in Koreans.