Intestinal Research

Polymorphisms in PRKCDBP, a Transcriptional Target of TNF-α, Are Associated With Inflammatory Bowel Disease in Korean: 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; Intest Res 2015;13(3):242-249. Published online June 9, 2015; DOI: https://doi.org/10.5217/ir.2015.13.3.242

<b>Background/Aims</b><br/>

Emerging 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.

Methods

Genotyping 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.

Results

Heterozygous 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)

Conclusions

Our 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.

Citations

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A Case of Sigmoidorectal Intussusception after Self-Expandable Colonic Stent Placement: Chang Kyun Lee, Hyo Jong Kim, Jae Young Jang, Seok Ho Dong, Byung-Ho Kim, Young Woon Chang, Rin Chang, Hyoung Jung Kim, Kil Yeon Lee; Intest Res 2008;6(1):70-75. Published online June 30, 2008

Abstract PDF: Self-expandable metallic stents are widely used to relieve acute colorectal obstruction that's secondary to malignancy. They are utilized for both palliation and preoperative decompression prior to colorectal surgery. Although stents have been documented as a relatively safe therapeutic modality, procedure-related complications such as perforation, bleeding, stent reobstruction and migration can occur during or after colonic stent placement. Therefore, clinicians must be aware of the various complications associated with colonic stent placement. We present here a very rare case of sigmoidorectal intussusception that developed after fluoroscopic placement of a self-expandable metallic stent for preoperative decompression of sigmoid colon cancer. We misdiagnosed the intussusception as a distal stent migration on the plain radiography. On the sigmoidoscopic examination to evaluate the unrelieved colonic obstruction, we diagnosed a sigmoidorectal intussusception of the stent-implanted malignant tumor. The patient was successfully treated by laparoscopic partial reduction, followed by a curative anterior resection. This case demonstrates that careful examination must be done in cases of unrelieved colonic obstruction with suspicious stent migration, and intussusception must be considered as a rare complication of self-expandable metallic stent placement in the colon. (Intest Res 2008;6:70-75)

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Mutational Analysis of MYH in Patients with Multiple Sporadic Adenomatous Polyps in Korea: Hansoo Kim, Hyo-Jong Kim, Sung-Gil Chi, Gwang-Ro Joo, Seok-Ho Dong, Byung-Ho Kim, Young-Woon Chang, Jung-Il Lee, Rin Chang; Intest Res 2005;3(1):27-32. Published online June 30, 2005

Abstract PDF: Background/Aims
Recently, germ-line mutation in the base-excision-repair gene MYH was identified to cause a novel autosomal recessive form of familial adenomatous polyposis (FAP). Interestingly, a striking evidence for MYH mutations within different ethnic groups has been demonstrated. We have screened 30 patients with multiple adenomatous polyps for MYH mutations to assess its prevalence and ethnic specificity in Korea. Methods: Thirty patients with multiple adenomatous polyps were examined for MYH mutations. Twenty-one men and 9 women presented at a median age of 62.3 years. The mean number of adenomas per patient was 10.0. Sixteen exonic regions and its intronic sequences were amplified by PCR and subjected to SSCP and DNA sequencing analyses. Results: None of the patients was identified to carry any truncating or sequence alterations in MYH. Our screening for the mutational regions, which were recognized from Caucasian patients or affected Indian families, also failed to detect sequence substitutions. Conclusions: Mutation in MYH may be rarely involved in the pathogenesis of multiple sporadic colorectal adenomas in Korea, although large-scale analysis will be required to clarify the presence of specific MYH variants in a subset of patients and its role for the predisposition of multiple colorectal adenomas in Korea. (Intest Res 2005;3:27-32)

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Association of Polymorphism in Monocyte Chemotactic Protein-1 Promoter with Ulcerative Colitis in Korean Population: Hansoo Kim, Hyo-Jong Kim, Joo-Ho Jung, * Gwang-Ro Joo, Seok-Ho Dong, Byung-Ho Kim, Young-Woon Chang, Jung-Il Lee, Rin Chang; Intest Res 2005;3(1):33-37. Published online June 30, 2005

Abstract PDF: Background/Aims
MCP-1 plays a pivotal role in inflammation and host response to infection by attracting mononuclear cells to tissues. Currently, striking evidence has been described that genetic polymorphism in the regulatory region of MCP-1 gene played a role in the pathogenesis of inflammatory bowel diseases. We have studied the expression of MCP-1 in UC patients and healthy controls to assess allelic frequency and genotypic distribution of the polymorphism (A/G) at position -2518 of MCP-1 promoter in patients with UC in Korean population. Methods: Forty-four patients, who were diagnosed with ulcerative colitis by endoscopic biopsy at Gastroenterology Clinic in Kyung Hee University Medical Center, and two hundred and forty-six healthy subjects were genotyped by polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP). We compared the genotypes and allelic frequency of UC patients and controls. Results: Forty-four UC patients (32 males and 12 females: mean age, 48.0⁑13.6, range 28-80) and two hundred and forty-six healthy control subjects (80 males and 166 females: mean age, 51.0⁑12.6, range 30-81) were enrolled. G allele frequency in patients and controls were 45.55% and 60.13%, respectively. When the observed control and patient genotype frequencies were compared with expected values using 3⁓2 contingency table in the standard chi-square test, the genotype distributions in -2518 (A/G) of MCP-1 promoter for UC patients was significantly different (χ²=6.298, p=0.043). Compared with control data using 2⁓2 contingency table in the standard chi-square test, the frequency of A and G allele was also significantly different in UC patients (χ²= 6.626, OR=1.812, 95% CI=1.148-2.862, p=0.01). Conclusions: Genotype distributions and allelic frequencies in polymorphism of MCP-1 (-2518, A/G) were significantly different between UC patients and controls. This result is not consistent with previously reported frequency in Caucasian populations, which suggests the possible genetic heterogeneity between different ethnical groups in MCP-1 polymorphism. Larger-scale analysis on MCP-1 polymorphism from different ethnic patients is necessary to identify this issue. (Intest Res 2005;3:33-37)

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A Roles of Apoptotic Genes in Colon Cancers: Jae Young Jang, Hyo Jong Kim, Sung-Gil Chi, Kil Yeon Lee, Ki Deuk Nam, Nam Hoon Kim, Sang Kil Lee, Kwang Ro Joo, Seok Ho Dong, Byung-Ho Kim, Young Woon Chang, Joung Il Lee, Rin Chang; Intest Res 2004;2(2):71-76. Published online December 22, 2004

Abstract PDF: Badkground/Aims: X-linked inhibitor of apoptosis (XIAP) is the most potent member of the IAP family that exerts antiapoptotic effects. Recently, XIAP-associated factor 1 (XAF1) and two mitochondrial proteins, Smac/DIABLO and HtrA2, have been identified to negatively regulate the caspase-inhibiting activity of XIAP. We explored the candidacy of XAF1, Smac/DIABLO and HtrA2 as a tumor suppressor in colonic carcinogenesis. Methods: The expression and mutation status of the genes were assessed in 10 colorectal carcinoma cell lines. Results: XAF1 transcript was not expressed or present at extremely low levels in 60% (6/10) of cancer cell lines whereas Smac/DIABLO and HtrA2 are normally expressed in all cell lines examined. XAF1 transcript was reactivated in all low expressor cell lines by treatment with the demethylating agent 5-aza-2'-deoxycytidine. Moreover, bisulfite DNA sequencing analysis for 34 CpG sites in the promoter region revealed a strong association between hypermethylation and gene silencing. Restoration of XAF1 expression resulted in enhanced apoptotic response to etoposide and 5-flurouracil. Conclusions: XAF1 undergoes epigenetic gene silencing in a considerable proportion of human colon cancers by aberrant promoter hypermethylation, suggesting that XAF1 inactivation might be implicated in colonic tumorigenesis. (Intestinal Research 2004;2:71-76)

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A Case of APC, MMR, MYH negative Turcot's Syndrome: Han Soo Kim, Hyo Jong Kim, Sung-Gil Chi, Ki-Duk Nam, Jae-Young Jang, Nam-Hun Kim, Sang-Kil Lee, Kwang-Ro Joo, Seok-Ho Dong, Byung-Ho Kim, Young-Woon Chang, Joung-Il Lee, Rin Chang; Intest Res 2004;2(2):113-119. Published online December 22, 2004

Abstract PDF: Turcot's syndrome, clinically characterized by the coincident occurrence of primary tumors of the colon and the central nervous system (CNS) typically a glioblastoma or a medulloblastoma, can genetically be divided into two syndromes: familial adenomatous polyposis (FAP) and hereditary nonpolyposis colon carcinoma (HNPCC). We previously have reported the first case of Turcot's syndrome in Korea associated with cerebral oligodendroglioma. We also have performed genetic analyses of this patient and her family to determine the genetic variants, including mutations in APC gene and mismatch repair gene, in Turcot's syndrome. Recently, germ-line mutation in the base- excision-repair gene MYH was identified to cause a novel autosomal recessive form of FAP. The discovery of MYH polyposis suggests that patients with FAP phenotype, and with a negative APC gene will need genetic testing for MYH mutation. Interestingly, a striking evidence for specific MYH mutations within different ethnic groups has been noted. Therefore, we have analyzed an APC-negative patient with Turcot's syndrome for mutation in MYH gene to assess its possible prevalence and ethnic specificity in Korea. (Intestinal Research 2004;2:113-119)

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A Case of Small Bowel Bleeding not Being Found by Capsule Endoscopy: Myung Ryul Lee, Hyo Jong Kim, Sang Kil Lee, Nam Hoon Kim, Jae Young Chang, Kwang Ro Joo, Seok Ho Dong, Byung-Ho Kim, Young Woon Chang, Joung Il Lee, Rin Chang; Intest Res 2004;2(1):40-42. Published online April 16, 2004

Abstract PDF: Diagnostic tool for the study of patients with obscure gastrointestinal bleeding is not confirmed. Recently,capsule endoscopy was used to the effective diagnostic tool for patients with obscure gastrointestinaI bleeding, and was well tolerated and better accepted by patient. But the diagnostic result of this technique has not been adequately studied. We reported a case of finding small bowel beeding due to intraoperative endoscopy with negative capsule endoscopic result. (Intestinal Research 2004;2:40-42)

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