Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese

AIM: To examine an association between the cytotoxic Tlymphocyte antigen 4 (CTLA4) gene that plays a role in downregulation of T-cell activation and inflammatory bowel disease consisting of ulcerative colitis (UC) and Crohn's disease (CD) in the Japanese.METHODS: We studied 108 patients with UC, 79...

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Veröffentlicht in:World journal of gastroenterology : WJG 2005-07, Vol.11 (27), p.4188-4193
Hauptverfasser: Machida, Haruhisa, Tsukamoto, Kazuhiro, Wen, Chun-Yang, Narumi, Yukiko, Shikuwa, Saburou, Isomoto, Hajime, Takeshima, Fuminao, Mizuta, Yohei, Niikawa, Norio, Murata, Ikuo, Kohno, Shigeru
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container_end_page 4193
container_issue 27
container_start_page 4188
container_title World journal of gastroenterology : WJG
container_volume 11
creator Machida, Haruhisa
Tsukamoto, Kazuhiro
Wen, Chun-Yang
Narumi, Yukiko
Shikuwa, Saburou
Isomoto, Hajime
Takeshima, Fuminao
Mizuta, Yohei
Niikawa, Norio
Murata, Ikuo
Kohno, Shigeru
description AIM: To examine an association between the cytotoxic Tlymphocyte antigen 4 (CTLA4) gene that plays a role in downregulation of T-cell activation and inflammatory bowel disease consisting of ulcerative colitis (UC) and Crohn's disease (CD) in the Japanese.METHODS: We studied 108 patients with UC, 79 patients with CD, and 200 sex-matched healthy controls, with respect to three single nucleotide polymorphisms (SNPs) in CTLA4, such as C-318T in the promoter region, A+49 Gin exon 1 and G+6230A in the 3' untranslated region (3'-UTR) by a PCR-restriction fragment length polymorphism method, and to an (AT), repeat polymorphism in 3'-UTR by fragment analysis with fluorescence-labeling on denaturing sequence gels. Frequency of alleles and genotypes and their distribution were compared statistically between patients and controls and among subgroups of patients, using X^2 and Fisher exact tests.RESULTS: The frequency of "A/A" genotype at the G+6230A SNP site was statistically lower in UC patients than in controls (3.7% vs 11.0%, P = 0.047, odds ratio (OR) = 0.311). Moreover, the frequency of "G/G" genotype at the A+49G SNP site was significantly higher in CD patients with fistula (48.6%) than those without it (26.2%)(P = 0.0388, OR=2.67).CONCLUSION: The results suggest that CTLA4 located at 2q33 is a determinant of UC and responsible for fistula formation in CD in the Japanese.
doi_str_mv 10.3748/wjg.v11.i27.4188
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Frequency of alleles and genotypes and their distribution were compared statistically between patients and controls and among subgroups of patients, using X^2 and Fisher exact tests.RESULTS: The frequency of "A/A" genotype at the G+6230A SNP site was statistically lower in UC patients than in controls (3.7% vs 11.0%, P = 0.047, odds ratio (OR) = 0.311). Moreover, the frequency of "G/G" genotype at the A+49G SNP site was significantly higher in CD patients with fistula (48.6%) than those without it (26.2%)(P = 0.0388, OR=2.67).CONCLUSION: The results suggest that CTLA4 located at 2q33 is a determinant of UC and responsible for fistula formation in CD in the Japanese.</description><identifier>ISSN: 1007-9327</identifier><identifier>EISSN: 2219-2840</identifier><identifier>DOI: 10.3748/wjg.v11.i27.4188</identifier><identifier>PMID: 16015687</identifier><language>eng</language><publisher>United States: Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan%Department of Pharmacotherapeutics, Nagasaki University Graduate School of Biomedical Sciences, 1-14 Bunkyo-machi, Nagasaki 852-8521,Japan%Department of Molecular Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523,Japan%Department of Gastroenterology, National Hospital Organization Nagasaki Medical Center, 2-1001-1 Kubara,Omura 856-8562, Japan%Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antigens, CD ; Antigens, Differentiation - genetics ; Clinical Research ; Colitis, Ulcerative - genetics ; Crohn Disease - genetics ; CTLA-4 Antigen ; CTLA4 ; Female ; Gene Frequency ; Genotype ; Humans ; Japan ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; 基因多态性 ; 疾病调查 ; 等位基因</subject><ispartof>World journal of gastroenterology : WJG, 2005-07, Vol.11 (27), p.4188-4193</ispartof><rights>Copyright © Wanfang Data Co. Ltd. All Rights Reserved.</rights><rights>The Author(s) 2005. Published by Baishideng Publishing Group Inc. All rights reserved. 2005</rights><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c450t-cf9d233df051b76638b454dba3970f9dd8bf3074ac44cfd1748edad25a09d2503</citedby><cites>FETCH-LOGICAL-c450t-cf9d233df051b76638b454dba3970f9dd8bf3074ac44cfd1748edad25a09d2503</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://image.cqvip.com/vip1000/qk/84123X/84123X.jpg</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4615440/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4615440/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,724,777,781,882,27905,27906,53772,53774</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16015687$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Machida, Haruhisa</creatorcontrib><creatorcontrib>Tsukamoto, Kazuhiro</creatorcontrib><creatorcontrib>Wen, Chun-Yang</creatorcontrib><creatorcontrib>Narumi, Yukiko</creatorcontrib><creatorcontrib>Shikuwa, Saburou</creatorcontrib><creatorcontrib>Isomoto, Hajime</creatorcontrib><creatorcontrib>Takeshima, Fuminao</creatorcontrib><creatorcontrib>Mizuta, Yohei</creatorcontrib><creatorcontrib>Niikawa, Norio</creatorcontrib><creatorcontrib>Murata, Ikuo</creatorcontrib><creatorcontrib>Kohno, Shigeru</creatorcontrib><title>Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese</title><title>World journal of gastroenterology : WJG</title><addtitle>World Journal of Gastroenterology</addtitle><description>AIM: To examine an association between the cytotoxic Tlymphocyte antigen 4 (CTLA4) gene that plays a role in downregulation of T-cell activation and inflammatory bowel disease consisting of ulcerative colitis (UC) and Crohn's disease (CD) in the Japanese.METHODS: We studied 108 patients with UC, 79 patients with CD, and 200 sex-matched healthy controls, with respect to three single nucleotide polymorphisms (SNPs) in CTLA4, such as C-318T in the promoter region, A+49 Gin exon 1 and G+6230A in the 3' untranslated region (3'-UTR) by a PCR-restriction fragment length polymorphism method, and to an (AT), repeat polymorphism in 3'-UTR by fragment analysis with fluorescence-labeling on denaturing sequence gels. Frequency of alleles and genotypes and their distribution were compared statistically between patients and controls and among subgroups of patients, using X^2 and Fisher exact tests.RESULTS: The frequency of "A/A" genotype at the G+6230A SNP site was statistically lower in UC patients than in controls (3.7% vs 11.0%, P = 0.047, odds ratio (OR) = 0.311). 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Frequency of alleles and genotypes and their distribution were compared statistically between patients and controls and among subgroups of patients, using X^2 and Fisher exact tests.RESULTS: The frequency of "A/A" genotype at the G+6230A SNP site was statistically lower in UC patients than in controls (3.7% vs 11.0%, P = 0.047, odds ratio (OR) = 0.311). Moreover, the frequency of "G/G" genotype at the A+49G SNP site was significantly higher in CD patients with fistula (48.6%) than those without it (26.2%)(P = 0.0388, OR=2.67).CONCLUSION: The results suggest that CTLA4 located at 2q33 is a determinant of UC and responsible for fistula formation in CD in the Japanese.</abstract><cop>United States</cop><pub>Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan%Department of Pharmacotherapeutics, Nagasaki University Graduate School of Biomedical Sciences, 1-14 Bunkyo-machi, Nagasaki 852-8521,Japan%Department of Molecular Pathology, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523,Japan%Department of Gastroenterology, National Hospital Organization Nagasaki Medical Center, 2-1001-1 Kubara,Omura 856-8562, Japan%Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan</pub><pmid>16015687</pmid><doi>10.3748/wjg.v11.i27.4188</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record>
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ispartof World journal of gastroenterology : WJG, 2005-07, Vol.11 (27), p.4188-4193
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subjects Adolescent
Adult
Aged
Aged, 80 and over
Antigens, CD
Antigens, Differentiation - genetics
Clinical Research
Colitis, Ulcerative - genetics
Crohn Disease - genetics
CTLA-4 Antigen
CTLA4
Female
Gene Frequency
Genotype
Humans
Japan
Male
Middle Aged
Polymorphism, Single Nucleotide
基因多态性
疾病调查
等位基因
title Association of polymorphic alleles of CTLA4 with inflammatory bowel disease in the Japanese
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