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IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in Scotland.

作者信息

Van Limbergen J, Russell R K, Nimmo E R, Drummond H E, Smith L, Davies G, Anderson N H, Gillett P M, McGrogan P, Hassan K, Weaver L, Bisset W M, Mahdi G, Wilson D C, Satsangi J

出版信息

Gut. 2007 Aug;56(8):1173-4. doi: 10.1136/gut.2007.122069. Epub 2007 Mar 2.

DOI:10.1136/gut.2007.122069
PMID:17337463
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1955485/
Abstract
摘要

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IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in Scotland.白细胞介素23受体基因的精氨酸381谷氨酰胺突变与苏格兰儿童期炎性肠病相关。
Gut. 2007 Aug;56(8):1173-4. doi: 10.1136/gut.2007.122069. Epub 2007 Mar 2.
2
IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease.白细胞介素23受体变异决定炎症性肠病的易感性而非疾病表型。
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3
NOD2, IL23R and ATG16L1 polymorphisms in Lithuanian patients with inflammatory bowel disease.NOD2、IL23R 和 ATG16L1 多态性与立陶宛炎症性肠病患者的相关性。
World J Gastroenterol. 2010 Jan 21;16(3):359-64. doi: 10.3748/wjg.v16.i3.359.
4
Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease but also ulcerative colitis.白细胞介素23受体（IL23R）基因第381位密码子由精氨酸突变为谷氨酰胺的杂合子不仅对克罗恩病有保护作用，对溃疡性结肠炎也有保护作用。
Aliment Pharmacol Ther. 2007 Oct 1;26(7):1025-33. doi: 10.1111/j.1365-2036.2007.03446.x.
5
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Inflamm Bowel Dis. 2008 Nov;14(11):1528-41. doi: 10.1002/ibd.20512.
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Common variants in NOD2 and IL23R are not associated with inflammatory bowel disease in Indians.常见的 NOD2 和 IL23R 变异与印度人群的炎症性肠病无关。
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Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.白细胞介素23受体与自噬相关蛋白16样蛋白1在意大利成人和儿童炎性肠病中的复制关联
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Epistasis between Toll-like receptor-9 polymorphisms and variants in NOD2 and IL23R modulates susceptibility to Crohn's disease.Toll样受体9多态性与NOD2和IL23R变异之间的上位性调节克罗恩病易感性。
Am J Gastroenterol. 2009 Jul;104(7):1723-33. doi: 10.1038/ajg.2009.184. Epub 2009 May 19.
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rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.rs1004819 是德国克罗恩病患者中主要的与疾病相关的 IL23R 变异体：IL23R、CARD15 和 OCTN1/2 变异体的联合分析。
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Front Pediatr. 2019 Nov 19;7:472. doi: 10.3389/fped.2019.00472. eCollection 2019.
2
Genetic association between IL23R rs11209026 and rs10889677 polymorphisms and risk of Crohn's disease and ulcerative colitis: evidence from 41 studies.IL23R rs11209026 和 rs10889677 多态性与克罗恩病和溃疡性结肠炎风险的遗传关联：来自 41 项研究的证据。
Inflamm Res. 2020 Jan;69(1):87-103. doi: 10.1007/s00011-019-01296-y. Epub 2019 Nov 14.
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IL-23R mutation is associated with ulcerative colitis: A systemic review and meta-analysis.白细胞介素-23受体突变与溃疡性结肠炎相关：一项系统评价和荟萃分析。
Oncotarget. 2017 Jan 17;8(3):4849-4863. doi: 10.18632/oncotarget.13607.
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Association of Interleukin-23 receptor gene polymorphisms with susceptibility to Crohn's disease: A meta-analysis.白细胞介素-23受体基因多态性与克罗恩病易感性的关联：一项荟萃分析。
Sci Rep. 2015 Dec 18;5:18584. doi: 10.1038/srep18584.
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A non-synonymous polymorphism in IL-23R Gene (rs1884444) is associated with reduced risk to schistosomiasis-associated Immune Reconstitution Inflammatory Syndrome in a Kenyan population.白细胞介素-23受体基因（rs1884444）中的一个非同义多态性与肯尼亚人群中血吸虫病相关免疫重建炎症综合征的风险降低有关。
BMC Infect Dis. 2014 Jun 10;14:316. doi: 10.1186/1471-2334-14-316.
6
Genetic variants associated with Crohn's disease.与克罗恩病相关的基因变异
Appl Clin Genet. 2013 Jul 16;6:25-32. doi: 10.2147/TACG.S33966. Print 2013.
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The immunology and genetics of resistance of sheep to Teladorsagia circumcincta.绵羊对捻转血矛线虫抗性的免疫学和遗传学。
Vet Res Commun. 2013 Jun;37(2):171-81. doi: 10.1007/s11259-013-9559-9. Epub 2013 Feb 22.
8
Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms.53 个与克罗恩病相关的遗传多态性的基因型/表型分析。
PLoS One. 2012;7(12):e52223. doi: 10.1371/journal.pone.0052223. Epub 2012 Dec 27.
9
Clinical, serological and genetic predictors of inflammatory bowel disease course.炎症性肠病病程的临床、血清学和遗传学预测因素。
World J Gastroenterol. 2012 Aug 7;18(29):3806-13. doi: 10.3748/wjg.v18.i29.3806.
10
IL-23R polymorphisms, HBV infection, and risk of hepatocellular carcinoma in a high-risk Chinese population.白细胞介素 23 受体多态性、HBV 感染与高危中国人群肝癌风险。
J Gastroenterol. 2013 Jan;48(1):125-31. doi: 10.1007/s00535-012-0620-1. Epub 2012 Jun 28.

本文引用的文献

1
Genetics of the innate immune response in inflammatory bowel disease.炎症性肠病中固有免疫反应的遗传学
Inflamm Bowel Dis. 2007 Mar;13(3):338-55. doi: 10.1002/ibd.20096.
2
IL-23: a master regulator in Crohn disease.白细胞介素-23：克罗恩病的主要调节因子
Nat Med. 2007 Jan;13(1):26-8. doi: 10.1038/nm0107-26.
3
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.一项针对非同义单核苷酸多态性的全基因组关联扫描在自噬相关基因16样蛋白1（ATG16L1）中鉴定出一个克罗恩病的易感性变异。
Nat Genet. 2007 Feb;39(2):207-11. doi: 10.1038/ng1954. Epub 2006 Dec 31.
4
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.一项全基因组关联研究将白细胞介素23受体鉴定为炎症性肠病基因。
Science. 2006 Dec 1;314(5804):1461-3. doi: 10.1126/science.1135245. Epub 2006 Oct 26.
5
Interleukin-23 drives innate and T cell-mediated intestinal inflammation.白细胞介素-23引发先天性和T细胞介导的肠道炎症。
J Exp Med. 2006 Oct 30;203(11):2473-83. doi: 10.1084/jem.20061099. Epub 2006 Oct 9.
6
IL-23 plays a key role in Helicobacter hepaticus-induced T cell-dependent colitis.白细胞介素-23在肝螺杆菌诱导的T细胞依赖性结肠炎中起关键作用。
J Exp Med. 2006 Oct 30;203(11):2485-94. doi: 10.1084/jem.20061082. Epub 2006 Oct 9.
7
IL-23 is essential for T cell-mediated colitis and promotes inflammation via IL-17 and IL-6.白细胞介素-23对T细胞介导的结肠炎至关重要，并通过白细胞介素-17和白细胞介素-6促进炎症反应。
J Clin Invest. 2006 May;116(5):1310-6. doi: 10.1172/JCI21404.
8
Genotype-phenotype analysis in childhood-onset Crohn's disease: NOD2/CARD15 variants consistently predict phenotypic characteristics of severe disease.儿童期起病的克罗恩病的基因型-表型分析：NOD2/CARD15变异持续预测严重疾病的表型特征。
Inflamm Bowel Dis. 2005 Nov;11(11):955-64. doi: 10.1097/01.mib.0000183423.38037.f3.
9
Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease.肿瘤坏死因子配体超家族成员15中的单核苷酸多态性赋予克罗恩病易感性。
Hum Mol Genet. 2005 Nov 15;14(22):3499-506. doi: 10.1093/hmg/ddi379. Epub 2005 Oct 12.
10
Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology.迈向炎症性肠病的临床、分子与血清学综合分类：2005年蒙特利尔世界胃肠病学大会工作小组报告
Can J Gastroenterol. 2005 Sep;19 Suppl A:5A-36A. doi: 10.1155/2005/269076.