About: Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population

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About: Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	An association of variants in the genes encoding the interleukin 23 receptor (IL23R, p.Arg381Gln, rs11209026), and the autophagy-related gene 16-like 1 (ATG16L1, p.Ala197Thr, rs2241880) with Crohn disease (CD) was identified by whole genome association studies, and subsequently confirmed by other works. In a case-control study 333 patients with CD (137 paediatric and 196 adult-onset) and 499 unrelated healthy controls were genotyped using TaqMan SNP assays. The IL23R p.381Gln allele was protective against CD in the Czech population (allelic frequency 3.2% in patients vs 5.5% in control subjects; OR 0.56, 95% CI 0.33-0.93, P=0.02). ATG16L1 p.197Ala allele conferred increased risk of CD (allelic frequency 60% in patients vs 51% in controls; OR 1.25, 95% CI 1.02-1.52, P=0.03). We confirmed the role of IL23R and ATG16L1 in the CD susceptibility in the Czech population, and found a weak protective effect of IL23R p.381Gln against upper gastrointestinal tract involvement. An association of variants in the genes encoding the interleukin 23 receptor (IL23R, p.Arg381Gln, rs11209026), and the autophagy-related gene 16-like 1 (ATG16L1, p.Ala197Thr, rs2241880) with Crohn disease (CD) was identified by whole genome association studies, and subsequently confirmed by other works. In a case-control study 333 patients with CD (137 paediatric and 196 adult-onset) and 499 unrelated healthy controls were genotyped using TaqMan SNP assays. The IL23R p.381Gln allele was protective against CD in the Czech population (allelic frequency 3.2% in patients vs 5.5% in control subjects; OR 0.56, 95% CI 0.33-0.93, P=0.02). ATG16L1 p.197Ala allele conferred increased risk of CD (allelic frequency 60% in patients vs 51% in controls; OR 1.25, 95% CI 1.02-1.52, P=0.03). We confirmed the role of IL23R and ATG16L1 in the CD susceptibility in the Czech population, and found a weak protective effect of IL23R p.381Gln against upper gastrointestinal tract involvement. (en)
Title	Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population (en)
skos:prefLabel	Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population Association of IL23R p.381Gln and ATG16L1 p.197Ala With Crohn Disease in the Czech Population (en)
skos:notation	RIV/00216208:11130/09:5150!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Cinek, Ondřej Bronský, Jiří Nevoral, Jiří Dušátková, Petra Kotalová, Radana Hradský, Ondřej
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	304246
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5150
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Age at onset; ATG16L1; Crohn disease; Genetic association; IL23R; inflammatory-bowel-disease; genome-wide association; italian population; susceptibility; gene; variant; expression; phenotype; autophagy; cells (en)
http://linked.open.../riv/klicoveSlovo	Genetic association IL23R genome-wide association expression gene susceptibility variant phenotype Age at onset italian population Crohn disease cells inflammatory-bowel-disease autophagy ATG16L1
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[685F39DB2D22]
http://linked.open...i/riv/nazevZdroje	Journal of Pediatric Gastroenterology and Nutrition
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	49
http://linked.open...iv/tvurceVysledku	Bronský, Jiří Cinek, Ondřej Nevoral, Jiří Dušátková, Petra Kotalová, Radana Hradský, Ondřej Vitek, L. Lenicek, M. Bajerova, K. Lukas, M.
http://linked.open...ain/vavai/riv/wos	000270473200006
http://linked.open...n/vavai/riv/zamer	Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	0277-2116
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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