Association of inflammatory bowel disease risk loci with sarcoidosis, and its acute and chronic subphenotypes

The European Respiratory Journal
A FischerS Hofmann

Abstract

Sarcoidosis is a complex granulomatous inflammatory disorder that shares several clinical and pathogenic features with inflammatory bowel disease (IBD). Postulating a common genetic basis of inflammatory diseases, we tested 106 single-nucleotide polymorphisms (SNPs) that are known or have been suggested to be associated with IBD for a potential association with sarcoidosis and its acute and chronic subphenotypes. We genotyped 1,996 German sarcoidosis patients, comprising 648 acutely and 1,161 chronically affected individuals, 2,622 control subjects, and 342 German trios with affected offspring using SNPlex™ technology. The nonsynonymous SNP rs11209026 (Arg381Gln) in the interleukin (IL)-23 receptor (IL23R) gene was associated with chronic sarcoidosis (OR 0.63; p = 5.58×10(-5)), which was supported by the result of a transmission disequilibrium test analysis in the independent family sample (OR 0.50; p = 0.031). Marker rs12035082 located at chromosome 1q24.3 was found to be associated with the acute subphenotype (OR 1.36; p = 6.80×10(-7)) and rs916977 (HERC2 locus; OR 1.30; p = 4.49×10(-5)) was associated with sarcoidosis. Our results highlight the potential importance of the IL-23 signalling pathway for the development of chron...Continue Reading

Citations

Jul 4, 2012·American Journal of Respiratory and Critical Care Medicine·Tracy R LuckhardtVictor J Thannickal
Jul 28, 2012·American Journal of Respiratory and Critical Care Medicine·Annegret FischerStefan Schreiber
May 19, 2012·La Presse médicale·Joachim Müller-QuernheimGernot Zissel
Nov 26, 2015·Clinics in Chest Medicine·Tasha E FingerlinLisa A Maier
Jun 9, 2015·American Journal of Respiratory and Critical Care Medicine·Annegret FischerUNKNOWN GenPhenReSa Consortium
Mar 21, 2015·Clinical Reviews in Allergy & Immunology·Johan GrunewaldAnders Eklund
Nov 12, 2014·Frontiers in Pharmacology·Sabine RingkowskiCristan Herbert
Apr 7, 2016·Journal of Pediatric Gastroenterology and Nutrition·Scott B RaymondKatherine Nimkin
Jul 22, 2016·Medicine·Etienne GhrenassiaUNKNOWN Groupe Sarcoïdose Francophone
Jan 27, 2018·The European Respiratory Journal·Jonas Christian SchuppJoachim Müller-Quernheim
Feb 17, 2018·The European Respiratory Journal·Caroline E BroosMirjam Kool
Jun 21, 2019·Current Opinion in Pulmonary Medicine·Michelle TerwielColine H M van Moorsel
Dec 13, 2017·Oncotarget·José M García-Heredia, Amancio Carnero
Aug 27, 2019·Frontiers in Physiology·Jesús García-CanoJose Luis Rosa
Feb 25, 2017·Archives of Pathology & Laboratory Medicine·Kenrry Chiu, Joanne Lynne Wright
Oct 4, 2017·World Journal of Gastroenterology : WJG·Morten L HallingLars Koch Hansen
Aug 18, 2018·Der Internist·A MoeserA Stallmach
Aug 1, 2019·Current Opinion in Pulmonary Medicine·Michelle TerwielColine H M van Moorsel
Aug 23, 2020·Communications Biology·Akira MeguroNobuhisa Mizuki
Aug 16, 2019·Expert Review of Respiratory Medicine·David BennettPaola Rottoli
Jan 26, 2021·Expert Review of Clinical Pharmacology·Ogugua Ndili ObiRobert P Baughman
Dec 16, 2020·JGH Open : an Open Access Journal of Gastroenterology and Hepatology·Yi JiangSushil Ahlawat
Aug 19, 2021·Experimental Lung Research·Tina SchreiberBurkhard Bewig

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