Authors
Alexandra Zhernakova, Eleanora M Festen, Lude Franke, Gosia Trynka, Cleo C van Diemen, Alienke J Monsuur, Marianna Bevova, Rian M Nijmeijer, Ruben van‘t Slot, Roel Heijmans, H Marike Boezen, David A van Heel, Adriaan A van Bodegraven, Pieter CF Stokkers, Cisca Wijmenga, J Bart A Crusius, Rinse K Weersma
Publication date
2008/5/9
Journal
The American Journal of Human Genetics
Volume
82
Issue
5
Pages
1202-1210
Publisher
Elsevier
Description
The two main phenotypes of inflammatory bowel disease (IBD)—Crohn's disease (CD) and ulcerative colitis (UC)—are chronic intestinal inflammatory disorders with a complex genetic background. Using a three-stage design, we performed a functional candidate-gene analysis of innate immune pathway in IBD. In phase I, we typed 354 SNPs from 85 innate immunity genes in 520 Dutch IBD patients (284 CD, 236 UC) and 808 controls. In phase II, ten autosomal SNPs showing association at p < 0.006 in phase I were replicated in a second cohort of 545 IBD patients (326 CD, 219 UC) and 360 controls. In phase III, four SNPs with p < 0.01 in the combined phase I and phase II analysis were genotyped in an additional 786 IBD samples (452 CD, 334 UC) and 768 independent controls. Joint analysis of 1851 IBD patients (1062 CD, 789 UC) and 1936 controls demonstrated strong association to the IL18RAP rs917997 …
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Scholar articles
A Zhernakova, EM Festen, L Franke, G Trynka… - The American Journal of Human Genetics, 2008