389 A Candidate Gene Study of Rare Monogenic Disorders With IBD-Like Phenotype Identified Rare Variants in XIAP Gene in a Cohort of Early-Onset IBD Patients

Autor: Jean Marc Maisin, Jacques Van Cauter, Latifa Karim, Myriam Mni, Jacques Devière, P. Hayard, Nadine Cambisano, Edouard Louis, M. Schapira, Emilie Theatre, Benoit Charloteaux, Leila Amininejad, Severine Vermeire, Martine De Vos, Vinciane Muls, André Van Gossum, Denis Franchimont, Michel Georges, Wouter Coppieters, Marc Abramowicz
Rok vydání: 2015
Předmět:
Zdroj: Gastroenterology. 148:S-81
ISSN: 0016-5085
1139-1219
DOI: 10.1016/s0016-5085(15)30283-3
Popis: frameshift variant(rs5743293) had the strongest effect in Group6 (OR=5.52, p=1.07E-16) yet no effect in Group2(OR=1.12, p=0.78), with a p-value of 1.43E-7 for test of heterogeneity; the ATG16L1 T300A variant showed a strong effect in Group4(OR=0.589, p=1.68E-9), with weak to no effect observed in other groups(p for heterogeneity: 5.33E-5). An unbiased Immunochip-wide analysis with these subgroups compared to non-IBD controls identified a putative novel CD association with PRKCQ. Three PRKCQ SNPs contributed individually to different subgroups (rs113912197 to Group2, OR=24.47, p=8.18E-7; rs112123005 to Group3, OR=5.98, p=8.63E-6 and rs661985 to Group1, OR=1.34, p=4.70E-4). LD between these SNPs is weak(R2
Databáze: OpenAIRE
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