P005 ATG16L1 RS2241880 G ALLELE AND IL23R RS11209026 (ARG381GLN) VARIANT ARE ASSOCIATED WITH CROHN'S DISEASE IN GERMAN CHILDREN

IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes MATTIA LAURIOLA1,2*, GIAmPAOLO UGOLINI3*, STEFANO RIvETTI1,2, SARA NANì1,2, GIANCARLO ROSATI3,

Recent genomic research has identified interleukin-23 receptor (IL23R), nucleotide-binding oligomerization domain containing 2 caspase-activation recruitment domain 15 (NOD2/CARD15), autophagy related 16-like 1 (ATG16L1) and paired-like homeobox 2b (PHOX2B) as susceptibility loci for Crohn's Disease (CD). Our aim was to investigate these gene variants in a group of CD patients and to analyse th...

The Crohn's disease: associated ATG16L1 variant and Salmonella invasion

OBJECTIVE A common genetic coding variant in the core autophagy gene ATG16L1 is associated with increased susceptibility to Crohn's disease (CD). The variant encodes an amino acid change in ATG16L1 such that the threonine at position 300 is substituted with an alanine (ATG16L1 T300A). How this variant contributes to increased risk of CD is not known, but studies with transfected cell lines and ...

rs1004819 Is the Main Disease-Associated IL23R Variant in German Crohn's Disease Patients: Combined Analysis of IL23R, CARD15, and OCTN1/2 Variants

BACKGROUND The IL23R gene has been identified as a susceptibility gene for inflammatory bowel disease (IBD) in the North American population. The aim of our study was to test this association in a large German IBD cohort and to elucidate potential interactions with other IBD genes as well as phenotypic consequences of IL23R variants. METHODS Genomic DNA from 2670 Caucasian individuals includi...

IL23R(Arg381Gln) functional polymorphism is associated with active pulmonary tuberculosis severity.

The purpose of our study was to investigate the association between a functional single nucleotide polymorphism (SNP) in the interleukin-23 receptor gene (IL23R; rs11209026, 1142 G(wild type) → A(reduced function), Arg381Gln) and disease severity outcome in pulmonary tuberculosis (TB) in the Tunisian population. SNP was investigated in a population of 168 patients with active pulmonary TB (case...

The inflammatory disease-associated variants in IL12B and IL23R are not associated with rheumatoid arthritis.