Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker.

ABSTRACT:

Background

Crohn's disease (CD) is highly heterogenous and may be complicated by stricturing behavior. Personalized prediction of stricturing will inform management. We aimed to create a stricturing risk stratification model using genomic/clinical data.

Methods

Exome sequencing was performed on CD patients, and phenotype data retrieved. Biallelic variants in NOD2 were identified. NOD2 was converted into a per-patient deleteriousness metric ("GenePy"). Using training data, patients were stratified into risk groups for fibrotic stricturing using NOD2. Findings were validated in a testing data set. Models were modified to include disease location at diagnosis. Cox proportional hazards assessed performance.

Results

Six hundred forty-five patients were included (373 childr

SUBMITTER: Ashton JJ 

PROVIDER: S-EPMC10069659 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature