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Updated: May 27, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Prediction of disease complication occurrence in Crohn's disease using phenotype and genotype parameters at diagnosis
Yoav Mazor1, Itay Maza, Eduard Kaufman
1Gastroenterology Department, Rambam Health Center, Haifa, Israel. y_mazor@rambam.health.gov.il, yoavmazor@gmail.com
Background And Aims:
Complications associated with Crohn's disease (CD) are common and influence treatment decisions and outcomes. Appropriate early treatment may offer a therapeutic advantage to patients. The aim of our study was to indentify predictive factors for occurrence of complications at the time of CD diagnosis.
Methods:
The study population consisted of 269 CD patients treated during a ten year period. Risk factors compared between complicated and non-complicated disease included phenotypical characteristics, disease classification and the presence of NOD2/CARD15 mutations and single nucleotide polymorphisms in selected autophagy and phagosome genes.
Results:
Complete data was obtained for 146 patients with an average follow up of 12years. Sixty five patients (44%) developed a complication during follow up. The only independent risk factors associated with developing a complication were smoking and male gender. There was no association between developing complications and the presence of selected SNPs (P=0.07 for Tyrosine residue on both alleles in NCF4 SNP rs4821544 and P=0.06 for a Guanine residue on both alleles in ATG16L SNP rs2241880). Multivariate analysis using a backwards logistic regression model left only male gender as an independent statistically significant association with complicated disease (OR 2.6017, 95% CI: 1.17 to 5.75). The median time to developing a complication was 4years, and the most common complication was the need for surgical intervention (54%).
Conclusions:
In the present study, a risk factor for developing CD complication was male gender. Further studies are warranted to assess additional risk factors and how such findings should affect therapy.
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