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May 12, 2026Open Access

Exome sequencing directly implicates 68 genes in inflammatory bowel disease

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Authors

RZRuifei ZhuQZQian ZhangKYKai Yuan

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Overview

Sequencing study uncovers 68 protein-coding genes in European individuals with inflammatory bowel disease, highlighting novel therapeutic targets and complex genetic effects.

Key Points

  • To identify causal protein-coding genetic variants and directly resolve implicated genes and biological pathways in inflammatory bowel disease.
  • Analyzed whole-exome and whole-genome sequencing data from 86,213 cases with inflammatory bowel disease and 478,363 controls of European ancestry.
  • Evaluated conditionally independent protein-coding associations across the allele frequency spectrum combined with orthogonal genomic and pleiotropic data.
  • Directly implicated 68 inflammatory bowel disease genes via conditionally independent coding associations across the allele frequency spectrum.
  • Identified allelic series and non-additive genetic effects at critical disease loci, including NOD2 and TYK2, pointing toward therapeutically relevant biological pathways.

Cite This Study

Zhu et al. (2026) studied this question.

synapsesocial.com/papers/6a1a4375208efea2cbef26fchttps://doi.org/10.64898/2026.05.08.26352648
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Multi-ancestry genome-wide and transcriptome-wide association analyses identified new risk loci and genes for inflammatory bowel disease2025
  2. 2DOP051Exome-wide Association Study Reveals Novel Genetic Risk Loci for Inflammatory Bowel Disease2026
  3. 3Identification of the Novel Genes Associated with the Inflammatory Bowel Disease (IBD) using Genome Wide Expression Sequencing Data Set2024
  4. 4Exploration of the potential causative genes for inflammatory bowel disease: Transcriptome-wide association analysis, Mendelian randomization analysis and Bayesian colocalisation2024 · 4 citations
  5. 5Key Disease-Related Genes and Immune Cell Infiltration Landscape in Inflammatory Bowel Disease: A Bioinformatics Investigation2024 · 17 citations