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August 15, 2025

Phenome-wide association study of monogenic inflammatory bowel disease genes in diverse biobanks identifies population-specific and shared Goldilocks alleles: implications for Precision Medicine.

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Authors

MBMichelle BaoMKMeltem Ece KarsDZDavid Zhang

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Overview

Phenome-wide association study uncovers population-specific Goldilocks variants in IBD genes, suggesting precision medicine approaches.

Key Points

  • Significant associations with inflammatory bowel disease were found in diverse genetic populations, highlighting genetic diversity.
  • Out of 11,546 extracted variants, over two-thirds were predicted loss-of-function mutations, impacting monogenic IBD pathways.
  • Assessment utilized phenome-wide association methods across four biobanks, revealing population-specific alleles in African cohorts.
  • The findings underscore the necessity for increasing diversity in genetic studies to enhance precision medicine initiatives.

Cite This Study

Bao et al. (2025) studied this question.

synapsesocial.com/papers/68c235ccb210217d64771de3https://doi.org/10.1093/ecco-jcc/jjaf098
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Also Consider

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

  1. 1GENETIC RISK VARIANTS ARE COMMON IN PEDIATRIC INFLAMMATORY BOWEL DISEASE PATIENTS FROM MINORITIZED BACKGROUNDS2026
  2. 2Decoding the Molecular Landscape of Inflammatory Bowel Disease: A Mendelian Randomization and Machine Learning Analysis2025
  3. 3IBD GENETIC VARIATION CONTROLS T CELL EXPRESSION AND FUNCTION2026
  4. 4Decoding non-coding SNPs: systems genomics modelling dissects the heterogeneity of IBD2025
  5. 5Identification of pathogenic cell types and shared genetic loci and genes for Alzheimer’s disease and inflammatory bowel disease2025