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

Abstract excerpt

BACKGROUND AND AIMS: Monogenic forms of inflammatory bowel disease (IBD) are driven by variants in genes critical to pathways in intestinal homeostasis and immunity. We investigated gene- and variant-level effects of these genes with IBD and phenome-wide association, leveraging large-scale whole exome sequencing data across 4 diverse cohorts: BioMe Biobank (Regeneron and Sema4), Penn Med Biobank, and UK Biobank....

Topics

• Female
• Humans
• Male
• Alleles
• Biological Specimen Banks
• Black or African American
• Exome Sequencing
• Genetic Predisposition to Disease
• Genome-Wide Association Study
• Inflammatory Bowel Diseases