Human Genetics

Fine-mapping inflammatory bowel disease loci to single-variant resolution

Huang et al 2017 Nature Overview Inflammatory bowel disease (IBD) { width=60% } Ulcerative colitis (UC): colon inflammation & ulcers Crohn’s disease (CD): colon + ileum inflammation Contributions of this study The pace of identifying associated loci outstrips that of defining specific molecular mechanisms and extracting biological insight from associations 200 IBD loci identified, few resolved to functional variants This study: 94 loci evaluated, 45 variants resolved Approach: genetic «fine-mapping» + detailed annotations Dense genotyping array of Europeans 3 fine-mapping methods Enrichment in regulatory regions 3 eQTL colocalization methods ###

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