rs116062645 - NOTCH2

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries - Unknown journal (n.d.) · Unknown authors · PubMed 37156999

  ABSTRACT: Inflammatory bowel diseases (IBD) are chronic disorders of the gastrointestinal tract with two subtypes: Crohn's disease (CD) and ulcerative colitis (UC). To date, most IBD genetic associations were derived from individuals of European ancestries (EUR). Here we report the largest IBD study of individuals of East Asian ancestries (EAS), including 14,393 cases and 15,456 controls. We found 80 IBD loci in EAS alone and 320 when meta-analyzed with ~370,000 EUR individuals (~30,000 cases), among which 81 are novel. EAS enriched coding variants implicate many new IBD genes, including ADAP1 and GIT2. While IBD genetic effects are generally consistent across ancestries, genetics underlying CD appears more ancestry dependent than UC, driven by both allele frequency (NOD2) and effect (TN

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