Quantifying Missing Heritability at Known GWAS Loci
Components of heritability for typed markers (blue) over nine traits and imputed markers (green) over seven WTCCC1 traits shown. Light bars correspond to estimates from the standard variance-component and dark bars correspond to estimate from LD-adjusted variance-component. Two control sub-groups (NBS and 58C) tested against each other as negative control; diseases tested are Bipolar Disorder (BD), Coronary Artery Disease (CAD), Crohn's Disease (CD), Hypertension (HT), Rheumatoid Arthritis (RA), Type 1 Diabetes (T1D), Type 2 Diabetes (T2D), Multiple Sclerosis (MS), Ulcerative Colitis (UC). Autoimmune traits (CD, RA, T1D, UC, and MS) excluded the well-studied MHC region. All traits exhibit an increase after LD adjustment, indicative of a genetic architecture that is shifted towards low-frequency causal variants. Error bars show analytical standard error of estimate.