Extended Data Fig. 1: Heritability (h2) of PSA levels and GWAS results in men of European ancestry without prostate cancer.
From: Genetically adjusted PSA levels for prostate cancer screening
a, Crossbars show h2 estimates, annotated below, and corresponding 95% confidence intervals across statistical methods. In the UK Biobank (UKB), heritability was estimated using GCTA and Linkage Disequilibrium Adjusted Kinships (LDAK)-Thin models from a genetic relatedness matrix (GRM) of common (MAF ≥ 0.01) LD-pruned (r2 < 0.80) variants with imputation quality INFO > 0.80. These estimates were compared to analyses of GWAS summary statistics from the UK Biobank and the EUR meta-analysis using the baseline linkage disequilibrium LDAK model and a high-definition likelihood (HDL) method by Ning et al.26 b, UKB GWAS results where known PSA loci are labeled with the corresponding cytoband region and new regions are labeled with the nearest gene. Highlighted peaks include variants in LD (r2 ≥ 0.01) with the lead novel variant. Two-sided p-values are derived from linear regression models.
