Of 42 lead variants (mapping to 27 loci, Figure 2b, and Supplementary Table 3) that were genome-wide significant (GWS) for PAU, 29 were independently associated after conditioning on lead SNPs in the regions (see below and Table 1). Ten variants were previously identified through the same index SNPs or tagged SNPs, located in or near the following genes: GCKR, SIX3, KLB, ADH1B, ADH1C, SLC39A8, DRD2, and FTO [2–5]. Thus, 19 variants reported here are novel, of which 11 were located in gene regions, including PDE4B Phosphodiesterase 4B), THSD7B (Thrombospondin Type 1 Domain Containing 7B), CADM2 (Cell Adhesion Molecule 2), ADH1B (different from the locus identified previously), DPP6 (Dipeptidyl Peptidase Like 6), SLC39A13 (Solute Carrier Family 39 Member 13), TMX2 (Thioredoxin Related Transmembrane Protein 2), ARID4A (AT-Rich Interaction Domain 4A), C14orf2 (Chromosome 14 Open Reading Frame 2), TNRC6A (Trinucleotide Repeat Containing Adaptor 6A), and FUT2 (Fucosyltransferase 2). A novel rare ADH1B variant, rs75967634 (p = 1.07 × 10−9, with a minor allele frequency of 0.003), which causes a substitution of histidine for arginine, is in the same codon as rs2066702 (a
