We performed a secondary, sex-stratified (sex was concordant between self-reported and genetically inferred) GWAS in seven EUR samples (Methods). In the analyzed males (N = 639,746; Extended Data Fig. 2a), we identified three additional variants associated with PAU: TRIM54*rs142346138 (Pmales = 4.49 × 10−8 and Pfemales = 0.15), SLC25A48*rs199537352 (Pmales = 1.37 × 10−8 and Pfemales = 0.98) and CLMN*rs113464470 (Pmales = 9.90 × 10−9 and Pfemales = 0.38). In females (N = 143,198; Extended Data Fig. 2b), we identified two additional variants: intergenic rs72772203 (Pfemales = 1.11 × 10−8 and Pmales = 0.28) and TLK2*rs181007867 (Pfemales = 1.43 × 10−8 and Pmales = 0.40). Observed-scale h2 was estimated to be 8.4% (s.e. 0.3%, P = 1.69 × 10−133) in males and 4.5% (s.e. 0.5%, P = 9.72 × 10−24) in females. There was high genetic correlation between males and females (rg = 0.84, s.e. 0.04 and P = 2.39 × 10−86). Overall, we found a similar genetic architecture of PAU in males and females, with possible sex-specific effects at a few loci.
