Pathway analyses were performed using QIAGEN’s IPA® (QIAGEN Redwood City) software. In order to distinguish the pathway enrichment contribution of novel loci from known HR loci, two sets of analyses were conducted. The first analysis captured the total known signal to date, investigating all 67 loci currently published, which include the 21 loci from the previously reported GWAS (12) and the 46 loci recently published from UK Biobank (17) since the completion of our meta-analysis. The second analysis included our five unreported novel loci in addition to all the previously reported loci. In each case, the analysis included all genes annotated from the lead SNVs and their proxies (r2 ≥ 0.8). Results were filtered for pathway enrichment of P-values ≤ 10−4. We specifically report the pathways for which enrichment is increased with the inclusion of genes from our novel loci.
