In this study, 10 missense variants were identified in SORL1. Remarkably, approximately 33% (22/66) of patients in the cohort carried a common variant (rs2298813-p.Ala528Thr), which was demonstrated to increase Aβ42 secretion in AD cases by altering Aβ levels and interfering with APP trafficking37,38. The gene discussed is APP; the disease is Alzheimer disease.