PSEN1 and Alzheimer disease: Under this recessive model, the non-synonymous mutations CSN1S1-rs10030475 (CC genotype, P = 4.76 × 10−9, PFDR = 5.43 × 10−5), LOXL4-rs33995374 (CC genotype, P = 3.28 × 10−7, PFDR = 0.0024), and DHRS4L2-rs2273946 (CC genotype, P = 3.48 × 10−7, PFDR = 1.9 × 10−3) were also found to be ADAOO modifiers in our cohort of individuals with AD carrying the PSEN1 E280A mutation (Table 1b).