the MAPT region (rs1981997, r2 LD = 1.0 with rs393152 in the HapMap 2) demonstrated a similar meta-analysis p-value to rs393152 providing further evidence that our AD/PD pleotropic SNP was not a false positive result. Finally, the A allele of rs393152 showed a dose-dependent effect specifically with MAPT transcript levels within the brain and was significantly associated with longitudinal medial temporal lobe atrophy, an established endophenotype of Alzheimer’s neurodegeneration.
