The present invention describes a method for the diagnosis or prognosis of Alzheimer's disease (AD), comprising the steps of placing a sample isolated from a person suspected of having AD onto a substrate labeling the sample to identify at least one epigenetic marker and/or genetic variation and determining a state of AD, wherein one of said epigenetic markers is PM20D1 promoter DNA methylation and/or one of said genetic variation is in at least one of PM20D1 mQTL-associated SNPs. Also described is the use of PM20D1 as therapeutic target and viral vectors encoding PM20D1 for use in the therapy of AD. Moreover a kit for diagnosing AD comprising reagents for detecting the SNPs rs708727, rs947211, rs708730, rs708724 or rs823130 is disclosed.
METHODS OF DIAGNOSIS ALZHEIMER'S DISEASE