Protective Variants in Alzheimer ’s Disease

AbstractPurpose of ReviewOver the last decade, over 40 loci have been associated with risk of Alzheimer ’s disease (AD). However, most studies have either focused on identifying risk loci or performing unbiased screens without a focus on protective variation in AD. Here, we provide a review of known protective variants in AD and their putative mechanisms of action. Additionally, we recommend strateg ies for finding new protective variants.Recent FindingsRecent Genome-Wide Association Studies have identified both common and rare protective variants associated with AD. These include variants in or nearAPP,APOE,PLCG2,MS4A,MAPT-KANSL1,RAB10,ABCA1,CCL11,SORL1,NOCT,SCL24A4-RIN3,CASS4,EPHA1,SPPL2A, andNFIC.SummaryThere are very few protective variants with functional evidence and a derived allele with a frequency below 20%. Additional fine mapping and multi-omic studies are needed to further validate and characterize known variants as well as specialized genome-wide scans to identify novel variants.
Source: Current Genetic Medicine Reports - Category: Genetics & Stem Cells Source Type: research