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Analysis of Ashkenazi Jewish Cohort Uncovers New Genetic Loci Linked to Alzheimer's Disease

Researchers have identified additional genetic loci associated with risk of developing Alzheimer's disease. As they report in Alzheimer's & Dementia, a Boston University-led team conducted a genome-wide association study of people with Ashkenazi Jewish ancestry with and without Alzheimer's disease (AD). While their analysis highlighted known Alzheimer's variants, such as in APOE and TREM2, it also pointed to novel ones, including in RAB3, SMAP2, ZNF890P, and GIPR. These genes, the researchers note, have biological ties to AD. For instance, SMAP2 encodes a GTPase-activating protein for Arf1, which includes a domain that binds the clathrin adaptor protein complex 1 that, in turn, is needed to export amyloid precursor protein. "Our results highlight the efficacy of conducting GWAS for AD in founder populations, which may have significantly higher frequencies for some variants that are rare in genetically heterogeneous populations and can lead to effective discovery of genetic associations for specific ancestry populations," the researchers write.