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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.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.