In the first study, published in Biomedicines, scientists used 1000 Genomes Project data to investigate a rare mutation linked to Alzheimer’s disease. The authors present evidence to support using this genetic mutation in clinical genetic testing for Alzheimer’s disease, especially when the patient has a family history of dementia.
In the second study, published in Genes, scientists used 1000 Genomes Project data to investigate whether genetic factors involved in blood cholesterol levels also influence Alzheimer’s disease risk. While hypercholesterolemia, a disease that impacts the way a person processes cholesterol, is known to contribute to Alzheimer’s disease risk, the researchers found no connection between the genetic factors involved in blood cholesterol and Alzheimer’s disease.
The first research article, "Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer’s Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor" by P. Abondio, et al., was published in Biomedicines.
The second research article, "Association of a Total Cholesterol Polygenic Score with Cholesterol Levels and Pathological Biomarkers across the Alzheimer’s Disease Spectrum" by N. Nilsson, et al., was published in Genes.
