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A PKCeta missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease

1 month 2 weeks ago
The identification of Alzheimer's disease (AD)-associated genomic variants has provided powerful insight into disease etiology. Genome-wide association studies (GWASs) of AD have successfully identified previously unidentified targets but have almost exclusively used additive genetic models. Here, we performed a family-based GWAS of a recessive inheritance model using whole-genome sequencing from families affected by AD. We found an association between AD risk and the variant rs7161410, which is...
Maria Celeste Gauron