ArticlemedRxiv : the preprint server for health sciences2024
Missense and Loss of Function Variants at GWAS Loci in Familial Alzheimer's Disease.
Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
21 authors at 14 institutions in 2 countries.
Funding
Abstract
backgroundFew rare variants have been identified in genetic loci from genome wide association studies of Alzheimer's disease (AD), limiting understanding of mechanisms and risk assessment, and genetic counseling.
methodsUsing genome sequencing data from 197 families in The NIA Alzheimer's Disease Family Based Study, and 214 Caribbean Hispanic families, we searched for rare coding variants within known GWAS loci from the largest published study.
resultsEighty-six rare missense or loss of function (LoF) variants completely segregated in 17.5% of families, but in 91 (22.1%) of families DISCUSSION: Although
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Registered trials
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