Missense and Loss of Function Variants at GWAS Loci in Familial Alzheimer's Disease.

Tamil Iniyan GunasekaranDolly Reyes-DumeyerKelley M FaberAlison GoateBradley F Boeve Cruchaga CarlosMargaret Pericak-VanceJonathan L HainesRoger RosenbergDebby W TsuangDiones Rivera MejiaMartin MedranoRafael A LantiguaRobert A SweetDavid A BennettRobert S WilsonCamille AlbaClifton DalgardTatiana ForoudBadri N VardarajanRichard P Mayeux

Published in: medRxiv : the preprint server for health sciences (2024)

and several rare variants were found to segregate in both family datasets, many families had no variant accounting for their disease. This suggests that familial AD may be the result of unidentified rare variants.

Keyphrases

copy number
early onset
genome wide
cognitive decline
intellectual disability
gene expression
mild cognitive impairment
single cell