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[P3–096]: NOVEL CANDIDATE AD‐RISK LOCI IDENTIFIED THROUGH WHOLE EXOME SEQUENCING IN AFRICAN‐AMERICANS
Author(s) -
Carrasquillo Minerva M.,
Ho Charlotte C.G.,
Nsongo Aurelie,
Wang Xue,
Burgess Jeremy D.,
Nguyen Thuy,
Ma Li,
Bisceglio Gina D.,
Lincoln Sarah J.,
Malphrus Kimberly G.,
Asmann Yan W.,
Younkin Steven G.,
Duara Ranjan,
Greig Custo Maria T.,
GraffRadford Neill R.,
ErtekinTaner Nilufer
Publication year - 2017
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2017.06.1306
Subject(s) - minor allele frequency , allele , exome sequencing , exome , genetics , gene , allele frequency , genetic association , cohort , disease , african american , covariate , biology , medicine , genotype , single nucleotide polymorphism , mutation , history , ethnology , statistics , mathematics
for investigating prodromal markers for AD, including state of the art imaging phenotypes including functional integrity and connectivity, and amyloid PET. In addition the recruitment of twins will provide a unique opportunity to tease apart the contribution of genes and environment on these traits. Results:For AD, a high prediction accuracy of an AUC of 78.2% can be achieved by a prediction model with the PRS adding significant predictive value over APOE alone. The AD PRS is associated with reduced hippocampal volume in those without a dementia diagnosis, including healthy older adults and those with mild cognitive impairment (MCI). Conclusions: Genetic risk for AD affects the brain before clinical symptoms and can be a tool for the identification of early markers of prodromal Alzheimer’s disease. The PISA study is an at risk AD cohort enriched by genome-wide risk prediction, aiming to identify early markers of prodromal Alzheimer’s disease that are detectable as early as middle age.