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@ARTICLE{Felsky:169129,
author = {Felsky, Daniel and Santa-Maria, Ismael and Cosacak, Mehmet
Ilyas and French, Leon and Schneider, Julie A and Bennett,
David A and De Jager, Philip L and Kizil, Caghan and Tosto,
Giuseppe},
title = {{T}he {C}aribbean-{H}ispanic {A}lzheimer's disease brain
transcriptome reveals ancestry-specific disease mechanisms.},
journal = {Neurobiology of disease},
volume = {176},
issn = {0969-9961},
address = {[Amsterdam]},
publisher = {Elsevier},
reportid = {DZNE-2023-00008},
pages = {105938},
year = {2023},
abstract = {Identifying ancestry-specific molecular profiles of
late-onset Alzheimer's Disease (LOAD) in brain tissue is
crucial to understand novel mechanisms and develop effective
interventions in non-European, high-risk populations. We
performed gene differential expression (DE) and consensus
network-based analyses in RNA-sequencing data of postmortem
brain tissue from 39 Caribbean Hispanics (CH). To identify
ancestry-concordant and -discordant expression profiles, we
compared our results to those from two independent
non-Hispanic White (NHW) samples (n = 731). In CH, we
identified 2802 significant DE genes, including several LOAD
known-loci. DE effects were highly concordant across
ethnicities, with 373 genes transcriptome-wide significant
in all three cohorts. Cross-ancestry meta-analysis found
NPNT to be the top DE gene. We replicated over $82\%$ of
meta-analyses genome-wide signals in single-nucleus RNA-seq
data (including NPNT and LOAD known-genes SORL1, FBXL7, CLU,
ABCA7). Increasing representation in genetic studies will
allow for deeper understanding of ancestry-specific
mechanisms and improving precision treatment options in
understudied groups.},
keywords = {Humans / Transcriptome / Alzheimer Disease: genetics /
Caribbean People / Ethnicity / Brain / Genetic
Predisposition to Disease / Polymorphism, Single Nucleotide
/ LDL-Receptor Related Proteins: genetics / Membrane
Transport Proteins: genetics / Alzheimer's disease (Other) /
Brain gene expression (Other) / Bulk tissue (Other) /
Caribbean-Hispanic (Other) / Single cell (Other) / SORL1
protein, human (NLM Chemicals) / LDL-Receptor Related
Proteins (NLM Chemicals) / Membrane Transport Proteins (NLM
Chemicals)},
cin = {AG Kizil},
ddc = {570},
cid = {I:(DE-2719)1710007},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pmc = {pmc:PMC10039465},
pubmed = {pmid:36462719},
doi = {10.1016/j.nbd.2022.105938},
url = {https://pub.dzne.de/record/169129},
}