The Caribbean-Hispanic Alzheimer's disease brain transcriptome reveals ancestry-specific disease mechanisms

Neurobiol Dis. 2023 Jan:176:105938. doi: 10.1016/j.nbd.2022.105938. Epub 2022 Nov 30.

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: Alzheimer's disease; Brain gene expression; Bulk tissue; Caribbean-Hispanic; Single cell.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease* / genetics
  • Brain
  • Caribbean People
  • Ethnicity
  • Genetic Predisposition to Disease
  • Humans
  • LDL-Receptor Related Proteins / genetics
  • Membrane Transport Proteins / genetics
  • Polymorphism, Single Nucleotide
  • Transcriptome*

Substances

  • SORL1 protein, human
  • LDL-Receptor Related Proteins
  • Membrane Transport Proteins