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Basic Science and Pathogenesis.

Bilcag Akgun1, Wanying Xu2,3, Kara L Hamilton-Nelson1

  • 1John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

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Summary
This summary is machine-generated.

Puerto Rican (PR) genome-wide association studies identified a novel Alzheimer disease (AD) risk locus on chromosome 12. Differential chromatin interactions between European (EU) and African (AF) ancestries may explain admixture mapping signals.

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Area of Science:

  • Genetics
  • Neuroscience
  • Population Health

Background:

  • Puerto Ricans (PR) are a genetically admixed population with European (EU), African (AF), and Amerindian ancestries.
  • A previous genome-wide association study (GWAS) suggested an Alzheimer disease (AD) risk locus on chromosome 12 in PR individuals.
  • This region (12q13) has been previously implicated but not fully delineated.

Purpose of the Study:

  • To expand the investigation of AD risk loci in the PR population.
  • To conduct an expanded GWAS and meta-analysis focusing on the 12q13 region.
  • To identify novel AD susceptibility loci and characterize known AD loci in PR individuals.

Main Methods:

  • Analyzed 867 PR individuals (449 AD; 428 controls), including newly recruited participants.
  • Imputed genotype data and performed GWAS using a generalized linear mixed model.
  • Meta-analyzed two cohorts and used Enhanced Hi-C Capture Analysis (eHiCA) to identify target genes at novel loci.

Main Results:

  • Identified a novel genome-wide significant AD risk locus (rs4761988) within the SCN8A gene on chromosome 12.
  • eHiCA revealed differential chromatin interactions between EU and AF ancestries involving SCN8A and other genes.
  • Replicated eight known AD loci, consistent with the high EU ancestry background in the PR population.

Conclusions:

  • A novel genome-wide significant AD risk locus was identified in the PR population through meta-analysis.
  • eHiCA implicated SCN8A and other genes as potential targets at the novel locus.
  • Differential chromatin interactions linked to ancestry may contribute to the observed admixture mapping signal.