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Basic Science and Pathogenesis.

Tamil Iniyan Gunasekaran1, Dolly Reyes-Dumeyer2,3, André Corvelo4

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Summary
This summary is machine-generated.

Structural variants (SVs) contribute to Alzheimer's disease (AD) heritability. This study identified significant SVs in familial and sporadic AD cases, offering new insights into disease mechanisms.

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Area of Science:

  • Genetics
  • Neuroscience
  • Genomic Medicine

Background:

  • Alzheimer's disease (AD) presents complex genetic heterogeneity, with current models unable to fully explain its inheritance.
  • Structural variants (SVs) are proposed to account for missing heritability in AD, particularly concerning disease pathology and familial forms, which are understudied.

Purpose of the Study:

  • To investigate the role of structural variants (SVs) in the genetic architecture of Alzheimer's disease (AD).
  • To identify specific SVs associated with familial and sporadic AD risk and pathology.

Main Methods:

  • Whole-genome sequencing data from 1,162 individuals (ROSMAP study) and 330 families (197 NHW, 214 CH) were analyzed for large insertions and deletions using multiple SV callers.
  • Genome-wide SV association analyses were performed for AD risk and pathology in the ROSMAP cohort and validated in an independent ADSP cohort of 29,055 individuals.

Main Results:

  • Nine SVs (one insertion, eight deletions) were found to segregate in AD families, with eight deletions showing genome-wide significance for AD risk.
  • An insertion near PDCD10 reached genome-wide significance for AD risk in the replication cohort.
  • SV-GWAS identified associations between SVs and AD pathology, including an insertion in INPP4B linked to global brain pathology and deletions near ADGRB1 and ARMC2 associated with specific plaque types.

Conclusions:

  • The study identified numerous SVs segregating in familial AD across diverse populations (CH and NHW).
  • Additional SVs were linked to sporadic AD, highlighting their broader role in the disease.
  • Prioritizing SVs based on functional impact is crucial for understanding their contribution to both familial and sporadic AD pathogenesis.