Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias

PROSPECT Consortium, The American Genome Center, International LBD Genomics Consortium, International ALS/FTD Consortium

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia.

Original languageEnglish
Article number100316
JournalCell Genomics
Issue number6
StatePublished - 14 Jun 2023


  • Lewy body dementia
  • amyotrophic lateral sclerosis
  • case-control study
  • frontotemporal dementia
  • genome-wide association study
  • non–Alzheimer's dementia
  • resource
  • structural variant


Dive into the research topics of 'Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias'. Together they form a unique fingerprint.

Cite this