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Article

Whole-genome sequencing reveals new Alzheimer's disease-associated rare variants in loci related to synaptic function and neuronal development.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Sept 2021

Prokopenko Dmitry, Morgan Sarah L, Mullin Kristina, Hofmann Oliver, Chapman Brad, Kirchner Rory, Amberkar Sandeep, Wohlers Inken, Lange Christoph, Hide Winston, Bertram Lars, Tanzi Rudolph E

Abstract excerpt

INTRODUCTION: Genome-wide association studies have led to numerous genetic loci associated with Alzheimer's disease (AD). Whole-genome sequencing (WGS) now permits genome-wide analyses to identify rare variants contributing to AD risk. METHODS: We performed single-variant and spatial clustering-based testing on rare variants (minor allele frequency [MAF] ≤1%) in a family-based WGS-based association study of 2247...

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Identifiers

PMID: 33797837
DOI: 10.1002/alz.12319
PMCID: PMC8519060

Genes

APC
C2CD3
CLSTN2
CTNNA2
FNBP1L
KIF2A
LHX9
MAF
NALCN
PRKCH
SEL1L
SYTL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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