Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk

PubliCatt (Università Cattolica del Sacro Cuore) 2026 Open access

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Authors: Antonio Daniele, Carlo Masullo
DOI: 10.1016/j.ajhg.2026.07.013
Cited by: 1
References: 59

Abstract

Systematic analysis of rare exonic copy-number variants in Alzheimer disease identifies association with both known genes and a dosage-sensitive locus at 22q11.21,where deletions increase risk and duplications are protective.Convergent genetic and functional evidence prioritizes SCARF2 as a candidate mediator, with overexpression enhancing amyloid-β uptake.

Fields of Study & Subjects

Congenital heart defects research Genomic variations and chromosomal abnormalities Single-cell and spatial transcriptomics

Publication details

Journal / source
PubliCatt (Università Cattolica del Sacro Cuore)
Publisher
Elsevier BV
Volume
113
Issue
10
Pages
2099-2117
Publication date
1 January 2026
Language
EN