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Article

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.

Annals of neurology - 1 Sept 2015

Vardarajan Badri N, Ghani Mahdi, Kahn Amanda, Sheikh Stephanie, Sato Christine, Barral Sandra, Lee Joseph H, Cheng Rong, Reitz Christiane, Lantigua Rafael, Reyes-Dumeyer Dolly, Medrano Martin, Jimenez-Velazquez Ivonne Z, Rogaeva Ekaterina, St George-Hyslop Peter, Mayeux Richard

Abstract excerpt

OBJECTIVE: To detect rare coding variants underlying loci detected by genome-wide association studies (GWAS) of late onset Alzheimer disease (LOAD). METHODS: We conducted targeted sequencing of ABCA7, BIN1, CD2AP, CLU, CR1, EPHA1, MS4A4A/MS4A6A, and PICALM in 3 independent LOAD cohorts: 176 patients from 124 Caribbean Hispanics families, 120 patients and 33 unaffected individuals from the 129 National Institute...

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Source

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Identifiers

PMID: 26101835
DOI: 10.1002/ana.24466
PMCID: PMC4546546

Genes

BIN1
ABCA7
EPHA1
CLU
PICALM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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