Evidence map›Paper›PMID 25172201›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2014

Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans.

Mark W Logue, Matthew Schu, Badri N Vardarajan, John Farrell, David A Bennett, Joseph D Buxbaum, Goldie S Byrd, Nilufer Ertekin-Taner, Denis Evans, Tatiana Foroud and 7 more

Abstract read
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
74citing papers in PubMed, 2 pooled it
6.2field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

74 citing papers in PubMed, 2 syntheses or guidelines pooled it, 158 citations in OpenAlex.

  1. Genetic and environmental risk factors for dementia in African adults: A systematic review.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
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  13. Missense and loss-of-function variants at GWAS loci in familial Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
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  16. Social determinants of health but not global genetic ancestry predict dementia prevalence in Latin America.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
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14 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 16 institutions in 1 country.

Mark W LogueDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
Matthew SchuDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.
Badri N VardarajanDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.
John FarrellDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, MA, USA.
David A BennettRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA.
Joseph D BuxbaumDepartments of Neuroscience and Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA.
Goldie S ByrdDepartment of Biology, North Carolina A & T State University, Greensboro, NC, USA.
Nilufer Ertekin-TanerDepartments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, FL, USA.
Denis EvansRush Institute for Healthy Aging, Department of Internal Medicine, Rush University Medical Center, Chicago, IL, USA.
Tatiana ForoudDepartment of Medical and Molecular Genetics, Indiana University, Indianapolis, IN, USA.
Alison GoateDepartment of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University School of Medicine, St. Louis, MI, USA.
Neill R Graff-RadfordDepartments of Neuroscience and Neurology, Mayo Clinic, Jacksonville, FL, USA.
M Ilyas KambohDepartment of Human Genetics and Alzheimer's Disease Research Center, University of Pittsburgh, Pittsburgh, PA, USA.
Walter A KukullNational Alzheimer's Coordinating Center and Department of Epidemiology, University of Washington, Seattle, WA, USA.
Jennifer J ManlyDepartment of Neurology and the Taub Institute, Columbia University, New York, NY, USA.
Alzheimer Disease Genetics Consortium
Alzheimer Disease Genetics Consortium
Boston University · USColumbia University · USMayo Clinic in Florida · USRush University Medical Center · USBoston Public Schools · USCase Western Reserve University · USHope Center for Neurological Disorders · USIcahn School of Medicine at Mount Sinai · USIndiana University IndianapolisJohns Hopkins University · USMolina Center for Energy and the Environment · USNorth Carolina Agricultural and Technical State University · USUniversity of Miami · USUniversity of Pennsylvania · USUniversity of Pittsburgh · USUniversity of Washington · US

Funding

National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8M
NATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8M
Smartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI CHENGJIE XIONG · 1985 to 2026
$69.5M
Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4M
WASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 1985 to 2019
$52.1M
The natural history of AB accumulation in preclinical ADP01AG026276 · NIA · WASHINGTON UNIVERSITY · PI SCHINDLER, SUZANNE ELIZABETH · 2005 to 2025
$49.5M
SUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1991 to 2020
$49.1M
EPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3M
TREATMENT OF DEPRESSION IN ALZHEIMER'S DISEASEP50AG005133 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI BECKER, JAMES T. · 1985 to 2019
$43.0M
VESICULAR LOCALIZATION AND FUNCTION OF PRESENILIN 1 FRAGMENTP50AG005138 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI SCHIMMING, CORBETT · 1985 to 2019
$37.9M
THE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI BU, GUOJUN · 1999 to 2018
$36.9M
The National Institute on Aging (NIA) Late Onset of Alzheimer's Disease (LOAD) Family-Based Study (FBS)U24AG056270 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Gary Wayne Beecham, TATIANA M. FOROUD · 2017 to 2026
$31.4M
NCATS NIH HHS UL1 TR001108NCRR NIH HHS KL2 RR024151NIA NIH HHS P01 AG003991NIA NIH HHS P01 AG026276NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG013846NIA NIH HHS P50 AG005133NIA NIH HHS P50 AG005138NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG016574NIA NIH HHS R01 AG009029NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG019085NIA NIH HHS R01 AG020688NIA NIH HHS R01 AG022018NIA NIH HHS R01 AG025259NIA NIH HHS R01 AG026390NIA NIH HHS R01 AG027944NIA NIH HHS R01 AG028786NIA NIH HHS R01 AG030146NIA NIH HHS R01 AG030653NIA NIH HHS R01 AG037212NIA NIH HHS R01 AG041718NIA NIH HHS R01 AG041797NIA NIH HHS R01 AG048927NIA NIH HHS R37 AG015473NIA NIH HHS RC2 AG036528NIA NIH HHS RC2 AG036650NIA NIH HHS RF1 AG015819NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG032984NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG026395NIA NIH HHS U24 AG056270NIMHD NIH HHS P20 MD000546NINDS NIH HHS R01 NS080820
6 · The paper itself

Abstract

backgroundLess is known about the genetic basis of Alzheimer's disease (AD) in African Americans (AAs) than in non-Hispanic whites.

methodsWhole exome sequencing (WES) was performed on seven AA AD cases. Disease association with potentially AD-related variants from WES was assessed in an AA discovery cohort of 422 cases and 394 controls. Replication was sought in an AA sample of 1037 cases and 1869 controls from the Alzheimer Disease Genetics Consortium (ADGC).

resultsForty-four single nucleotide polymorphisms (SNPs) from WES passed filtering criteria and were successfully genotyped. Nominally significant (P < .05) association to AD was observed with two African-descent specific AKAP9 SNPs in tight linkage disequilibrium: rs144662445 (P = .014) and rs149979685 (P = .037). These associations were replicated in the ADGC sample (rs144662445: P = .0022, odds ratio [OR] = 2.75; rs149979685: P = .0022, OR = 3.61).

conclusionsBecause AKAP9 was not previously linked to AD risk, this study indicates a potential new disease mechanism.

Indexed as

AgedAged, 80 and overA Kinase Anchor ProteinsAlzheimer DiseaseBlack or African AmericanCluster AnalysisCytoskeletal ProteinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMalePolymorphism, Single NucleotideAKAP9 protein, humanA Kinase Anchor ProteinsCytoskeletal ProteinsAfrican AmericanAKAP9Genetic associationLate-onset Alzheimer's diseaseRare variantWhole-exome sequencing

Identifiers

PMID25172201
PMCPMC4253055
OpenAlexW2160563611

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.