Evidence map›Paper›PMID 22832961›Full record

SynthesisTranslational psychiatry2012

Genome-wide association study of Alzheimer's disease.

M I Kamboh, F Y Demirci, X Wang, R L Minster, M M Carrasquillo, V S Pankratz, S G Younkin, A J Saykin, Alzheimer's Disease Neuroimaging Initiative, G Jun and 12 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Translational psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 151 papers, 12 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
151citing papers in PubMed, 12 pooled it
17.6field-weighted citation impact, top 1% 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

151 citing papers in PubMed, 12 syntheses or guidelines pooled it, 256 citations in OpenAlex.

  1. Sex-stratified genome-wide meta-analysis identifies novel loci for cognitive decline in older adults.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
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  13. New Genetic Associations Between Alzheimer's Disease and Its Key Risk Factors.Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society · 2026
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91 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

22 authors at 5 institutions in 1 country.

M I KambohDepartment of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA.
F Y Demirci
X Wang
R L Minster
M M Carrasquillo
V S Pankratz
S G Younkin
A J Saykin
Alzheimer's Disease Neuroimaging Initiative
G Jun
C Baldwin
M W Logue
J Buros
L Farrer
M A Pericak-Vance
J L Haines
R A Sweet
M Ganguli
E Feingold
S T Dekosky
O L Lopez
M M Barmada
University of Pittsburgh · USBoston University · USJacksonville College · USIndiana University School of MedicineUniversity of Miami · US

Funding

Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0M
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
TREATMENT OF DEPRESSION IN ALZHEIMER'S DISEASEP50AG005133 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI BECKER, JAMES T. · 1985 to 2019
$43.0M
Research Education ComponentP30AG010133 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI SAYKIN, ANDREW J · 1991 to 2020
$37.3M
UC Davis Alzheimer's Disease Core CenterP30AG010129 · NIA · UNIVERSITY OF CALIFORNIA DAVIS · PI DECARLI, CHARLES · 1991 to 2020
$28.3M
Mild Cognitive Impairment: A Prospective Community StudyR01AG023651 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI GANGULI, MARY · 2005 to 2020
$27.1M
Amyloid Imaging, VMCI, and Analysis for ADNIRC2AG036535 · NIA · NORTHERN CALIFORNIA INSTITUTE/RES/EDU · PI WEINER, MICHAEL W · 2009 to 2010
$23.8M
Mild Cognitive Impairment: A Prospective Community StudyR37AG023651 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Carmen Andreescu, MARY GANGULI · 2021 to 2026
$18.2M
Prediction of Psychosis in Alzheimer DiseaseR01AG027224 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI SWEET, ROBERT A · 2007 to 2021
$10.8M
Search for the Alzheimers GenesR01AG030653 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KAMBOH, M. ILYAS · 2009 to 2019
$7.7M
Memory Circuitry in MCI and Early Alzheimer’s Disease Prodrome: Molecular DriversR01AG019771 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI SAYKIN, ANDREW J · 2001 to 2021
$6.9M
PLASMA A BETA AS A SURROGATE GENETIC MARKER FOR LOADR01AG018023 · NIA · MAYO CLINIC JACKSONVILLE · PI YOUNKIN, STEVEN G · 2001 to 2012
$3.3M
CIHRNIA NIH HHS AG005133NIA NIH HHS AG023651NIA NIH HHS AG027224NIA NIH HHS AG030653NIA NIH HHS AG07562NIA NIH HHS AG18023NIA NIH HHS K01 AG030514NIA NIH HHS P30 AG010129NIA NIH HHS P30 AG010133NIA NIH HHS P30 AG10133NIA NIH HHS P50 AG005133NIA NIH HHS R01 AG007562NIA NIH HHS R01 AG018023NIA NIH HHS R01 AG019771NIA NIH HHS R01 AG023651NIA NIH HHS R01 AG027224NIA NIH HHS R01 AG030653NIA NIH HHS R01 AG19771NIA NIH HHS R37 AG023651NIA NIH HHS RC2 AG036535NIA NIH HHS U01 AG024904NIA NIH HHS U24 AG021886
6 · The paper itself

Abstract

In addition to apolipoprotein E (APOE), recent large genome-wide association studies (GWASs) have identified nine other genes/loci (CR1, BIN1, CLU, PICALM, MS4A4/MS4A6E, CD2AP, CD33, EPHA1 and ABCA7) for late-onset Alzheimer's disease (LOAD). However, the genetic effect attributable to known loci is about 50%, indicating that additional risk genes for LOAD remain to be identified. In this study, we have used a new GWAS data set from the University of Pittsburgh (1291 cases and 938 controls) to examine in detail the recently implicated nine new regions with Alzheimer's disease (AD) risk, and also performed a meta-analysis utilizing the top 1% GWAS single-nucleotide polymorphisms (SNPs) with P<0.01 along with four independent data sets (2727 cases and 3336 controls) for these SNPs in an effort to identify new AD loci. The new GWAS data were generated on the Illumina Omni1-Quad chip and imputed at ~2.5 million markers. As expected, several markers in the APOE regions showed genome-wide significant associations in the Pittsburg sample. While we observed nominal significant associations (P<0.05) either within or adjacent to five genes (PICALM, BIN1, ABCA7, MS4A4/MS4A6E and EPHA1), significant signals were observed 69-180 kb outside of the remaining four genes (CD33, CLU, CD2AP and CR1). Meta-analysis on the top 1% SNPs revealed a suggestive novel association in the PPP1R3B gene (top SNP rs3848140 with P = 3.05E-07). The association of this SNP with AD risk was consistent in all five samples with a meta-analysis odds ratio of 2.43. This is a potential candidate gene for AD as this is expressed in the brain and is involved in lipid metabolism. These findings need to be confirmed in additional samples.

Indexed as

Genome-Wide Association StudyAgedAged, 80 and overAlzheimer DiseaseApolipoprotein E4FemaleGenetic Association StudiesGenetic LociGenetic MarkersHumansMaleMiddle AgedOdds RatioPolymorphism, Single NucleotideRisk FactorsApolipoprotein E4Genetic Markers

Identifiers

PMID22832961
PMCPMC3365264
OpenAlexW2083320551

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.