Evidence map›Paper›PMID 26830138›Full record

SynthesisMolecular psychiatry2016

Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

C Herold, B V Hooli, K Mullin, T Liu, J T Roehr, M Mattheisen, A R Parrado, L Bertram, C Lange, R E Tanzi

Open access · bronzeAbstract readMeta-Analysis
In one paragraph

Synthesis in Molecular psychiatry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
73citing papers in PubMed, 1 pooled it
9.3field-weighted citation impact, top 2% 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

73 citing papers in PubMed, 1 synthesis or guideline pooled it, 118 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. 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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  10. Genetic drivers of progression in Alzheimer's disease are distinct from disease risk.medRxiv : the preprint server for health sciences · 2025
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  14. Review
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13 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

10 authors at 6 institutions in 4 countries.

C HeroldGerman Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
B V HooliGenetics and Aging Research Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
K MullinGenetics and Aging Research Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
T LiuDepartment of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
J T RoehrDepartment of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
M MattheisenDepartment of Biomedicine, Bartholins Allé 6, Aarhus, Denmark.
A R ParradoComputational Sciences, Janssen Research and Development, Pharmaceutical Company of Johnson and Johnson, Spring House, PA, USA.
L BertramDepartment of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany.
C LangeDepartment of Biostatistics, Harvard T.H Chan School of Public Health, Boston, MA, USA.
R E TanziGenetics and Aging Research Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
Massachusetts General Hospital · USHarvard University · USMax Planck Institute for Molecular Genetics · DEAarhus University · DKInstitute for Integrative and Experimental Genomics · DEJohnson & Johnson (United States) · 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
THE ROLE OF ADVANCED CAA IN ALZHEIMER'S DEMENTIAP50AG005134 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI HYMAN, BRADLEY T. · 1985 to 2018
$42.1M
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
SINGLE PHOTON EMISSION COMPUTED TOMOGRAPHY (SPECT)P01AG004953 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI BLACKER, DEBORAH L. · 1985 to 2006
$15.0M
Identification and Characterization of Novel AD GenesR37MH060009 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI TANZI, RUDOLPH EMILE · 2003 to 2012
$7.6M
SEARCH FOR NOVEL ALZHEIMERS DISEASE GENESR01MH060009 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI TANZI, RUDOLPH EMILE · 1999 to 2017
$5.4M
NIA NIH HHS P01 AG004953NIA NIH HHS P50 AG005134NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG056270NIMH NIH HHS R01 MH060009NIMH NIH HHS R37 MH060009
6 · The paper itself

Abstract

The genetic basis of Alzheimer's disease (AD) is complex and heterogeneous. Over 200 highly penetrant pathogenic variants in the genes APP, PSEN1, and PSEN2 cause a subset of early-onset familial AD. On the other hand, susceptibility to late-onset forms of AD (LOAD) is indisputably associated to the ɛ4 allele in the gene APOE, and more recently to variants in more than two-dozen additional genes identified in the large-scale genome-wide association studies (GWAS) and meta-analyses reports. Taken together however, although the heritability in AD is estimated to be as high as 80%, a large proportion of the underlying genetic factors still remain to be elucidated. In this study, we performed a systematic family-based genome-wide association and meta-analysis on close to 15 million imputed variants from three large collections of AD families (~3500 subjects from 1070 families). Using a multivariate phenotype combining affection status and onset age, meta-analysis of the association results revealed three single nucleotide polymorphisms (SNPs) that achieved genome-wide significance for association with AD risk: rs7609954 in the gene PTPRG (P-value=3.98 × 10

Indexed as

AgedAge of OnsetAllelesAlzheimer DiseaseApolipoproteins ECarrier ProteinsFamilyFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsGenotypeHumansMaleMiddle AgedApolipoproteins ECarrier ProteinsCDKAL1 protein, humanNerve Tissue ProteinsOxysterol Binding ProteinsPDCL3 protein, humanPTPRG protein, humanReceptor-Like Protein Tyrosine Phosphatases, Class 5Receptors, SteroidtRNA Methyltransferases

Identifiers

PMID26830138
PMCPMC4970971
OpenAlexW2410375143

What OpenQuestion holds

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Registered trials

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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.