Evidence map›Paper›PMID 31144443›Full record

ArticleAging cell2019

CpG-related SNPs in the MS4A region have a dose-dependent effect on risk of late-onset Alzheimer disease.

Yiyi Ma, Gyungah R Jun, Jaeyoon Chung, Xiaoling Zhang, Brian W Kunkle, Adam C Naj, Charles C White, David A Bennett, Philip L De Jager, Alzheimer’s Disease Genetics Consortium and 6 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in Aging cell, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 36% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.

  1. Pooled it
  2. The Myeloid BiomarkerInternational journal of molecular sciences · 2025
    Article
  3. DNA Methylation in Alzheimer's Disease.Current topics in behavioral neurosciences · 2025
    Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Shared genetic etiology underlying late-onset Alzheimer's disease and posttraumatic stress syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2020
    Article
  9. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 7 institutions in 1 country.

Yiyi MaDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts.ORCID 0000-0002-3609-8877
Gyungah R JunDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts.
Jaeyoon ChungDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts.
Xiaoling ZhangDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts.
Brian W KunkleJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida.
Adam C NajDepartment of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Charles C WhiteProgram in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry, Brigham and Women's, Boston, Massachusetts.
David A BennettRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois.
Philip L De JagerCenter for Translational & Computational Neuroimmunology, Multiple Sclerosis Clinical Care and Research Center, Division of Neuroimmunology, Department of Neurology, Columbia University Medical Center, New York, New York.
Alzheimer’s Disease Genetics Consortium
Richard MayeuxDepartment of Neurology and Sergievsky Center, Columbia University, New York, New York.
Jonathan L HainesDepartment of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida.
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Lindsay A FarrerDepartment of Medicine (Biomedical Genetics), Boston University School of Medicine, Boston, Massachusetts.
Kathryn L LunettaDepartment of Biostatistics, Boston University School of Public Health, Boston, Massachusetts.
Boston University · USBroad Institute · USUniversity of Miami · USUniversity of Pennsylvania · USCase Western Reserve University · USColumbia University · USRush University Medical Center · 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
Alzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4M
THERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI JAYADEY, SUMAN · 1985 to 2019
$57.2M
VIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 1985 to 2018
$55.4M
WASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI MORRIS, JOHN · 1985 to 2019
$52.1M
SUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1991 to 2020
$49.1M
Satellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3M
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
THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3M
THE ROLE OF ADVANCED CAA IN ALZHEIMER'S DEMENTIAP50AG005134 · NIA · MASSACHUSETTS GENERAL HOSPITAL · PI HYMAN, BRADLEY T. · 1985 to 2018
$42.1M
Medical Research Council G0300429Medical Research Council G0701075Medical Research Council G0901254Medical Research Council G0902227Medical Research Council MR/K013041/1Medical Research Council MR/K01417X/1Medical Research Council MR/L023784/1Medical Research Council MR/L023784/2Medical Research Council MR/L501517/1Medical Research Council MR/L501542/1Medical Research Council MR/M009076/1Medical Research Council MR/N026004/1NIA NIH HHS P30 AG008017NIA NIH HHS P30 AG008051NIA NIH HHS P30 AG010124NIA NIH HHS P30 AG010129NIA NIH HHS P30 AG010133NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG012300NIA NIH HHS P30 AG013846NIA NIH HHS P30 AG013854NIA NIH HHS P30 AG019610NIA NIH HHS P30 AG028383NIA NIH HHS P30 AG035982NIA NIH HHS P30 AG049638NIA NIH HHS P30 AG053760NIA NIH HHS P30-AG10161NIA NIH HHS P50 AG005131NIA NIH HHS P50 AG005133NIA NIH HHS P50 AG005134NIA NIH HHS P50 AG005136NIA NIH HHS P50 AG005138NIA NIH HHS P50 AG005142NIA NIH HHS P50 AG005146NIA NIH HHS P50 AG005681NIA NIH HHS P50 AG008702NIA NIH HHS P50 AG016573NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG023501NIA NIH HHS P50 AG025688NIA NIH HHS P50 AG033514NIA NIH HHS P50 AG047266NIA NIH HHS P50 AG047270NIA NIH HHS P50 AG047366NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG036042NIA NIH HHS R01 AG048927NIA NIH HHS R01-AG048927NIA NIH HHS R01-AG17917NIA NIH HHS R01-AG36042NIA NIH HHS RC2 AG036528NIA NIH HHS RF1 AG036042NIA NIH HHS RF1 AG054023NIA NIH HHS RF1 AG057519NIA NIH HHS RF1-AG057519NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG046152NIA NIH HHS U01-AG46152NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG041689NIA NIH HHS U24-AG041689-01NIA NIH HHS U24 AG056270Parkinson's UK G-0907
6 · The paper itself

Abstract

CpG-related single nucleotide polymorphisms (CGS) have the potential to perturb DNA methylation; however, their effects on Alzheimer disease (AD) risk have not been evaluated systematically. We conducted a genome-wide association study using a sliding-window approach to measure the combined effects of CGSes on AD risk in a discovery sample of 24 European ancestry cohorts (12,181 cases, 12,601 controls) from the Alzheimer's Disease Genetics Consortium (ADGC) and replication sample of seven European ancestry cohorts (7,554 cases, 27,382 controls) from the International Genomics of Alzheimer's Project (IGAP). The potential functional relevance of significant associations was evaluated by analysis of methylation and expression levels in brain tissue of the Religious Orders Study and the Rush Memory and Aging Project (ROSMAP), and in whole blood of Framingham Heart Study participants (FHS). Genome-wide significant (p < 5 × 10

Indexed as

Polymorphism, Single NucleotideAgedAged, 80 and overAlzheimer DiseaseBrainCohort StudiesCpG IslandsDinucleoside PhosphatesDNA MethylationFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMembrane ProteinsMiddle AgedCpG dinucleotideDinucleoside PhosphatesMembrane ProteinsMS4A4A protein, humanAlzheimer diseaseDNA methylationepigeneticseQTLgeneticsmQTL

Identifiers

PMID31144443
PMCPMC6612647
OpenAlexW2947179443

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.