Evidence map›Paper›PMID 37450379›Full record

ArticleAlzheimer's & dementia : the journal of the Alzheimer's Association2023

Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study.

Patrick M Sleiman, Hui-Qi Qu, John J Connolly, Frank Mentch, Alexandre Pereira, Paulo A Lotufo, Stephen Tollman, Ananyo Choudhury, Michele Ramsay, Norihiro Kato and 15 more

Open access · hybridAbstract read
In one paragraph

Article in Alzheimer's & dementia : the journal of the Alzheimer's Association, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.2field-weighted citation impact, top 11% 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

7 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Risk of Alzheimer's disease in Down syndrome: Insights gained by multi-omics.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Review
  7. Transethnic analysis identifies SORL1 variants and haplotypes protective against Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025
    Article
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

25 authors at 9 institutions in 7 countries.

Patrick M SleimanThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hui-Qi QuThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0001-9317-4488
John J ConnollyThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Frank MentchThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Alexandre PereiraFaculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Paulo A LotufoFaculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Stephen TollmanMRC/Wits Rural Public Health and Health Transitions Research Unit (Agincourt), School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Ananyo ChoudhurySydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Michele RamsaySydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Norihiro KatoNational Center for Global Health and Medicine, Tokyo, Japan.
Kouichi OzakiMedical Genome Center, Research Institute, National Center for Geriatrics and Gerontology (NCGG), Obu, Japan.
Risa MitsumoriMedical Genome Center, Research Institute, National Center for Geriatrics and Gerontology (NCGG), Obu, Japan.
Jae-Pil JeonKorea Biobank Project, Korea National Institute of Health, Osong, South Korea.
Chang Hyung HongDepartment of Psychiatry, Ajou University School of Medicine, Suwon, South Korea.
Sang Joon SonDepartment of Psychiatry, Ajou University School of Medicine, Suwon, South Korea.
Hyun Woong RohDepartment of Psychiatry, Ajou University School of Medicine, Suwon, South Korea.
Dong-Gi LeeDepartment of Psychiatry, Ajou University School of Medicine, Suwon, South Korea.
Naaheed MukadamPreventive Neurology Unit, Wolfson Institute of Population Health, Queen Mary University of London, London, UK.
Isabelle F FootePreventive Neurology Unit, Wolfson Institute of Population Health, Queen Mary University of London, London, UK.
Charles R MarshallPreventive Neurology Unit, Wolfson Institute of Population Health, Queen Mary University of London, London, UK.
Adam ButterworthMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Bram P PrinsMRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Joseph T GlessnerThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hakon HakonarsonThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.ORCID 0000-0003-2814-7461
Davos Alzheimer Collaborative and IHCC consortium
Children's Hospital of Philadelphia · USAjou University · KRQueen Mary University of London · GBUniversity of the Witwatersrand · ZANational Center for Geriatrics and Gerontology · JPUniversidade de São Paulo · BRUniversity of Cambridge · GBKorea National Institute of Health · KRNational Center for Global Health and Medicine · JP

Funding

Shared Core: Biobanking, Bioinformatics and Data ManagementU54HG006938 · NHGRI · WITS HEALTH CONSORTIUM (PTY), LTD · PI RAMSAY, MICHELE MICHELE · 2012 to 2022
$12.2M
Utilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics HealthcareU01HG011175 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI Hakon Hakonarson · 2020 to 2026
$10.3M
British Heart Foundation RG/13/13/30194British Heart Foundation RG/18/13/33946Medical Research Council MR/L003120/1NHGRI NIH HHS U01 HG011175NHGRI NIH HHS U54 HG006938Wellcome Trust
6 · The paper itself

Abstract

backgroundAs a collaboration model between the International HundredK+ Cohorts Consortium (IHCC) and the Davos Alzheimer's Collaborative (DAC), our aim was to develop a trans-ethnic genomic informed risk assessment (GIRA) algorithm for Alzheimer's disease (AD).

methodsThe GIRA model was created to include polygenic risk score calculated from the AD genome-wide association study loci, the apolipoprotein E haplotypes, and non-genetic covariates including age, sex, and the first three principal components of population substructure.

resultsWe validated the performance of the GIRA model in different populations. The proteomic study in the participant sites identified proteins related to female infertility and autoimmune thyroiditis and associated with the risk scores of AD.

conclusionsAs the initial effort by the IHCC to leverage existing large-scale datasets in a collaborative setting with DAC, we developed a trans-ethnic GIRA for AD with the potential of identifying individuals at high risk of developing AD for future clinical applications.

Indexed as

Alzheimer DiseaseFemaleGenome-Wide Association StudyGenomicsHumansProteomicsRisk AssessmentAlzheimer's diseasedata sharingfemale infertilitygenomic informed risk assessmentminority populationpolygenic risk scorethyroidtrans-ethnic

Identifiers

PMID37450379
PMCPMC10854406
OpenAlexW4384297729

What OpenQuestion holds

Textmetadata
LicenceTDM
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.