Evidence map›Paper›PMID 37952397›Full record

ArticleNeurobiology of aging2024

Genetic analyses in multiplex families confirms chromosome 5q35 as a risk locus for Alzheimer's Disease in individuals of African Ancestry.

Karen Nuytemans, Farid Rajabli, Melissa Jean-Francois, Jiji Thulaseedhara Kurup, Larry D Adams, Takiyah D Starks, Patrice L Whitehead, Brian W Kunkle, Allison Caban-Holt, Jonathan L Haines and 8 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.9field-weighted citation impact, top 19% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

18 authors at 5 institutions in 1 country.

Karen NuytemansJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Farid RajabliJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Melissa Jean-FrancoisJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Jiji Thulaseedhara KurupGertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Larry D AdamsJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Takiyah D StarksMaya Angelou Center for Health Equity, Wake Forest University, Winston-Salem, NC, USA.
Patrice L WhiteheadJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Brian W KunkleJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Allison Caban-HoltMaya Angelou Center for Health Equity, Wake Forest University, Winston-Salem, NC, USA.
Jonathan L HainesCleveland Institute for Computational Biology, Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Michael L CuccaroJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Jeffery M VanceJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Goldie S ByrdMaya Angelou Center for Health Equity, Wake Forest University, Winston-Salem, NC, USA.
Gary W BeechamJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA.
Christiane ReitzGertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, Departments of Neurology, Psychiatry, and Epidemiology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address: mpericak@med.miami.edu.
NIA-LOAD Family-Based Study
Alzheimer’s Disease Sequencing Project
University of Miami · USWake Forest University · USColumbia University · USCase Western Reserve University · USDr. John T. Macdonald Foundation · 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
Recruitment and Retention for Alzheimer's Disease Diversity Genetic Cohorts in the ADSP (READD-ADSP)U19AG074865 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI GOLDIE S. BYRD, William S Bush · 2022 to 2026
$55.3M
Whole Genome Sequencing in Ethnically Diverse Cohorts for the ADSP Follow-Up Study (FUS)U01AG057659 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MAYEUX, RICHARD P, PERICAK-VANCE, MARGARET A. · 2017 to 2021
$34.4M
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
The Origins of Alzheimer Disease in African AmericansR01AG072547 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Rufus Olusola Akinyemi, GOLDIE S. BYRD · 2022 to 2026
$26.1M
Harmonization of Additional Data Sets for the Alzheimer's Disease Sequencing Project (ADSP) Follow-Up Study (FUS)U01AG062943 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MAYEUX, RICHARD P, PERICAK-VANCE, MARGARET A. · 2019 to 2021
$10.8M
Replication and Extension of ADSP Discoveries in African-AmericansU01AG052410 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BEECHAM, GARY WAYNE, BYRD, GOLDIE S. · 2016 to 2020
$5.2M
Genetic basis of neuropsychiatric symptoms in Alzheimer's diseaseU01AG079850 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Gary Wayne Beecham, Edward D Huey · 2023 to 2026
$3.0M
The Origins of Alzheimer Disease in Individuals of African AncestryR56AG072547 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BEECHAM, GARY WAYNE, BYRD, GOLDIE S. · 2021 to 2021
$3.0M
Neuroanatomical associations with the factor structure underlying neuropsychiatric symptoms in Alzheimer's diseaseR01AG062268 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HUEY, EDWARD D · 2018 to 2022
$2.5M
Using RDoC Negative and Positive Valence Paradigms to Investigate the Mechanisms of Neuropsychiatric Symptoms (NPS) in Alzheimer's Disease and Related DementiasR01MH120794 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HUEY, EDWARD D · 2019 to 2023
$2.1M
NIA NIH HHS R01 AG062268NIA NIH HHS R01 AG072547NIA NIH HHS R56 AG072547NIA NIH HHS U01 AG052410NIA NIH HHS U01 AG057659NIA NIH HHS U01 AG062943NIA NIH HHS U01 AG079850NIA NIH HHS U19 AG074865NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG056270NIMH NIH HHS R01 MH120794
6 · The paper itself

Abstract

There is a paucity of genetic studies of Alzheimer Disease (AD) in individuals of African Ancestry, despite evidence suggesting increased risk of AD in the African American (AA) population. We performed whole-genome sequencing (WGS) and multipoint linkage analyses in 51 multi-generational AA AD families ascertained through the Research in African American Alzheimer Disease Initiative (REAAADI) and the National Institute on Aging Late Onset Alzheimer's disease (NIA-LOAD) Family Based Study. Variants were prioritized on minor allele frequency (<0.01), functional potential of coding and noncoding variants, co-segregation with AD and presence in multi-ancestry ADSP release 3 WGS data. We identified a significant linkage signal on chromosome 5q35 (HLOD=3.3) driven by nine families. Haplotype segregation analysis in the family with highest LOD score identified a 3'UTR variant in INSYN2B with the most functional evidence. Four other linked AA families harbor within-family shared variants located in INSYN2B's promoter or enhancer regions. This AA family-based finding shows the importance of diversifying population-level genetic data to better understand the genetic determinants of AD on a global scale.

Indexed as

Alzheimer DiseaseChromosomesGenetic LinkageGenetic Predisposition to DiseaseHaplotypesHumansLod ScoreAfrican ancestryAlzheimer diseaseChromosome 5Genetic linkageUnderserved populations

Identifiers

PMID37952397
PMCPMC11131578
OpenAlexW4388039264

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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.