Evidence map›Paper›PMID 33902942›Full record

ArticleNeurobiology of aging2021

Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus.

Farid Rajabli, Briseida E Feliciano-Astacio, Holly N Cukier, Liyong Wang, Anthony J Griswold, Kara L Hamilton-Nelson, Larry D Adams, Vanessa C Rodriguez, Pedro R Mena, Sergio Tejada and 21 more

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In one paragraph

Article in Neurobiology of aging, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

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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

31 authors at 8 institutions in 3 countries.

Farid RajabliJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Briseida E Feliciano-AstacioUniversidad Central del Caribe, Bayamón, PR, USA.
Holly N CukierJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Liyong WangJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Anthony J GriswoldJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Kara L Hamilton-NelsonJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Larry D AdamsJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Vanessa C RodriguezJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Pedro R MenaJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Sergio TejadaJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Katrina CelisJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Patrice L WhiteheadJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Derek J Van BoovenJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Natalia K HofmannJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Parker L BussiesJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Michael ProughJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Angel ChineaUniversidad Central del Caribe, Bayamón, PR, USA.
Nereida I FelicianoHospital De Psiquiatría Estatal Dr. Ramón Fernández Marina-Centro Médico, San Juan, PR, USA.
Badri N VardarajanDepartments of Neurology, Psychiatry, and Epidemiology, Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Christiane ReitzDepartments of Neurology, Psychiatry, and Epidemiology, Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Joseph H LeeDepartments of Neurology, Psychiatry, and Epidemiology, Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Martin J PrinceDepartment of Epidemiological Psychiatry, Centre for Public Mental Health, Institute of Psychiatry, King's College, London, UK.
Ivonne Z JimenezUniversity of Puerto Rico School of Medicine, San Juan, PR, USA.
Richard P MayeuxDepartments of Neurology, Psychiatry, and Epidemiology, Gertrude H. Sergievsky Center, Taub Institute for Research on the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Heriberto AcostaClinica de la Memoria, San Juan, PR, USA.
Clifton L DalgardUniformed Services University of the Health Sciences, Bethesda, MD, USA.
Jonathan L HainesDepartment of Population & Quantitative Health Sciences, Cleveland Institute for Computational Biology, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Jeffery M VanceJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Michael L CuccaroJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Gary W BeechamJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address: mpericak@med.miami.edu.
University of Miami · USColumbia University · USDr. John T. Macdonald Foundation · USCentral University of the Caribbean · PRCase Western Reserve University · USKing's College London · GBUniformed Services University of the Health Sciences · USUniversity of Puerto Rico System · PR

Funding

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
Research Education CoreP30AG066462 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Miguel Arce · 2020 to 2026
$30.1M
The Alzheimer Disease Sequence Analysis CollaborativeU01AG058654 · NIA · CASE WESTERN RESERVE UNIVERSITY · PI BUSH, WILLIAM S, FARRER, LINDSAY A. · 2018 to 2022
$14.6M
Genomic Characterization of Alzheimer Disease Risk in Admixed Populations with Native American and Southern European Genetic AncestryR01AG070864 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Margaret A. Pericak-Vance, FARID RAJABLI · 2021 to 2026
$12.1M
Genomic Characterization of Alzheimer's Disease Risk in the Puerto Rican PopulationRF1AG054074 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI BEECHAM, GARY WAYNE, PERICAK-VANCE, MARGARET A. · 2016 to 2018
$8.0M
NIA NIH HHS P30 AG066462NIA NIH HHS R01 AG070864NIA NIH HHS RF1 AG054074NIA NIH HHS U01 AG057659NIA NIH HHS U01 AG058654
6 · The paper itself

Abstract

The genetic admixture of Caribbean Hispanics provides an opportunity to discover novel genetic factors in Alzheimer disease (AD). We sought to identify genetic variants for AD through a family-based design using the Puerto Rican (PR) Alzheimer Disease Initiative (PRADI). Whole-genome sequencing (WGS) and parametric linkage analysis were performed for 100 individuals from 23 multiplex PRADI families. Variants were prioritized by minor allele frequency (<0.01), functional potential [combined annotation dependent depletion score (CADD) >10], and co-segregation with AD. Variants were further ranked using an independent PR case-control WGS dataset (PR10/66). A genome-wide significant linkage peak was found in 9p21 with a heterogeneity logarithm of the odds score (HLOD) >5.1, which overlaps with an AD linkage region from two published independent studies. The region harbors C9orf72, but no expanded repeats were observed in the families. Seven variants prioritized by the PRADI families also displayed evidence for association in the PR10/66 (p < 0.05), including a missense variant in UNC13B. Our study demonstrated the importance of family-based design and WGS in genetic study of AD.

Indexed as

Genetic LinkageGenome-Wide Association StudyAlzheimer DiseaseC9orf72 ProteinChromosomes, Human, Pair 9Genetic VariationHispanic or LatinoHumansNerve Tissue ProteinsWhole Genome SequencingC9orf72 ProteinC9orf72 protein, humanNerve Tissue ProteinsUNC13B protein, humanAlzheimer diseaseChromosome 9Genetic linkagePuerto RicansUnderserved populations

Identifiers

PMID33902942
PMCPMC8851406
OpenAlexW3133577453

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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.