ArticleAnnals of clinical and translational neurology2018
Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.
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Article in Annals of clinical and translational neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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35citing papers in PubMed
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35 citing papers in PubMed, 51 citations in OpenAlex.
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- Generalizability of tau and amyloid plasma biomarkers in Alzheimer's disease cohorts of diverse genetic ancestries.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
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- Missense and loss-of-function variants at GWAS loci in familial Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Employing Informatics Strategies in Alzheimer's Disease Research: A Review from Genetics, Multiomics, and Biomarkers to Clinical Outcomes.Annual review of biomedical data science · 2024Review
- TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression.Nature communications · 2024Article
- Generalizability of Tau and Amyloid Plasma Biomarkers in Alzheimer's Disease Cohorts of Diverse Genetic Ancestries.medRxiv : the preprint server for health sciences · 2024Article
- Genetic analyses in multiplex families confirms chromosome 5q35 as a risk locus for Alzheimer's Disease in individuals of African Ancestry.Neurobiology of aging · 2024Article
- Age-Associated Changes in Endothelial Transcriptome and Epigenetic Landscapes Correlate With Elevated Risk of Cerebral Microbleeds.Journal of the American Heart Association · 2023Article
- The Early-Onset Alzheimer's Disease Whole-Genome Sequencing Project: Study design and methodology.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2023Article
- Genetics of Alzheimer's Disease in the African American Population.Journal of clinical medicine · 2023Review
- A global view of the genetic basis of Alzheimer disease.Nature reviews. Neurology · 2023Review
- Evaluation of Plasma Biomarkers for A/T/N Classification of Alzheimer Disease Among Adults of Caribbean Hispanic Ethnicity.JAMA network open · 2023Article
- Microglia in Alzheimer's disease: pathogenesis, mechanisms, and therapeutic potentials.Frontiers in aging neuroscience · 2023Review
- Progranulin mutations in clinical and neuropathological Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Genetic architecture of RNA editing regulation in Alzheimer's disease across diverse ancestral populations.Human molecular genetics · 2022Article
- Antioxidants in Alzheimer's Disease: Current Therapeutic Significance and Future Prospects.Biology · 2022Review
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Authors and funding
27 authors at 12 institutions in 3 countries.
Badri N VardarajanThe Taub Institute for Research on Alzheimer's Disease and the Aging Brain New York.
Sandra BarralThe Taub Institute for Research on Alzheimer's Disease and the Aging Brain New York.
James JaworskiDr. John T. Macdonald Foundation Department of Human Genetics The John P. Hussman Institute for Human Genomics Miami Florida.
Gary W BeechamDr. John T. Macdonald Foundation Department of Human Genetics The John P. Hussman Institute for Human Genomics Miami Florida.
Elizabeth BlueDivision of Medical Genetics Department of Medicine University of Washington Seattle Washington.
Giuseppe TostoThe Taub Institute for Research on Alzheimer's Disease and the Aging Brain New York.
Dolly Reyes-DumeyerThe Taub Institute for Research on Alzheimer's Disease and the Aging Brain New York.
Martin MedranoSchool of Medicine Mother and Teacher Pontifical Catholic University Santiago Dominican Republic.
Rafael LantiguaThe Taub Institute for Research on Alzheimer's Disease and the Aging Brain New York.
Adam NajSchool of Medicine University of Pennsylvania Philadelphia Pennsylvania.
Timothy ThorntonDepartment of Biostatistics University of Washington Seattle Washington.
Anita DeStefanoBoston University School of Medicine Boston Massachusetts.
Eden MartinDr. John T. Macdonald Foundation Department of Human Genetics The John P. Hussman Institute for Human Genomics Miami Florida.
Li-San WangSchool of Medicine University of Pennsylvania Philadelphia Pennsylvania.
Lisa BrownDepartment of Biostatistics University of Washington Seattle Washington.
William BushDepartment of Biostatistics and Epidemiology Case Western Reserve University Cleveland Ohio.
Cornelia van DuijnErasmus University Medical Center Rotterdam Netherlands.
Allison GoateMount Sinai School of Medicine New York New York.
Lindsay FarrerBoston University School of Medicine Boston Massachusetts.
Jonathan L HainesDepartment of Biostatistics and Epidemiology Case Western Reserve University Cleveland Ohio.
Eric BoerwinkleUniversity of Texas Houston Texas.
Gerard SchellenbergSchool of Medicine University of Pennsylvania Philadelphia Pennsylvania.
Ellen WijsmanDivision of Medical Genetics Department of Medicine University of Washington Seattle Washington.
Margaret A Pericak-VanceDr. John T. Macdonald Foundation Department of Human Genetics The John P. Hussman Institute for Human Genomics Miami Florida.
Richard MayeuxThe Taub Institute for Research on Alzheimer's Disease and the Aging Brain New York.
Alzheimer's Disease Sequencing Project
Li-San WangThe Taub Institute for Research on Alzheimer's Disease and the Aging Brain New York.
Dr. John T. Macdonald Foundation · USColumbia University · USUniversity of Pennsylvania · USBoston University · USCase Western Reserve University · USNewYork–Presbyterian Hospital · USUniversity of Washington · USUniversity of Washington Medical Center · USErasmus MC · NLIcahn School of Medicine at Mount Sinai · USNew York Hospital Queens · USPontificia Universidad Católica Madre y Maestra · DO
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MLarge Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MNational 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
$119.8MNATIONAL ALZHEIMERS COORDINATING CENTER (NACC)U01AG016976 · NIA · UNIVERSITY OF WASHINGTON · PI KUKULL, WALTER ANTHONY · 1999 to 2020
$72.8MSmartphone-Based "Burst" Cognitive AssessmentsP01AG003991 · NIA · WASHINGTON UNIVERSITY · PI JOHN MORRIS · 1985 to 2026
$69.5MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MTHERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI GRABOWSKI, THOMAS J. · 1985 to 2019
$57.2MWASHINGTON UNIVERSITY ALZHEIMERS DISEASE RESEARCH CENTERP50AG005681 · NIA · WASHINGTON UNIVERSITY · PI FAGAN, ANNE · 1985 to 2019
$52.1MTHE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3MGenome Center for Alzheimer's Disease (GCAD)U54AG052427 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2016 to 2025
$32.8MThe 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
$31.4MNHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003079NHGRI NIH HHS U54 HG003273NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH HHS R01 HL105756NHLBI NIH HHS RC2 HL102419NHLBI NIH HHS U01 HL080295NHLBI NIH HHS U01 HL130114NIA NIH HHS P01 AG003991NIA NIH HHS P50 AG005136NIA NIH HHS P50 AG005681NIA NIH HHS R01 AG015928NIA NIH HHS R01 AG020098NIA NIH HHS R01 AG023629NIA NIH HHS R01 AG033193NIA NIH HHS R01 AG041797NIA NIH HHS R37 AG015473NIA NIH HHS R56 AG051876NIA NIH HHS RF1 AG015473NIA NIH HHS RF1 AG054023NIA NIH HHS T32 AG052354NIA NIH HHS U01 AG016976NIA NIH HHS U01 AG032984NIA NIH HHS U01 AG049505NIA NIH HHS U01 AG049506NIA NIH HHS U01 AG049507NIA NIH HHS U01 AG049508NIA NIH HHS U01 AG052410NIA NIH HHS U01 AG052411NIA NIH HHS U01 AG058654NIA NIH HHS U24 AG021886NIA NIH HHS U24 AG041689NIA NIH HHS U24 AG056270NIA NIH HHS U54 AG052427NIA NIH HHS UF1 AG047133
Abstract
objectiveTo identify rare causal variants underlying known loci that segregate with late-onset Alzheimer's disease (LOAD) in multiplex families.
methodsWe analyzed whole genome sequences (WGS) from 351 members of 67 Caribbean Hispanic (CH) families from Dominican Republic and New York multiply affected by LOAD. Members of 67 CH and additional 47 Caucasian families underwent WGS as a part of the Alzheimer's Disease Sequencing Project (ADSP). All members of 67 CH families, an additional 48 CH families and an independent CH case-control cohort were subsequently genotyped for validation. Patients met criteria for LOAD, and controls were determined to be dementia free. We investigated rare variants segregating within families and gene-based associations with disease within LOAD GWAS loci.
resultsA variant in CONCLUSIONS AND RELEVANCE: Rare variants in multiple genes influence the risk of LOAD disease in multiplex families. These results suggest that rare variants may underlie loci identified in genome wide association studies.
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