Evidence map›Paper›PMID 37693453›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Key variants via Alzheimer's Disease Sequencing Project whole genome sequence data.

Yanbing Wang, Chloé Sarnowski, Honghuang Lin, Achilleas N Pitsillides, Nancy L Heard-Costa, Seung Hoan Choi, Dongyu Wang, Joshua C Bis, Elizabeth E Blue, Alzheimer’s Disease Neuroimaging Initiative (ADNI) and 9 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

19 authors.

Yanbing WangDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA, USA.
Chloé SarnowskiDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA, USA.
Honghuang LinDepartment of Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.
Achilleas N PitsillidesDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA, USA.
Nancy L Heard-CostaDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA, USA.
Seung Hoan ChoiDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA, USA.
Dongyu WangDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA, USA.
Joshua C BisCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
Elizabeth E BlueDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA, USA.
Alzheimer’s Disease Neuroimaging Initiative (ADNI)
Eric BoerwinkleHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Philip L De JagerCenter for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
Myriam FornageHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Ellen M WijsmanDiv. of Medical Genetics and Dept. Biostatistics Statistical Genetics Lab, University of Washington, Seattle, WA, USA.
Sudha SeshadriThe Framingham Heart Study, Framingham, MA, USA.
Josée DupuisDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA, USA.
Gina M PelosoDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA, USA.
Anita L DeStefanoDepartment of Biostatistics, Boston University, School of Public Health, Boston, MA, USA.
Alzheimer’s Disease Sequencing Project (ADSP)

Funding

Alzheimer's Disease Neuroimaging Initiative - SupplementU01AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE RES &EDUC · PI WEINER, MICHAEL W · 2004 to 2015
$121.0M
THE NIA GENETICS OF ALZHEIMER'S DISEASE DATA STORAGE SITEU24AG041689 · NIA · UNIVERSITY OF PENNSYLVANIA · PI LI-SAN WANG · 2012 to 2026
$42.3M
Therapeutic target discovery in ADSP data via comprehensive whole-genome analysis incorporating ethnic diversity and systems approachesU01AG058589 · NIA · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BOERWINKLE, ERIC A., DE JAGER, PHILIP L · 2018 to 2022
$11.1M
Assessing Alzheimer disease risk and heterogeneity using multimodal machine learning approachesU01AG068221 · NIA · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI DESTEFANO, ANITA L, LIN, HONGHUANG · 2021 to 2024
$2.5M
Exploring Common Biological Pathways Underlying Insulin Resistance and Alzheimer Disease using Genetic and Omic ToolsR00AG066849 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI SARNOWSKI, CHLOÉ · 2022 to 2024
$726k
NIA NIH HHS R00 AG066849NIA NIH HHS U01 AG024904NIA NIH HHS U01 AG058589NIA NIH HHS U01 AG068221NIA NIH HHS U24 AG041689
6 · The paper itself

Abstract

introductionGenome-wide association studies (GWAS) have identified loci associated with Alzheimer's disease (AD) but did not identify specific causal genes or variants within those loci. Analysis of whole genome sequence (WGS) data, which interrogates the entire genome and captures rare variations, may identify causal variants within GWAS loci.

methodsWe performed single common variant association analysis and rare variant aggregate analyses in the pooled population (N cases=2,184, N controls=2,383) and targeted analyses in sub-populations using WGS data from the Alzheimer's Disease Sequencing Project (ADSP). The analyses were restricted to variants within 100 kb of 83 previously identified GWAS lead variants.

resultsSeventeen variants were significantly associated with AD within five genomic regions implicating the genes OARD1/NFYA/TREML1, JAZF1, FERMT2, and SLC24A4. KAT8 was implicated by both single variant and rare variant aggregate analyses. DISCUSSION: This study demonstrates the utility of leveraging WGS to gain insights into AD loci identified via GWAS.

Indexed as

Alzheimer’s diseaseAssociation AnalysesDiverse PopulationsGenome Wide Association StudySingle Nucleotide VariationsWhole Genome Sequencing

Identifiers

PMID37693453
PMCPMC10491364

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.