Evidence map›Paper›PMID 32937138›Full record

ArticleCell reports2020

Identification of a Core Module for Bone Mineral Density through the Integration of a Co-expression Network and GWAS Data.

Olivia L Sabik, Gina M Calabrese, Eric Taleghani, Cheryl L Ackert-Bicknell, Charles R Farber

Open access · goldAbstract read
In one paragraph

Article in Cell reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 5% 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

24 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.

  1. Pooled it
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  3. Review
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  5. Review
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  7. Article
  8. Review
  9. Genome-Wide Association Study of Reproductive Traits in Large White Pigs.Animals : an open access journal from MDPI · 2024
    Article
  10. Article
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  13. Article
  14. Single-Cell Transcriptomics of Bone Marrow Stromal Cells in Diversity Outbred Mice: A Model for Population-Level scRNA-Seq Studies.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023
    Article
  15. Article
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  18. NFEBS open bio · 2022
    Article
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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

5 authors at 2 institutions in 1 country.

Olivia L SabikCenter for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA.
Gina M CalabreseCenter for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA.
Eric TaleghaniCenter for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA.
Cheryl L Ackert-BicknellCenter for Musculoskeletal Research, University of Rochester Medical Center, University of Rochester, Rochester, NY 14624, USA.
Charles R FarberCenter for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA; Department of Public Health Sciences, University of Virginia, Charlottesville, VA 22908, USA. Electronic address: crf2s@virginia.edu.
University of Virginia · USUniversity of Rochester Medical Center · US

Funding

Mouse Phenotyping Informatics Infrastruture - MP12U54HG006370 · NHGRI · EUROPEAN MOLECULAR BIOLOGY LABORATORY · PI BROWN, STEVE, FLICEK, PAUL · 2011 to 2015
$11.4M
Systems Genetics of Osteoblast ActivityR01AR064790 · NIAMS · UNIVERSITY OF VIRGINIA · PI ACKERT-BICKNELL, CHERYL LYNNE, FARBER, CHARLES R · 2015 to 2019
$2.0M
NHGRI NIH HHS U54 HG006370NIAMS NIH HHS R01 AR064790
6 · The paper itself

Abstract

The "omnigenic" model of the genetic architecture of complex traits proposed two categories of causal genes: core and peripheral. Core genes are hypothesized to directly regulate disease and may serve as therapeutic targets. Using a cell-type- and time-point-specific gene co-expression network for mineralizing osteoblasts, we identify a co-expression module enriched for genes implicated by bone mineral density (BMD) genome-wide association studies (GWASs), correlated with in vitro osteoblast mineralization and associated with skeletal phenotypes in human monogenic disease and mouse knockouts. Four genes from this module (B4GALNT3, CADM1, DOCK9, and GPR133) are located within the BMD GWAS loci with colocalizing expression quantitative trait loci (eQTL) and exhibit altered BMD in mouse knockouts, suggesting that they are causal genetic drivers of BMD in humans. Our network-based approach identifies a "core" module for BMD and provides a resource for expanding our understanding of the genetics of bone mass.

Indexed as

Gene Expression RegulationGene Regulatory NetworksGenome-Wide Association StudyAnimalsAnimals, NewbornBone DensityCalcification, PhysiologicCell DifferentiationHumansMice, KnockoutOsteoblastsTranscription, GeneticTranscriptomebone mineral densityco-expression networkcore genesGWASosteoporosis

Identifiers

PMID32937138
PMCPMC8344123
OpenAlexW3085048482

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.