Evidence map›Paper›PMID 20200990›Full record

ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2010

Mouse BMD quantitative trait loci show improved concordance with human genome-wide association loci when recalculated on a new, common mouse genetic map.

Cheryl L Ackert-Bicknell, David Karasik, Qian Li, Randy V Smith, Yi-Hsiang Hsu, Gary A Churchill, Beverly J Paigen, Shirng-Wern Tsaih

Abstract read
In one paragraph

Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed, 1 pooled it
–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

41 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.Developmental dynamics : an official publication of the American Association of Anatomists · 2026
    Review
  3. Genetic Associations with Pectus Excavatum: A Systematic Review.Current issues in molecular biology · 2026
    Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. In silico mapping of quantitative trait loci (QTL) regulating the milk ionome in mice identifies a milk iron locus on chromosome 1.Mammalian genome : official journal of the International Mammalian Genome Society · 2018
    Article
  14. Article
  15. Novel Genetic Variants Associated With Increased Vertebral Volumetric BMD, Reduced Vertebral Fracture Risk, and Increased Expression of SLC1A3 and EPHB2.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016
    Article
  16. Genetics of aging bone.Mammalian genome : official journal of the International Mammalian Genome Society · 2016
    Review
  17. Review
  18. Novel Genetic Loci Control Calcium Absorption and Femur Bone Mass as Well as Their Response to Low Calcium Intake in Male BXD Recombinant Inbred Mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016
    Article
  19. 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

8 authors.

Cheryl L Ackert-BicknellThe Jackson Laboratory, Bar Harbor, ME 04609, USA. cheryl.ackertb@jax.org
David Karasik
Qian Li
Randy V Smith
Yi-Hsiang Hsu
Gary A Churchill
Beverly J Paigen
Shirng-Wern Tsaih

Funding

Systems Genetic Analysis of Multi-parent CrossesR01GM070683 · NIGMS · JACKSON LABORATORY · PI BROMAN, KARL W, CHURCHILL, GARY A · 2004 to 2022
$6.8M
Shock Center for Aging Research at The Jackson Laborato*P30AG025707 · NIA · JACKSON LABORATORY · PI WOYCHIK, RICHARD P · 2005 to 2009
$4.1M
REPRODUCTIVE BIOLOGYT32HD007065 · NICHD · JACKSON LABORATORY · PI BRAUN, ROBERT E · 1985 to 2020
$2.6M
NEW WAYS TO FIND HUMAN BMD GENES USING MOUSE QTL MAPPINGR21AR053992 · NIAMS · HEBREW REHABILITATION CENTER FOR AGED · PI KARASIK, DAVID · 2007 to 2008
$511k
Examination of Co-inheritance of Bone Mineral Density, IGF-1 and LifespanF32AG034019 · NIA · JACKSON LABORATORY · PI ACKERT-BICKNELL, CHERYL LYNNE · 2009 to 2010
$77k
NIAMS NIH HHS AR053992NIAMS NIH HHS R21 AR053992NIA NIH HHS AG025707NIA NIH HHS AG034019NIA NIH HHS F32 AG034019NIA NIH HHS P30 AG025707NICHD NIH HHS HD7065-30NICHD NIH HHS T32 HD007065NIGMS NIH HHS GM070683NIGMS NIH HHS R01 GM070683
6 · The paper itself

Abstract

Bone mineral density (BMD) is a heritable trait, and in mice, over 100 quantitative trait loci (QTLs) have been reported, but candidate genes have been identified for only a small percentage. Persistent errors in the mouse genetic map have negatively affected QTL localization, spurring the development of a new, corrected map. In this study, QTLs for BMD were remapped in 11 archival mouse data sets using this new genetic map. Since these QTLs all were mapped in a comparable way, direct comparisons of QTLs for concordance would be valid. We then compared human genome-wide association study (GWAS) BMD loci with the mouse QTLs. We found that 26 of the 28 human GWAS loci examined were located within the confidence interval of a mouse QTL. Furthermore, 14 of the GWAS loci mapped to within 3 cM of a mouse QTL peak. Lastly, we demonstrated that these newly remapped mouse QTLs can substantiate a candidate gene for a human GWAS locus, for which the peak single-nucleotide polymorphism (SNP) fell in an intergenic region. Specifically, we suggest that MEF2C (human chromosome 5, mouse chromosome 13) should be considered a candidate gene for the genetic regulation of BMD. In conclusion, use of the new mouse genetic map has improved the localization of mouse BMD QTLs, and these remapped QTLs show high concordance with human GWAS loci. We believe that this is an opportune time for a renewed effort by the genetics community to identify the causal variants regulating BMD using a synergistic mouse-human approach.

Indexed as

Chromosome MappingGenome-Wide Association StudyAnimalsBone DensityCrosses, GeneticHumansMEF2 Transcription FactorsMiceMyogenic Regulatory FactorsQuantitative Trait LociReproducibility of ResultsMef2c protein, mouseMEF2 Transcription FactorsMyogenic Regulatory Factors

Identifiers

PMID20200990
PMCPMC3153351

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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.