Mouse BMD Quantitative Trait Loci Show Improved Concordance With Human Genome-wide Association Loci When Recalculated on a New, Common Mouse Genetic Map
2010

Improved Mapping of Mouse Bone Density Genes

Sample size: 11 publication Evidence: high

Author Information

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

Primary Institution: The Jackson Laboratory

Hypothesis

Can a new genetic map improve the localization of quantitative trait loci (QTLs) for bone mineral density (BMD) in mice and their concordance with human genetic loci?

Conclusion

The new mouse genetic map has improved the localization of mouse BMD QTLs, showing high concordance with human genome-wide association study loci.

Supporting Evidence

  • 26 of the 28 human GWAS loci examined were located within the confidence interval of a mouse QTL.
  • 14 of the GWAS loci mapped to within 3 cM of a mouse QTL peak.
  • The study suggests MEF2C as a candidate gene for the genetic regulation of BMD.

Takeaway

Scientists used a new map to find genes in mice that affect bone density, and they found that many of these genes are also important in humans.

Methodology

QTLs for BMD were remapped in 11 archival mouse data sets using a new genetic map, and comparisons were made with human GWAS loci.

Potential Biases

Potential biases in the original data sets and mapping techniques could affect results.

Limitations

The study relies on existing data sets, which may have varying quality and completeness.

Participant Demographics

The study involved various mouse strains, but specific demographic details were not provided.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1002/jbmr.72

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