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Laboratory mouse models for the human genome-wide associations
Georgios D Kitsios1, Navdeep Tangri, Peter J Castaldi
1Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, Boston, Massachusetts, United States of America.
Plos One
|November 13, 2010
Summary
Genome-wide association studies (GWAS) identify new genes, and mouse models help understand their function. This study found significant concordance between human GWAS findings and mouse models, aiding biological insight and future research.
Area of Science:
- Genetics and Genomics
- Translational Medicine
- Comparative Biology
Background:
- Genome-wide association studies (GWAS) have revealed associations with previously unknown genes.
- Understanding the functional roles of these genes is critical for advancing biological knowledge.
- Laboratory mouse models are valuable tools for investigating gene function.
Purpose of the Study:
- To systematically compare human GWAS-discovered loci with mouse models.
- To assess the availability of mouse model data for human GWAS genes.
- To gain biological insights into gene function and explore cross-species concordance.
Main Methods:
- Utilized publicly available data from the NHGRI database (human associations) and Mouse Genome Informatics (mouse models).
- Employed both phenotype-centric and gene-centric approaches for cross-species comparisons.
- Evaluated 293 human gene-phenotype associations, focusing on 51 comparable phenotypes between humans and mice.
Main Results:
- A significant concordance (27 ortholog genes) was found between human GWAS phenotypes and mouse models (p<0.001).
- Knockout models were available for 60% of the studied genes, with 35% exhibiting lethality.
- For non-lethal knockouts, 71% showed involvement of the same organ system in mice and humans (p<0.001).
Conclusions:
- Mouse models offer a wealth of information for human GWAS, providing insights into gene function.
- The study identified hypothesis-generating findings for further GWAS analyses.
- There is a significant and informative concordance between human and mouse genetic associations.
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