The 'etiome': identification and clustering of human disease etiological factors
2009

The Etiome: Identifying Human Disease Causes

Sample size: 4173 publication Evidence: moderate

Author Information

Author(s): Liu Yueyi, Wise Paul H, Butte Atul J

Primary Institution: Stanford University School of Medicine

Hypothesis

Can we create a comprehensive list of environmental and genetic factors associated with human diseases?

Conclusion

The study successfully compiled a comprehensive list of associations between diseases and environmental factors, integrating genetic data to form the 'etiome' for 863 diseases.

Supporting Evidence

  • Identified 3,342 environmental factors associated with 3,159 diseases.
  • Integrated genetic factors from the NIH Genetic Association Database.
  • Clustering of factors may help clinicians understand disease risks.

Takeaway

This study is like making a big list of things that can make people sick, including both genes and things in the environment.

Methodology

The study used MeSH annotations from MEDLINE and the NIH Genetic Association Database to identify and cluster disease associations.

Potential Biases

There may be biases in how genetic associations are assigned, potentially leading to overrepresentation of certain relationships.

Limitations

The study does not include microorganisms that cause infectious diseases and may miss some gene-disease relationships.

Digital Object Identifier (DOI)

10.1186/1471-2105-10-S2-S14

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