Characterisation of Genome-Wide Association Epistasis Signals for Serum Uric Acid in Human Population Isolates
2011

Understanding Gene Interactions Affecting Serum Uric Acid Levels

Sample size: 1201 publication 10 minutes Evidence: moderate

Author Information

Author(s): Wei Wenhua, Hemani Gibran, Hicks Andrew A., Vitart Veronique, Cabrera-Cardenas Claudia, Navarro Pau, Huffman Jennifer, Hayward Caroline, Knott Sara A., Rudan Igor, Pramstaller Peter P., Wild Sarah H., Wilson James F., Campbell Harry, Dunlop Malcolm G., Hastie Nicholas, Wright Alan F., Haley Chris S.

Primary Institution: MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom

Hypothesis

Can gene-gene interactions (epistasis) explain variations in serum uric acid levels in human populations?

Conclusion

The study found that gene interactions involving the SLC2A9 gene significantly contribute to variations in serum uric acid levels.

Supporting Evidence

  • The SLC2A9 gene was found to interact with multiple loci affecting serum uric acid levels.
  • Epistasis signals were tested for replication in a Croatian population.
  • Gene ontology terms enriched by epistasis signals linked SUA levels to neurological disorders.

Takeaway

This study looked at how different genes work together to affect uric acid levels in our blood, which can impact health.

Methodology

A full pair-wise genome scan was performed in the Italian MICROS population to identify epistasis signals in serum uric acid levels.

Potential Biases

Potential overestimation of variance explained due to the large number of tests performed.

Limitations

The study's power was limited due to the small population size and the challenges of detecting epistatic interactions.

Participant Demographics

Participants were from the Italian MICROS population, with a sample size of 1201.

Statistical Information

P-Value

4.1e-17

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0023836

Want to read the original?

Access the complete publication on the publisher's website

View Original Publication