Identifying susceptibility genes by using joint tests of association and linkage and accounting for epistasis
2005

Identifying Susceptibility Genes Using Joint Tests

Sample size: 100 publication Evidence: moderate

Author Information

Author(s): Joshua Millstein, Kimberly D. Siegmund, David V. Conti, W. James Gauderman

Primary Institution: National Oceanic and Atmospheric Administration/National Marine Fisheries Service, Alaska Fisheries Science Center

Hypothesis

Can joint tests of association and linkage effectively identify susceptibility genes while accounting for gene interactions?

Conclusion

The study successfully identified four disease loci through a novel method that accounts for interactions while maintaining power for detecting main effects.

Supporting Evidence

  • The study identified significant joint effects of linkage and association in four disease regions.
  • A highly significant p-value was observed for SNP B03T3056.
  • The method controlled the false discovery rate at a significance level of 0.05.

Takeaway

The researchers looked for genes that might cause diseases by checking how different genes work together, and they found some important ones.

Methodology

The study used a candidate gene approach analyzing SNP data from affected sib-parent nuclear families and performed likelihood ratio tests for association and linkage.

Potential Biases

Potential biases due to population stratification and the assumptions of the model regarding risk patterns.

Limitations

The study faced challenges in detecting multilocus effects due to low power and the complexity of interactions across populations.

Participant Demographics

Participants included affected sib-pair-parent nuclear families from three populations: Aipotu, Kaarangar, and Danacaa.

Statistical Information

P-Value

1.98 × 10-34

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-2156-6-S1-S147

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