Incorporating prior biological information in linkage studies increases power and limits multiple testing
2007

Linkage Studies and Gene Expression Analysis

Sample size: 194 publication Evidence: moderate

Author Information

Author(s): Lantieri Francesca, Rydbeck Halfdan, Griseri Paola, Ceccherini Isabella, Devoto Marcella

Primary Institution: Istituto G. Gaslini, Università degli Studi di Genova, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Università La Sapienza

Hypothesis

Can limiting the analysis to a small number of well-characterized candidate genes improve the detection of linkage in genetic studies?

Conclusion

The study identified a genomic region on chromosome 9q31 that may contain a common expression regulator for several genes involved in enteric nervous system development.

Supporting Evidence

  • The study identified a 'master regulator' locus for several genes involved in the enteric nervous system.
  • LOD scores above 2 were observed for specific traits in the analysis.
  • Bivariate analysis increased the power to detect linkage of related traits.

Takeaway

The researchers looked at specific genes to find out how they affect a part of the nervous system in the gut, and they found a key area in the DNA that might control these genes.

Methodology

The study used genome-wide linkage analysis on selected traits and followed up with bivariate analysis to identify common regulatory loci.

Limitations

The study was limited by the number of traits analyzed and the potential for multiple testing issues.

Participant Demographics

Participants were from 14 three-generation CEPH Utah families.

Statistical Information

P-Value

0.0005

Statistical Significance

p<0.05

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