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Related Experiment Videos

Sib-pair collection strategies for complex diseases

M I McCarthy1, L Kruglyak, E S Lander

  • 1Whitehead Institute for Biomedical Research, Cambridge, Massachusetts, USA. m.mccarthy@ic.ac.uk

Genetic Epidemiology
|July 22, 1998
PubMed
Summary

For complex trait locus discovery, random collection of affected sibling pairs is robust. This strategy minimizes power loss compared to optimal designs and avoids risks associated with specific family structures.

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Area of Science:

  • Genetics
  • Biostatistics
  • Bioinformatics

Background:

  • Genome-wide searches for complex trait loci require careful planning of affected sibling pair collection.
  • The optimal strategy depends on the trait's genetic architecture, which is often unknown for non-Mendelian diseases.

Purpose of the Study:

  • To evaluate the consequences of different affected sibling pair collection strategies for genomewide searches.
  • To compare the power and risks associated with specified versus random pedigree structures.
  • To assess the impact of imposing modest family structure limitations.

Main Methods:

  • Simulated genomewide searches using various family structures and ascertainment strategies.
  • Comparison of statistical power across different collection designs.

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  • Analysis of the trade-offs between power, effort, and resource availability.

    • Main Results:

    • Collecting all affected sibling pairs at random offers a robust strategy with modest power loss compared to unknowable optimal designs.
    • Specified pedigree structures can be risky due to dramatic power variations.
    • Imposing modest family structure limitations can increase power but requires additional resources.

    Conclusions:

    • Random ascertainment of affected sibling pairs is a practical and powerful approach for complex trait locus discovery.
    • Differences in ascertainment strategies may explain failures to replicate complex trait linkage findings.
    • The choice of collection strategy should consider disease-specific factors and available resources.