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Related Experiment Videos

Candidate gene case-control association studies: advantages and potential pitfalls.

A K Daly1, C P Day

  • 1Centre for Liver Research, University of Newcastle upon Tyne, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK. A.K.Daly@newcastle.ac.uk

British Journal of Clinical Pharmacology
|December 12, 2001
PubMed
Summary

Genetic polymorphisms are key to identifying disease-linked genes. Both family and case-control studies help, but careful design is crucial for accurate association findings in complex diseases.

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Area of Science:

  • Genetics
  • Human Genomics
  • Disease Association Studies

Background:

  • Genetic polymorphisms are common variations in the human genome, occurring every 500-1000 base pairs.
  • These polymorphisms are valuable for identifying genes associated with human diseases.
  • Functionally significant polymorphisms offer greater utility in disease association studies than simple markers.

Purpose of the Study:

  • To review the importance of genetic polymorphisms in human disease identification.
  • To discuss two primary approaches for utilizing polymorphisms in polygenic disease research: family studies and case-control studies.
  • To highlight potential challenges and considerations in designing and interpreting genetic association studies.

Main Methods:

  • Examination of inheritance patterns in family studies.

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  • Comparison of genotype frequencies in case-control studies involving unrelated individuals.
  • Discussion of specific examples involving drug response and disease susceptibility genes (e.g., receptor genes, cytochrome P450, immune system genes).

    • Main Results:

    • Family studies are preferred when feasible due to disease strength, DNA availability, and ease of diagnosis.
    • Case-control studies serve as valuable alternatives or adjuncts to family studies.
    • Careful attention to study design, recruitment, polymorphism selection, and statistical analysis is essential for valid association findings.

    Conclusions:

    • Genetic polymorphisms are critical tools for understanding the genetic basis of human diseases.
    • Both family and case-control study designs have strengths and limitations that must be carefully managed.
    • Accurate interpretation of association studies requires rigorous methodology to avoid spurious results, especially when examining complex traits and drug responses.