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Related Experiment Videos

Association mapping: methodologies, strategies, and issues.

Lorena M Havill1, Thomas D Dyer

  • 1Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas 78245, USA. lhavill@darwin.sfbr.org

Genetic Epidemiology
|December 13, 2005
PubMed
Summary
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This study explores single-nucleotide polymorphisms (SNPs) for genetic association mapping of complex diseases. Researchers evaluated methods for identifying disease-related genes using SNP and microsatellite data.

Area of Science:

  • Genetics
  • Bioinformatics
  • Statistical Genetics

Background:

  • Advances in molecular genetic technology enable detailed characterization of genetic variation.
  • Single-nucleotide polymorphisms (SNPs) offer opportunities for identifying associations between genetic variations and disease phenotypes.

Purpose of the Study:

  • To explore the potential of SNP genotypes for association mapping of disease-related genes in family-based studies.
  • To investigate methodological issues in association mapping, including multiple testing and the use of SNP combinations and haplotypes.
  • To evaluate existing and introduce new/modified association mapping methods.

Main Methods:

  • Utilized real alcoholism susceptibility data (Collaborative Study on the Genetics of Alcoholism - COGA) and simulated personality-disorder susceptibility data.

Related Experiment Videos

  • Investigated association mapping using single nucleotide polymorphisms (SNPs), short tandem repeats (STRs), or a combination of both.
  • Introduced novel methods like the gamma random effects (GRE) model and the quantitative trait linkage disequilibrium (QTLD) test.

    • Main Results:

    • Evaluated the impact of multiple testing, SNP combinations, haplotypes, and linkage disequilibrium on SNP-based linkage.
    • Assessed the performance of existing association mapping methodologies.
    • Demonstrated the application of association-based methods to identify chromosomal regions linked to quantitative endophenotype variation and disease risk.

    Conclusions:

    • Association mapping using SNPs and/or microsatellite markers is a flexible approach for identifying genes contributing to complex diseases.
    • The diversity of methods highlights the adaptability of association mapping for genetic research.
    • These approaches are crucial for understanding the genetic basis of disease susceptibility.