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Related Experiment Videos

Genomic screening in family-based association testing.

Amy Murphy1, Matthew B McQueen, Jessica Su

  • 1Department of Biostatistics, Harvard School of Public Health, Boston, MA 02115, USA. amurphy@hsph.harvard.edu

BMC Genetics
|February 3, 2006
PubMed
Summary

Genome-wide association studies (GWAS) can identify disease genes, but multiple comparisons are a challenge. A new screening technique using family-based association testing effectively identifies promising single-nucleotide polymorphisms for analysis.

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Area of Science:

  • Genetics
  • Statistical genetics
  • Genomic association studies

Background:

  • Genome-wide association testing (GWAS) is increasingly feasible due to single-nucleotide polymorphism (SNP) data availability.
  • GWAS aims to confirm disease susceptibility loci and discover novel genetic determinants of disease.
  • The challenge of multiple comparisons can limit the power of GWAS to detect true associations.

Purpose of the Study:

  • To address the multiple comparisons problem in GWAS.
  • To evaluate a novel screening technique utilizing family-based association testing.
  • To compare the effectiveness of univariate and multivariate screening approaches.

Main Methods:

  • Employed a recently developed screening technique based on family-based association testing.

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  • Applied the screening methodology to identify promising single-nucleotide polymorphisms (SNPs) prior to full testing.
  • Compared screening results across univariate and multivariate family-based association tests.

    • Main Results:

    • The screening technique demonstrated consistency in identifying optimal markers across different analytical settings.
    • A specific marker, TSC0047225, showed significant association with the ttth1 and ttth1-ttth4 phenotypes (p = 0.004).
    • Both univariate and multivariate screening techniques proved effective in detecting genetic associations.

    Conclusions:

    • The developed screening technique successfully navigates the multiple comparisons issue in GWAS.
    • Family-based association testing combined with screening offers a powerful approach for genetic association detection.
    • The findings highlight the utility of screening methodologies for prioritizing SNPs in large-scale genetic studies.