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Genome scan for association and linkage

P Holmans1, P McGuffin, D Clayton

  • 1Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, U.K.

Genetic Epidemiology
|January 1, 1995
PubMed
Summary

This study identified two disease-associated loci (1 and 2) using genome-wide association studies on the GAW Problem 1 data. Increased disease risk was observed in homozygote carriers of the disease allele at these loci.

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Area of Science:

  • Genetics
  • Statistical genetics
  • Genomic association studies

Background:

  • Genome-wide association studies (GWAS) are crucial for identifying genetic variants linked to diseases.
  • The GAW Problem 1 dataset provides a valuable resource for genetic linkage and association analysis.
  • Assessing genetic contributions to disease requires robust statistical methodologies, especially when inheritance patterns are unknown.

Purpose of the Study:

  • To perform a genome search on the GAW Problem 1 data to identify marker loci associated with a specific disease.
  • To employ methods that do not require prior assumptions about the mode of inheritance.
  • To evaluate the efficacy of different family-based association methods.

Main Methods:

  • A two-stage association testing procedure was utilized.
  • Stage 1 involved a standard unmatched case-control test for all marker loci.
  • Stage 2 applied the family-based method of Self et al. (1991) to loci showing significant results in Stage 1.
  • The affected sib pair method (Holmans, 1993) was also applied.

Main Results:

  • The two-stage procedure successfully detected loci 1 and 2 as associated with the disease.
  • Homozygote carriers of the disease allele at loci 1 and 2 showed increased disease risk.
  • A false positive result was also identified.
  • The affected sib pair analysis was ineffective due to an insufficient number of sib pairs.

Conclusions:

  • Genome search and association studies can identify disease-related loci even without assuming a mode of inheritance.
  • The identified loci (1 and 2) and the associated increased risk in homozygotes warrant further investigation.
  • Methodological choices, such as the number of sib pairs, significantly impact the power of genetic analyses.

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