Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

The bias introduced by population stratification in IBD based linkage analysis.

Tao Wang1, Robert C Elston

  • 1Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio 44106, USA.

Human Heredity
|December 2, 2005
PubMed
Summary

Population stratification can bias model-free linkage analysis for complex diseases when founder genotypes are missing. New methods are needed to ensure robust genetic association studies.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia.

Human molecular genetics·2024
Same author

Correction to: Patient Biochemistry and Treatment Need in Chronic Hepatitis B Virus Infection Across Three Continents: Retrospective Cross-Sectional Cohort Studies.

Infectious diseases and therapy·2023
Same author

Patient Biochemistry and Treatment Need in Chronic Hepatitis B Virus Infection Across Three Continents: Retrospective Cross-Sectional Cohort Studies.

Infectious diseases and therapy·2023
Same author

Familial Segregation of Venous Thromboembolism in Sweden: A Nationwide Family Study of Heritability and Complex Segregation Analysis.

Journal of the American Heart Association·2021
Same author

Newton E. Morton (1929-2018).

American journal of human genetics·2020
Same author

Local Ancestry Inference in Large Pedigrees.

Scientific reports·2020

Area of Science:

  • Genetics
  • Genetic Epidemiology
  • Biostatistics

Background:

  • Model-free linkage analyses for complex diseases lack replication, questioning their robustness to biases.
  • Population stratification is a known confounder in genetic association studies.
  • Model-free linkage analysis is generally considered robust to population stratification when founder genotypes are known.

Purpose of the Study:

  • To investigate the impact of population stratification on model-free linkage analysis when founder genotypes are unobserved.
  • To identify conditions under which population stratification can bias linkage analysis results for complex diseases.

Main Methods:

  • Demonstration of deleterious effects of population stratification on various model-free linkage methods with missing founder genotypes.

Related Experiment Videos

  • Analysis of affected sib pair designs and quantitative traits under differing subpopulation distributions.
  • Evaluation of bias mitigation strategies through inclusion of genotype data.

    • Main Results:

    • Population stratification can introduce false-positive findings in affected sib pair designs, even with homogeneous trait distribution.
    • For quantitative traits or with discordant sib pairs, bias occurs when both marker and trait distributions are heterogeneous across subpopulations.
    • Bias can manifest as either liberal (invalid) or conservative tests.

    Conclusions:

    • Missing founder genotypes render model-free linkage analysis vulnerable to population stratification bias.
    • Inclusion of founder or family member genotype data can eliminate or reduce bias.
    • Development of novel methods robust to population stratification is necessary when complete genotype data is unavailable.