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

Confounding from cryptic relatedness in case-control association studies.

Benjamin F Voight1, Jonathan K Pritchard

  • 1Department of Human Genetics, University of Chicago, Chicago, Illinois, USA. bvoight@uchicago.edu

Plos Genetics
|September 10, 2005
PubMed
Summary
This summary is machine-generated.

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

PanKbase Integrated Single-Cell Map: A Comprehensive Atlas of Human Pancreatic Islets.

bioRxiv : the preprint server for biology·2026
Same author

Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes.

Genetics·2026
Same author

Genetic variants affect diurnal glucose levels throughout the day.

Nature communications·2026
Same author

Buffering of gene dosage response curves for human complex traits.

Cell genomics·2026
Same author

Multi-ancestry polygenic risk scores for the prediction of type 2 diabetes and complications in diverse ancestries.

The lancet. Diabetes & endocrinology·2026
Same author

Regulatory network topology and the genetic architecture of gene expression.

Cell genomics·2026

Unrecognized kinship, or cryptic relatedness, can inflate false positive rates in genetic association studies. However, this confounding is usually negligible in well-designed studies of outbred populations.

Area of Science:

  • Genetics
  • Population Genetics
  • Statistical Genetics

Background:

  • Case-control association studies are crucial for identifying genetic variants linked to human diseases.
  • Unrecognized population structure is a known source of false positives in these studies.
  • The impact of cryptic relatedness (unknown kinship within study groups) on false positive rates has been less understood.

Purpose of the Study:

  • To formally model cryptic relatedness and assess its practical impact on genetic association studies.
  • To develop predictive expressions for confounding due to cryptic relatedness.
  • To evaluate the significance of cryptic relatedness in various population settings.

Main Methods:

  • Development of a formal mathematical model for cryptic relatedness.

Related Experiment Videos

  • Derivation of analytical expressions to predict confounding.
  • Analysis of observable parameters influencing confounding.
  • Application of the model to Hutterite population data for six phenotypes.

    • Main Results:

    • Analytical results indicate negligible confounding from cryptic relatedness in well-designed studies of outbred populations.
    • Studies with sampling bias towards relatives may experience inflated false positive rates.
    • Cryptic relatedness poses a significant concern in rapidly grown, recent founder populations.
    • Excess relatedness among cases in the Hutterite population was analyzed.

    Conclusions:

    • Cryptic relatedness is a manageable issue in most well-designed genetic association studies.
    • Careful sampling strategies are essential to mitigate false positives, especially in specific populations.
    • Founder populations require particular attention regarding cryptic relatedness in genetic studies.