Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Segregation analysis comparing liability and quantitative trait models for hypertension using the Genetic Analysis

G P Crockford¹, D T Bishop, J H Barrett

¹Genetic Epidemiology Division, Cancer Research UK Clinical Centre in Leeds, Cancer Genetics Building, St James's University Hospital, Beckett Street, Leeds, United Kingdom. g.crockford@cancer.org.uk

|February 21, 2004

Summary

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

Genome-wide association studies and Mendelian randomization analyses provide insights into the causes of early-onset colorectal cancer.

Annals of oncology : official journal of the European Society for Medical Oncology·2024

Same author

Risk factors for melanoma by anatomical site: an evaluation of aetiological heterogeneity.

The British journal of dermatology·2020

Same author

Clinical and molecular characteristics and treatment outcomes of advanced right-colon, left-colon and rectal cancers: data from 1180 patients in a phase III trial of panitumumab with an extended biomarker panel.

Annals of oncology : official journal of the European Society for Medical Oncology·2020

Same author

Vitamin D-VDR Signaling Inhibits Wnt/β-Catenin-Mediated Melanoma Progression and Promotes Antitumor Immunity.

Cancer research·2019

Same author

Environmental Exposures Such as Smoking and Low Vitamin D Are Predictive of Poor Outcome in Cutaneous Melanoma rather than Other Deprivation Measures.

The Journal of investigative dermatology·2019

Same author

Development and external validation study of a melanoma risk prediction model incorporating clinically assessed naevi and solar lentigines.

The British journal of dermatology·2019

Segregation analysis can identify major gene and polygenic components for complex traits like hypertension. However, simple models may not accurately estimate parameters for these complex diseases.

Area of Science:

Genetics
Biostatistics
Complex Trait Analysis

Background:

The liability model assumes an underlying quantitative trait for discrete data analysis.
Its appropriateness for complex traits, such as systolic blood pressure, remains uncertain.

Purpose of the Study:

To evaluate segregation analysis using the liability model for dichotomized hypertension status.
To compare this with analyzing systolic blood pressure as a quantitative trait.

Main Methods:

Utilized Genetic Analysis Workshop 13 simulated data with 1050 pedigrees.
Performed segregation analysis on hypertensive status (qualitative) and systolic blood pressure (quantitative).

Main Results:

Both analyses identified models with major genes and polygenic components for systolic blood pressure aggregation.

Related Experiment Videos

Neither method accurately estimated true parameters due to model complexity.

Conclusions:

Segregation analysis with simple models for complex diseases may not yield precise parameter estimates.
However, it can indicate the presence of major gene and/or polygenic influences in familial aggregation.