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

Related Concept Videos

Gene-Environment Interactions

Gene-Environment Interactions

Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...

Background and Environment Affect Phenotype

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Epistasis Analysis

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

Behavioral Genetics and Its Designs

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...

Heritability

Heritability

Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic" a trait is,...

You might also read

Related Articles

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

Sort by

Same author

Relation of family history of suicide to suicide attempts in alcoholics.

The American journal of psychiatry·2000

Same author

[Autoimmune hepatitis in children. Initial presentation as fulminant hepatic failure].

Acta gastroenterologica Latinoamericana·2000

Same author

Malnutrition and hypernatraemia in breastfed babies.

Annals of tropical paediatrics·2000

Same author

Somatosensory evoked potentials associated with thermal activation of type II Adelta mechanoheat nociceptive afferents.

The International journal of neuroscience·2000

Same author

Coronary artery bypass grafting without cardiopulmonary bypass in pheochromocytoma.

The Journal of thoracic and cardiovascular surgery·2000

Same author

Rate limitations of unitary event analysis.

Neural computation·2000

Search research articles

Related Experiment Video

Updated: May 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Estimation of gene-environment interaction by pooling biospecimens.

M R Danaher¹, E F Schisterman, A Roy

¹Division of Epidemiology, Statistics and Prevention Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Rockville, MD, U.S.A.

Statistics in Medicine

|August 4, 2012

Summary

This study introduces a novel biospecimen pooling strategy to enhance the power of case-control studies for gene-environment interactions (GXE). This method significantly increases statistical power, especially for pilot studies investigating GXE.

More Related Videos

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Related Experiment Videos

Last Updated: May 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Area of Science:

Epidemiology
Genetic Epidemiology
Biostatistics

Background:

Case-control studies often lack statistical power to detect gene-environment interactions (GXE) due to insufficient sample sizes within specific strata.
Detecting GXE is crucial for understanding complex diseases influenced by genetic predisposition and environmental exposures.

Purpose of the Study:

To propose and evaluate a novel study design using strategic biospecimen pooling to increase the power of GXE testing.
To develop a methodology for estimating and testing GXE using allele frequencies derived from pooled biospecimens.

Main Methods:

The study focuses on a scenario with binary disease and environmental statuses and ordinal gene status (0, 1, or 2 minor alleles).
A new methodology is developed to estimate and test GXE using allele frequencies obtained from pooled biospecimens.
The impact of the measurement process on the GXE estimator is explored.

Main Results:

The proposed pooling strategy significantly increases statistical power compared to traditional individual genotyping.
Simulations demonstrate that 12 pooled measurements from 1000 individuals yield more power than genotyping 500 individuals individually.
An illustration using an epidemiologic study on fiber, paraoxonase, and anovulation shows the effectiveness of biospecimen pooling.

Conclusions:

Strategic biospecimen pooling is an effective method to enhance power in GXE testing, particularly for pilot studies.
This approach offers a cost-effective and powerful alternative for investigating gene-environment interactions.
Investigators should consider biospecimen pooling when designing studies to test for GXE.