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

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Polygenic Traits

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

Polygenic Traits

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Epistasis

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

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...

You might also read

Related Articles

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

Sort by

Same author

MTHFR allele and one-carbon metabolic profile predict severity of COVID-19.

Proceedings of the National Academy of Sciences of the United States of America·2025

Same author

Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis.

Neurology(R) neuroimmunology & neuroinflammation·2025

Same author

MICBG406A polymorphism reduces risk of mechanical ventilation and death during viral acute lung injury.

JCI insight·2025

Same author

PTSD and epigenetic aging: a longitudinal meta-analysis.

Psychological medicine·2025

Same author

Uncovering Genetic Risk Beyond Diagnoses in Suicidal Thoughts and Behaviors: Insights from <i>All of Us</i>.

medRxiv : the preprint server for health sciences·2025

Same author

Cell-type-specific and inflammatory DNA methylation patterns associated with PTSD.

Brain, behavior, and immunity·2025

Search research articles

Related Experiment Video

Updated: May 10, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Pleiotropy in complex traits: challenges and strategies.

Nadia Solovieff¹, Chris Cotsapas, Phil H Lee

¹Center for Human Genetics Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, Massachusetts 02114, USA.

Nature Reviews. Genetics

|June 12, 2013

Summary

Genetic variants can influence multiple traits, a phenomenon called pleiotropy. This review explores methods for detecting pleiotropic effects across complex human traits and their implications.

More Related Videos

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

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: May 10, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

Genetics
Genomics
Human Complex Traits

Background:

Genome-wide association studies reveal numerous variants affecting multiple traits, including autoimmune diseases, cancers, and neuropsychiatric disorders.
Pleiotropic effects on human complex traits appear widespread, but systematic detection remains challenging.

Purpose of the Study:

To review evidence for pleiotropy in genetic mapping studies.
To discuss analytical approaches for identifying pleiotropic effects.
To explore implications and future research directions for pleiotropy.

Main Methods:

Review of contemporary genetic mapping studies.
Discussion of analytical approaches for cross-phenotype analysis.
Examination of spurious effect sources and study design.

Main Results:

Evidence suggests widespread pleiotropic effects across various human complex traits.
Challenges exist in systematic detection and interpretation of cross-phenotype genetic results.
Understanding pleiotropy requires robust analytical frameworks and careful study design.

Conclusions:

Pleiotropy is a significant factor in human complex traits, impacting multiple diseases.
New methodologies are needed for accurate identification and interpretation of pleiotropic genetic effects.
Further research into the molecular and clinical implications of pleiotropy is warranted.