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

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...

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...

Multipotency and Niche of Bulge Stem Cell

Multipotency and Niche of Bulge Stem Cell

A hair follicle or HF is a small part of the skin that produces the hair shaft. Paul Gerson Unna was the first to observe a bulge in the human hair follicle's outer root sheath (ORS). The bulge is present between the sebaceous gland and the arrector pili muscle and is the niche for hair follicle stem cells (HFSCs). The bulge is also a niche for melanocyte stem cells, and their loss results in graying of hair. The HFSCs express Sox9 and Lhx2, which help them maintain stemness and prevent...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

Pedigree Analysis

Pedigree Analysis

You might also read

Related Articles

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

Sort by

Same author

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same author

Publisher Correction: Genome-wide association study of coronary flow reserve assessed by cardiac perfusion PET suggests a role for NF-κB pathway.

Nature cardiovascular research·2026

Same author

Genetic Susceptibility to Incisional Hernia Evaluation of Hernia Polygenic Risk Scores.

medRxiv : the preprint server for health sciences·2026

Same author

Using natural language processing to extract carotid stenosis severity from clinical notes to create a nationwide veteran cohort.

JVS-vascular insights·2026

Same author

Association of a polygenic risk score with coronary atherosclerotic burden in clinical CT angiograms.

medRxiv : the preprint server for health sciences·2026

Same author

A Common <i>CD36</i> Variant and the Genetic Landscape of Dilated Cardiomyopathy in Individuals of African Ancestry.

medRxiv : the preprint server for health sciences·2026

Search research articles

Related Experiment Video

Updated: Jun 23, 2025

Rapid Genetic Analysis of Epithelial-Mesenchymal Signaling During Hair Regeneration

Rapid Genetic Analysis of Epithelial-Mesenchymal Signaling During Hair Regeneration

Published on: February 28, 2013

Genome-Wide Association Study Identifies Genes for Hair Growth and Patterning are Associated With Pilonidal Disease.

Jeffrey L Roberson¹, Cyrus Farzaneh^1,2, Christopher J Neylan¹

¹Department of Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

Diseases of the Colon and Rectum

|June 20, 2024

Summary

This study identified genetic factors linking pilonidal sinus disease to hair growth and androgen traits. These findings offer biological insights into the disease

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

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Experiment Videos

Last Updated: Jun 23, 2025

Rapid Genetic Analysis of Epithelial-Mesenchymal Signaling During Hair Regeneration

Rapid Genetic Analysis of Epithelial-Mesenchymal Signaling During Hair Regeneration

Published on: February 28, 2013

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

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

Genetics
Dermatology
Human Biology

Background:

Pilonidal sinus disease is a common, chronic condition affecting the sacrococcygeal region.
Its strong association with family history suggests a genetic component, yet genetic risk factors remain uninvestigated.

Purpose of the Study:

To identify genetic risk factors for pilonidal sinus disease (PSD).

Main Methods:

A genome-wide association study (GWAS) was conducted using data from the UK Biobank, FinnGen Biobank, and Penn Medicine BioBank.
Genome-wide significant variants were mapped to genes, and genetic correlation with hair phenotypes was assessed.
A genome-first approach analyzed rare variants in hair shaft genes (TCHH, PADI3, TGM3).

Main Results:

The GWAS identified 5 genome-wide significant loci associated with PSD, implicating genes involved in hair patterning and balding.
Significant genetic correlation was found between PSD and androgen-driven hair traits, including male pattern baldness.
Rare coding variants in TCHH were associated with an increased prevalence of PSD.

Conclusions:

Genetic analysis reveals shared genetic architecture between pilonidal sinus disease and hair biology.
This study provides the first investigation into the genetic basis of PSD, offering biological insights into its connection with male sex and hair characteristics.