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Related Concept Videos

Polygenic Traits01:18

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 Traits01:18

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...
Genome-wide Association Studies-GWAS01:11

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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Pleiotropy01:33

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,...

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Related Experiment Video

Updated: May 28, 2026

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
09:44

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model

Published on: March 5, 2022

Hirsutism Beyond PCOS: Genome-wide Evidence for Genetic Factors.

Jasmin H Takala1, Natàlia Pujol-Gualdo2,

  • 1Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland; Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.

The Journal of Investigative Dermatology
|May 26, 2026
PubMed
Summary
This summary is machine-generated.

This study identified seven genetic loci linked to hirsutism, including new ones. It highlights shared genetic factors between hirsutism, PCOS, and metabolic conditions, suggesting diverse underlying mechanisms.

Keywords:
GeneticsGenome-Wide Association Studies (GWAS)HirsutismPolycystic Ovary Syndrome (PCOS)

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Last Updated: May 28, 2026

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Area of Science:

  • Genetics
  • Endocrinology
  • Dermatology

Background:

  • Hirsutism, excessive hair growth in women, affects 5-10% and has varied causes, often linked to Polycystic Ovary Syndrome (PCOS).
  • Understanding the genetic basis of hirsutism is crucial for identifying diverse contributing factors beyond PCOS.

Purpose of the Study:

  • To explore the genetic architecture of hirsutism through a large-scale genome-wide association study (GWAS).
  • To identify novel genetic loci associated with hirsutism and investigate shared genetic influences with related conditions.

Main Methods:

  • Conducted a cross-ancestry GWAS involving 4,834 hirsutism cases and 352,966 controls.
  • Analyzed the Finnish FinnGen cohort to identify low-frequency variants, including a specific variant near FGF5.
  • Performed genetic correlation analyses with PCOS and metabolic traits.

Main Results:

  • Identified seven genetic loci associated with hirsutism, with four being novel discoveries.
  • A rare variant near FGF5 (rs199649605) showed a significant association with hirsutism in the Finnish population.
  • Found shared genetic architecture between hirsutism, PCOS, obesity, and type 2 diabetes.

Conclusions:

  • Uncovered genetic contributors to hirsutism beyond PCOS, indicating both androgen-dependent and independent pathways.
  • These findings advance the understanding of hirsutism etiology and its relationship with metabolic health.