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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...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
The Ratio of X Chromosome to Autosomes02:45

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...

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Related Experiment Video

Updated: May 8, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

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

Published on: June 21, 2018

Widespread and Biologically Driven Sex Disparities in Polygenic Risk Prediction Across Complex Traits.

Akl Fahed1, Xingyu Chen2, Tingfeng Xu3

  • 1Massachusetts General Hospital.

Research Square
|May 7, 2026
PubMed
Summary
This summary is machine-generated.

Polygenic risk scores (PRS) show varied performance across sexes for disease prediction. These sex differences in PRS performance are common and linked to genetic architecture, not methods, impacting equitable use.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Last Updated: May 8, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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09:37

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

Published on: August 15, 2019

Area of Science:

  • Genetics
  • Bioinformatics
  • Precision Medicine

Background:

  • Polygenic risk scores (PRS) are emerging tools for predicting disease risk.
  • Assessing the equity of PRS performance across biological sexes is crucial for clinical application.
  • Previous studies have not comprehensively evaluated sex-specific performance disparities in PRS.

Purpose of the Study:

  • To investigate sex differences in the predictive performance of Polygenic Risk Scores (PRS).
  • To determine the extent and nature of sex-based performance variations across numerous traits.
  • To identify factors contributing to observed sex disparities in PRS utility.

Main Methods:

  • Utilized 3,263 PRS from the PGS Catalog for 145 traits.
  • Analyzed data from 409,440 UK Biobank participants.
  • Evaluated sex-stratified performance and correlated disparities with genetic architecture and GWAS sex imbalance.

Main Results:

  • Sex-differential PRS prediction was observed in 23% of diseases and 53% of quantitative traits.
  • Female-favoring performance was noted in autoimmune/endocrine traits; male-favoring in cardiometabolic traits.
  • Sex differences in predictive performance strongly correlated with sex-stratified SNP-based heritability.

Conclusions:

  • Sex disparities in PRS performance are prevalent and stem from underlying genetic architecture.
  • The findings underscore the need for sex-aware genome-wide association studies (GWAS) and PRS development.
  • Ensuring equitable clinical implementation of PRS requires addressing sex-specific genetic influences.