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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...
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
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...

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Related Experiment Video

Updated: Jul 12, 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

Implementing a Multi-Ancestry Polygenic Risk Score for Coronary Heart Disease in a Diverse Cohort.

Marwan Hamed1, Mohammadreza Naderian1, Hana Bangash1

  • 1Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 11, 2026
PubMed
Summary

A study implemented a polygenic risk score for coronary heart disease (PRSCHD) in a diverse cohort. High genetic risk for CHD was prevalent, with analyses ongoing to assess outcomes after results return.

Keywords:
PRScoronary heart diseasefamilial hypercholesterolemiafamily historygenetic riskgenomicspolygenic riskpolygenic risk score

Related Experiment Videos

Last Updated: Jul 12, 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

Area of Science:

  • Genomics and Precision Medicine
  • Cardiovascular Disease Research
  • Public Health Genomics

Background:

  • The electronic MEdical Records and GEnomics (eMERGE) Network conducted a phase IV study to evaluate the implementation of a multi-ancestry polygenic risk score for coronary heart disease (PRSCHD).
  • Assessing the impact of returning genetic risk information is crucial for personalized cardiovascular disease prevention strategies.

Purpose of the Study:

  • To implement a multi-ancestry polygenic risk score for coronary heart disease (PRSCHD: PGS004696) within the eMERGE Network.
  • To evaluate the outcomes following the return of results (RoR) of PRSCHD, alongside family history (FamHxCHD), monogenic risk (familial hypercholesterolemia - FH), and clinical factors.
  • To compare the initiation or intensification of lipid-lowering therapy between different PRSCHD groups using a regression discontinuity design.

Main Methods:

  • A prospective cohort study enrolled 20,421 adults, collecting data on PRSCHD, FamHxCHD, FH, and clinical risk factors.
  • Results were returned through a Genome Informed Risk Assessment (GIRA) report, with high PRSCHD or FH participants receiving results from study personnel and FamHxCHD participants notified via mail/email.
  • The primary outcome was lipid-lowering therapy initiation/intensification within 12 months post-RoR, analyzed using a regression discontinuity design comparing PRSCHD ≥95th percentile to PRSCHD 90th-94th percentile groups.

Main Results:

  • The cohort (mean age 50±15 years, 68% female, 50% from health disparity groups, 40% non-White) showed a prevalence of 4.0% for coronary heart disease (CHD), 10.2% for FamHxCHD, 4.3% for high PRSCHD, and 0.7% for FH.
  • Approximately 14.3% of participants had at least one of the three genetic risk factors for CHD.
  • CHD risk estimates were notably highest among participants who self-reported as Black.

Conclusions:

  • A significant proportion of the diverse cohort (14.2%) exhibited increased genetic risk for CHD, with at least one of the three evaluated genetic risk factors present.
  • Ongoing analyses aim to assess the impact of PRSCHD implementation on clinical outcomes, considering FamHxCHD, FH, and clinical risk factors across different age groups.
  • This study highlights the prevalence of genetic risk for CHD in a multi-ancestry population and sets the stage for evaluating the clinical utility of polygenic risk scores.