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Related Concept Videos

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...
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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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: May 20, 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

Improving Genetic Risk Prediction of CAD in Chinese by Multi-ancestry and Multi-trait GWAS Integration.

Huihui Wang1,2, Jinran Lin3, Xingjie Hao1,2

  • 1Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.

Genomics, Proteomics & Bioinformatics
|May 19, 2026
PubMed
Summary

A new polygenic risk score for coronary artery disease (CAD), PRSCAD+, improves risk prediction in the Chinese population. It integrates multi-ancestry, multi-trait genetic data for better stratification of CAD risk.

Keywords:
Coronary artery diseaseMulti-ancestryMulti-traitPolygenic risk scoreRisk stratification

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Published on: January 9, 2020

Area of Science:

  • Genetics
  • Cardiovascular Disease Epidemiology
  • Biostatistics

Background:

  • Polygenic risk scores (PRSs) for coronary artery disease (CAD) show suboptimal performance in Chinese populations due to genetic heterogeneity.
  • Existing PRSs are primarily developed and validated in European cohorts, limiting their clinical utility in diverse ancestries.

Purpose of the Study:

  • To develop and validate a novel multi-ancestry, multi-trait PRS for CAD (PRSCAD+) optimized for the Chinese population.
  • To assess the performance of PRSCAD+ in improving CAD risk prediction and stratification compared to existing PRSs and clinical risk factors.

Main Methods:

  • Trained PRSCAD+ using large-scale genome-wide association studies (GWASs) data from East Asian and European ancestries, integrating CAD and 15 related traits.
  • Optimized PRSCAD+ in a prospective Chinese cohort and validated its performance using hazard ratios (HR), concordance index (C-index), and area under the receiver operating characteristic curve (AUC).

Main Results:

  • PRSCAD+ demonstrated a stronger association with incident CAD (HR=1.26 per SD) than previously published PRSs.
  • PRSCAD+ significantly improved the C-index by an average of 1.1% over 14 existing PRSs and by 1.3% when added to clinical risk factors.
  • In an external validation set, PRSCAD+ achieved an odds ratio of 2.40 and an AUC of 0.799 for predicting early-onset CAD, showing significant risk gradients across quintiles.

Conclusions:

  • PRSCAD+ represents a significant advancement in CAD risk prediction for the Chinese population.
  • The multi-ancestry, multi-trait approach effectively leverages genetic information from diverse populations and related traits.
  • PRSCAD+ offers improved risk stratification, enabling more precise clinical management of CAD in Chinese individuals.