Related Experiment Video

Updated: Mar 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.0K

Variants in 9p21 Predicts Severity of Coronary Artery Disease in a Chinese Han Population

Jinjin Jing1, Li Su1, Ying Zeng2

  • 1Department of Cardiology, the Second Affiliated Hospital of Chongqing Medical University, the Chongqing Cardiac Arrhythmias Service Center, Chongqing, China.

Annals of Human Genetics
|July 28, 2016
PubMed

Insights

Genetic variants in the 9p21 locus, specifically rs2383207 and rs2383206, predict coronary artery disease (CAD) severity in the Chinese Han population. This finding highlights the potential of 9p21 gene dosage for predicting CAD progression.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Population Studies

Background:

  • Genome-wide association studies (GWAS) have linked 9p21 genetic variants to coronary artery disease (CAD).
  • The predictive value of these 9p21 variants for CAD severity in the Chinese Han population remains undetermined.

Purpose of the Study:

  • To investigate the association between 9p21 genetic variants (rs2383207 and rs2383206) and the severity of coronary artery disease (CAD).
  • To determine if 9p21 gene dosage can predict CAD severity in Chinese Han individuals.

Main Methods:

  • Genotyping of single-nucleotide polymorphisms (SNPs) rs2383207 and rs2383206 in 499 CAD patients and 1519 controls from the Chinese Han population.
  • Stratification of 9p21 gene dosage based on coronary angiography (CAG) findings to assess the degree of vascular lesions.
  • Statistical analysis to test the association between gene dosage and CAD severity, including Gensini score.

Main Results:

  • Both rs2383207 and rs2383206 showed significant associations with multi-vessel coronary artery disease (2-vessel and 3-vessel disease).
  • Specific genotypes (GG) of rs2383206 and rs2383207 were linked to increased prevalence of left main trunk (LM) and left anterior descending artery (LAD)/right coronary artery (RCA) disease, respectively.
  • The risk allele G of rs2383207 was significantly associated with higher Gensini scores, indicating more severe CAD.

Conclusions:

  • The 9p21 locus, particularly rs2383207, plays a significant role in the development and severity of coronary artery disease (CAD) in the Chinese Han population.
  • 9p21 gene dosage serves as a potential predictor for the severity of coronary artery disease (CAD).

Keywords:
Gensini scoreSeverity of coronary artery diseasegene dosagesingle nucleotide polymorphism

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.4K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Related Concept Videos

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,...
19.5K
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...
16.5K
Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT01:25

Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT

Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
714
Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
1.5K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.1K
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...
94