Related Experiment Video

Updated: Mar 21, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

12.3K

NPR-C gene polymorphism is associated with increased susceptibility to coronary artery disease in Chinese Han

Qin Hu1, Qiji Liu2, Shasha Wang1

  • 1Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education and Chinese Ministry of Health, Department of Cardiology, Shandong University Qilu Hospital, Jinan, Shandong, China.

Oncotarget
|May 19, 2016
PubMed

Insights

This study identified novel genetic loci associated with coronary artery disease (CAD) susceptibility in the Chinese Han population. Single nucleotide polymorphisms (SNPs) in the natriuretic peptide receptor C (NPR-C) gene significantly contribute to CAD risk.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Population Genomics

Background:

  • Coronary artery disease (CAD) is a leading cause of mortality globally.
  • Identifying genetic factors influencing CAD susceptibility is crucial for understanding disease mechanisms and developing targeted therapies.
  • Previous genetic studies in the Chinese Han population have not fully elucidated the genetic architecture of CAD.

Purpose of the Study:

  • To identify novel genetic loci associated with coronary artery disease (CAD) susceptibility in the Chinese Han population.
  • To investigate the role of natriuretic peptide receptor C (NPR-C) gene single nucleotide polymorphisms (SNPs) in CAD.
  • To validate and replicate genetic associations across diverse Chinese Han populations.

Main Methods:

  • Genome-wide association study (GWAS) in an "extreme individuals" cohort.
  • Pathway-based candidate gene study.
  • Validation and replication studies using large cohorts across multiple Chinese populations.
  • Genotyping of selected SNPs, including rs700926 in the NPR-C gene.

Main Results:

  • A novel locus, rs700926 in the natriuretic peptide receptor C (NPR-C) gene, was identified as significantly associated with CAD.
  • Six SNPs, including rs700926, demonstrated consistent association with CAD across multiple geographically distinct populations.
  • Further analysis identified additional loci (rs12697273 and rs10066436) associated with CAD in a central China cohort.
  • These associations remained significant after adjusting for traditional CAD risk factors.

Conclusions:

  • Single nucleotide polymorphisms (SNPs) in the NPR-C gene significantly contribute to CAD susceptibility in the Chinese Han population.
  • The findings highlight NPR-C as a potential novel therapeutic target for CAD.
  • This study provides valuable genetic insights into CAD pathogenesis within the Chinese Han population.

Keywords:
Pathology Sectioncoronary artery diseasegenome-wide association studiesnatriuretic peptide receptor Csingle nucleotide polymorphismssusceptibility gene

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

10.5K
Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

13.8K

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,...
19.7K
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...
102
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
86
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
65
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...
75
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