Related Experiment Video

Updated: May 4, 2026

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

12.7K

NEXN is a novel susceptibility gene for coronary artery disease in Han Chinese

Chong Wu1, Han Yan1, Jingzhi Sun2

  • 1Department of Human Population Genetics, Institute of Molecular Medicine, Peking University, Beijing, China.

Plos One
|December 19, 2013
PubMed

Insights

Researchers identified NEXN as a novel gene linked to coronary artery disease (CAD) susceptibility. Genetic variations in NEXN influence vascular smooth muscle cell function, impacting CAD risk in the Han Chinese population.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Vascular Biology

Background:

  • Coronary artery disease (CAD) is a major global health concern, with genetic factors playing a significant role in its susceptibility.
  • Vascular smooth muscle cell (VSMC) dysfunction is central to the development of atherosclerotic lesions and intimal hyperplasia.
  • The role of the muscle-specific F-actin binding protein NEXN in human vascular disorders, particularly CAD, remains largely unexplored.

Purpose of the Study:

  • To investigate the potential association between genetic variations in the NEXN gene and susceptibility to coronary artery disease (CAD).
  • To elucidate the functional role of NEXN in vascular smooth muscle cells (VSMCs) and its contribution to atherosclerotic processes.
  • To identify specific genetic variants within the NEXN gene and its regulatory regions associated with CAD risk.

Main Methods:

  • Genotyping of 5 single nucleotide polymorphisms (SNPs) tagging 17 common SNPs in the NEXN gene region in 1883 CAD patients and 1973 controls from Han Chinese.
  • Statistical analysis to identify SNPs associated with CAD, including Bonferroni correction and calculation of odds ratios and statistical power.
  • In vitro functional assays to assess NEXN's effect on VSMC phenotype and in vivo studies using a mouse model of vascular injury.

Main Results:

  • One SNP, rs1780050, showed a strong association with CAD (Bonferroni corrected P = 7.65×10⁻⁵), with an odds ratio of 1.23 (1.12-1.36).
  • NEXN was found to promote a contractile VSMC phenotype in vitro and inhibit neointima formation after vascular injury in vivo.
  • Expression quantitative trait locus (eQTL) analysis revealed that the CAD-associated risk allele (T) of rs1780050 is linked to decreased NEXN expression.

Conclusions:

  • NEXN is identified as a novel susceptibility gene for coronary artery disease (CAD) based on combined genetic and functional evidence.
  • Reduced NEXN expression, potentially driven by genetic variants like rs1780050, contributes to increased CAD risk.
  • These findings highlight NEXN's critical role in maintaining vascular homeostasis and suggest its potential as a therapeutic target for CAD.

More Related Videos

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

12.5K
Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq

Published on: April 19, 2013

23.8K

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,...
14.6K
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.1K
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...
121
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...
12.6K
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
765
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...
159