Related Experiment Video

Updated: Mar 3, 2026

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
09:52

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

Published on: April 19, 2013

24.9K

Variant in GALNT3 Gene Linked with Reduced Coronary Artery Disease Risk in Chinese Population

Liwei Guo1, Duan Li2, Mengting Li3

  • 11 Department of Forensic Medicine, Xinxiang Medical University , Xinxiang, China .

DNA and Cell Biology
|April 29, 2017
PubMed

Insights

This study links the GALNT3 gene to coronary artery disease (CAD) susceptibility. Genetic variants in GALNT3, particularly rs4621175, are associated with reduced CAD risk and lower GALNT3 expression, offering new therapeutic targets.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Disease Pathogenesis

Background:

  • Previous research indicated reduced GALNT3 gene expression in coronary artery disease (CAD) patients, contributing to endothelial injury via apoptosis and matrix metalloproteinase (MMP) regulation.
  • The GALNT3 gene presents a potential therapeutic target for CAD, but its direct link to CAD susceptibility remained uninvestigated.

Purpose of the Study:

  • To investigate the association between genetic variants of the GALNT3 gene and susceptibility to coronary artery disease (CAD).
  • To explore the functional impact of identified variants on GALNT3 expression and its relationship with CAD pathogenesis.

Main Methods:

  • Genotyping of thirteen single nucleotide polymorphisms (SNPs) in and around the GALNT3 gene in 1515 CAD patients and 5019 control individuals.
  • Logistic regression analysis to assess SNP associations with CAD, adjusting for age and sex.
  • Real-time PCR, Western blot, and luciferase reporter assays to evaluate GALNT3 expression and allele-specific transcriptional activity.

Main Results:

  • Two GALNT3 SNPs, rs13427924 and rs4621175, showed significant association with CAD risk (OR=0.87, P=1.01×10⁻³ and OR=0.75, P=2.51×10⁻⁴, respectively).
  • The risk-associated A allele of rs4621175 correlated with decreased GALNT3 mRNA and protein expression, and reduced transcriptional activity.
  • GALNT3 expression levels were found to be negatively correlated with MMP-2 gene expression.

Conclusions:

  • The GALNT3 gene is identified as a novel contributor to CAD susceptibility.
  • The A allele of the disease-associated variant rs4621175 confers reduced CAD risk by decreasing GALNT3 expression.
  • These findings elucidate the genetic regulation of GALNT3 in CAD pathogenesis and confirm its role in the disease.

Keywords:
GALNT3 genecoronary artery diseasevariant

More Related Videos

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease04:22

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease

Published on: May 20, 2024

1.5K

Related Concept Videos

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...
53
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,...
19.0K
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...
16.1K
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...
56
Coronary Artery Disease IV: Preventive Measures01:26

Coronary Artery Disease IV: Preventive Measures

Effective preventive measures for coronary artery disease (CAD) focus on controlling modifiable risk factors, including cholesterol abnormalities and lifestyle changes.Cholesterol ManagementFirst, the Mediterranean diet and the American Heart Association advocate for maintaining low-density lipoprotein (LDL) cholesterol levels below 100 mg/dL, with a more stringent recommendation of below 70 mg/dL for individuals at high risk. LDL cholesterol, often termed "bad cholesterol," can lead to the...
776
Coronary Artery Disease III: Clinical Manifestations01:30

Coronary Artery Disease III: Clinical Manifestations

Coronary Artery Disease (CAD) is a primary health risk worldwide, leading to significant morbidity and mortality. The condition arises from the buildup of atherosclerotic plaques within the coronary arteries, resulting in diminished blood supply to the heart muscle.The clinical manifestations of CAD vary widely, from asymptomatic stages to severe, life-threatening conditions. Understanding these manifestations is crucial for early diagnosis and effective management.Angina Pectoris: The Warning...
485