FOXP3 genetic variant and risk of acute coronary syndrome in Chinese Han population

Qing Yang1, Yu Chen, Wei Yong

  • 1Department of Cardiology, West China Hospital of Sichuan University, Chengdu, China.

Insights

Genetic variations in the Forkhead/winged helix transcription factor (FOXP3) gene may increase the risk of acute coronary syndrome (ACS). This study found a specific FOXP3 gene polymorphism associated with ACS in the Chinese Han population.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Human Genetics

Background:

  • Coronary artery disease (CAD) is a major global health concern, with acute coronary syndrome (ACS) representing its most severe manifestation.
  • Genetic factors are increasingly recognized for their role in the development of CAD and ACS.
  • Forkhead/winged helix transcription factor (FOXP3) gene polymorphisms have been linked to inflammatory conditions, suggesting a potential role in cardiovascular disease.

Purpose of the Study:

  • To investigate the association between FOXP3 gene polymorphisms and the susceptibility to ACS.
  • To examine the specific single nucleotide polymorphism (SNP) rs3761548 in the FOXP3 gene in relation to ACS risk.

Main Methods:

  • Genotyping of the FOXP3 gene SNP rs3761548 was performed using polymerase chain reaction-polyacrylamide gel electrophoresis.
  • The study included 226 patients diagnosed with ACS and 259 unrelated healthy individuals from the Chinese Han population.

Main Results:

  • A statistically significant association was observed between the FOXP3 gene single nucleotide polymorphism rs3761548 and ACS.
  • This finding suggests that the rs3761548 polymorphism may be a genetic risk factor for ACS in the studied population.

Conclusions:

  • The FOXP3 gene polymorphism rs3761548 is associated with an increased susceptibility to acute coronary syndrome in the Chinese Han population.
  • These results provide novel insights into the genetic underpinnings of ACS and highlight FOXP3 as a potential factor in its pathogenesis.

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,...
Acute Coronary Syndrome III: Diagnostic Studies01:30

Acute Coronary Syndrome III: Diagnostic Studies

Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
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...
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...
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...
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...