Meta-analysis of TAFI polymorphisms and risk of cardiovascular and cerebrovascular diseases

S W Wang1, H H Zhang1, C Y Dong2

  • 1Emergency Department, Yantai Yuhuangding Hospital, Yantai, China.

Insights

Genetic variations in the CPB2 gene, specifically rs3742264 G>A and rs1926447 C>T, are linked to an increased risk of cardiovascular and cerebrovascular diseases (CCVDs). These polymorphisms may influence disease susceptibility, particularly in specific ethnic groups.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Epidemiology

Background:

  • Cardiovascular and cerebrovascular diseases (CCVDs) represent a significant global health burden due to high morbidity, mortality, and recurrence rates.
  • The precise genetic factors influencing CCVD risk are not fully elucidated, necessitating further investigation into candidate genes.
  • Thrombin-activatable fibrinolysis inhibitor (TAFI), encoded by the CPB2 gene, has been implicated in hemostasis, but its role in CCVD development requires clarification.

Purpose of the Study:

  • To investigate the association between specific polymorphisms in the CPB2 gene and the risk of developing CCVDs in a general population.
  • To systematically evaluate existing evidence through a meta-analysis of case-control studies.
  • To explore potential ethnic differences in the impact of CPB2 polymorphisms on CCVD susceptibility.

Main Methods:

  • A comprehensive literature search was conducted across major databases (Embase, CINAHL, Science Citation Index, Chinese databases) without language restrictions.
  • Nine relevant case-control studies were included in the meta-analysis.
  • Pooled odds ratios (ORs) with 95% confidence intervals were calculated to assess the risk associated with CPB2 polymorphisms.

Main Results:

  • The CPB2 rs3742264 G>A polymorphism was significantly associated with an increased risk of CCVDs (allele model, P < 0.05).
  • Similarly, the CPB2 rs1926447 C>T polymorphism showed a significant association with CCVD risk (allele model, P < 0.05).
  • Subgroup analyses indicated that rs3742264 G>A was more strongly linked to cerebrovascular disease in Asians, while rs1926447 C>T was associated with cardiovascular disease in Africans.

Conclusions:

  • The investigated CPB2 polymorphisms, particularly rs3742264 G>A and rs1926447 C>T, exert a modest but significant influence on susceptibility to CCVDs.
  • These genetic variations may contribute to the development of CCVDs, with potential ethnic-specific effects.
  • Further research is warranted to fully understand the mechanisms underlying the contribution of CPB2 polymorphisms to CCVD pathogenesis.

Related Concept Videos

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...
106
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
Therapeutic Drug Monitoring: Affecting Factors01:29

Therapeutic Drug Monitoring: Affecting Factors

Therapeutic Drug Monitoring (TDM) is the clinical practice of measuring specific drug levels in a patient's blood or body tissues to manage and optimize therapy. TDM is crucial for drugs with narrow therapeutic windows, like warfarin and phenytoin, where incorrect doses can lead to treatment failure or severe side effects. This monitoring ensures the dosage administered is within a safe and effective range. The factors affecting therapeutic drug monitoring include:Patient-Specific Factors:a.
322
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...
762