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Updated: Mar 21, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Meta-analysis of TAFI polymorphisms and risk of cardiovascular and cerebrovascular diseases
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.
Abstract:
Cardiovascular and cerebrovascular diseases (CCVDs) are common and have high rates of morbidity, mortality, and recurrence. Thrombin-activatable fibrinolysis inhibitor (TAFI) is also known as carboxypeptidase B2 and is encoded by the CPB2 gene; CPB2 polymorphisms have been explored in a variety of studies, but their correlation to the risk of CCVDs remains ambiguous. We examined the hypothesized associations between CPB2 mutations and CCVDs in a general population. We searched, Embase, the Cumulative Index to Nursing and Allied Health Literature, the Science Citation Index, and several Chinese databases without applying any language restrictions. Nine case-control studies were analyzed in the current meta-analysis, and odds ratios (ORs) with their 95% confidence intervals were calculated. The pooled ORs indicated that the CPB2 rs3742264 G>A polymorphism was associated with an increased risk of CCVDs in the allele model (all P values < 0.05). A similar result for the CPB2 rs1926447 C>T polymorphism and CCVDs risk was detected in the allele model (P < 0.05). Ethnicity subgroup analysis implied that the rs3742264 G>A polymorphism was more likely to lead to the development of cerebrovascular disease in Asians (all P values < 0.05), whereas rs1926447 C>T was associated with cardiovascular disease among Africans (all P values < 0.05). These data suggest that the polymorphisms investigated, especially rs3742264 G>A and rs1926447 C>T, have a modest effect on susceptibility to CCVDs.
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