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Published on: April 1, 2019
Association between transforming growth factor-beta1 gene C-509T and T869C polymorphisms and rheumatic heart disease
Hsiang-Tai Chou1, Chien-Hsiun Chen, Chang-Hai Tsai
1Division of Cardiology, Department of Medicine, China Medical University Hospital, Taichung, Taiwan. chou.hsieh@msa.hinet.net
Insights
Genetic variations in the Transforming Growth Factor-beta1 (TGF-beta1) gene influence rheumatic heart disease (RHD) risk. Specific TGF-beta1 gene polymorphisms may offer protection against RHD in the Taiwan Chinese population.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Diseases
- Rheumatology
Background:
- Rheumatic heart disease (RHD) involves valve scarring and myocyte destruction due to rheumatic processes and turbulent blood flow.
- Transforming Growth Factor-beta1 (TGF-beta1) is implicated in RHD pathogenesis, potentially causing valvular fibrosis and calcification.
- The association between TGF-beta1 genetic variants and RHD risk has not been previously investigated.
Purpose of the Study:
- To investigate the relationship between TGF-beta1 gene C-509T and T869C polymorphisms and RHD.
- To determine if these TGF-beta1 gene polymorphisms influence RHD susceptibility in the Taiwan Chinese population.
Main Methods:
- A case-controlled study involving 115 RHD patients and 100 healthy controls.
- TGF-beta1 gene C-509T and T869C polymorphisms were analyzed using polymerase chain reaction-based restriction analysis.
- Echocardiography was used to document RHD in patients.
Main Results:
- Significant differences in genotype distribution for both TGF-beta1 C-509T (P <.0001) and T869C (P <.0001) polymorphisms were observed between RHD patients and controls.
- The TGF-beta1 C-509T CC genotype was less frequent in RHD patients, suggesting a protective effect.
- A higher frequency of the TGF-beta1 T869C T allele was found in RHD patients (Odds Ratio = 1.49), indicating increased risk.
Conclusions:
- The study supports a role for TGF-beta1 gene C-509T and T869C polymorphisms in modulating RHD risk and protection.
- Specific genotypes and alleles of TGF-beta1 are associated with RHD susceptibility in the studied population.
- These findings highlight the potential genetic underpinnings of RHD pathogenesis.
Background:
Scarring and collagen deposition in the valves and destruction of myocytes may result from the combined effects of a smoldering rheumatic process and a constant trauma to the mitral valve or aortic valve by the turbulent flow in rheumatic heart disease (RHD). Transforming growth factor-beta1 (TGF-beta1) may be responsible for the increased valvular fibrosis and calcification in the pathogenesis of RHD. However, the role of TGF-beta1 genetic variant in RHD has not been studied. This case-controlled study was carried out to investigate the possible relationship between the TGF-beta1 gene C-509T and T869C polymorphisms and RHD among the Chinese population in Taiwan.
Methods:
A group of 115 patients with RHD documented by using echocardiography and 100 age- and sex-matched healthy control patients were studied. TGF-beta1 gene C-509T and T869C polymorphisms were identified with polymerase chain reaction-based restriction analysis.
Results:
A significant difference was seen in the distribution of genotypes between patients with RHD and control patients for either TGF-beta1 C-509T polymorphism (P <.0001) or T869C polymorphism (P <.0001). The frequency of TGF-beta1 C-509T CC genotype was lower in the RHD group than in the control group (chi2 = 19.05, P <.0001), which suggests that this genotype may confer protective effects against RHD. A significant difference was seen in the distribution of allelic frequency between patients with RHD and control patients for TGF-beta1 T869C polymorphism (P =.04). The odds ratio (OR) for risk of RHD associated with TGF-beta1 T869C T allele was 1.49 (95% CI, 1.02-2.19). Further categorization of patients with RHD into mitral valve disease and combined valve disease subgroups revealed no statistical difference in these gene polymorphisms when compared with the 2 subgroups.
Conclusions:
Patients with RHD have a lower frequency of TGF-beta1 C-509T CC genotype and a higher frequency of T869C T allele, which supports a role for the TGF-beta1 gene C-509T and T869C polymorphisms in determining the risk/protection of RHD in Taiwan Chinese patients.
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