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Published on: August 8, 2022
[Association of angiotensinogen gene M235T variant with hypertrophic cardiomyopathy]
Si-yu Cai1, Yu-ping Shi, Feng Yu
1Department of Cardiology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009 PR China. hzcaisy6@mail.hz.zj.cn
Objective:
To evaluate the influence of the angiotensinogen(AGT) gene M235T variant on the prevalence and severity of hypertrophic cardiomyopathy(HCM).
Methods:
The authors conducted a case-control study on 152 subjects, including 72 HCM patients and 80 normal controls. Polymerase chain reaction(PCR) combined with restriction fragment length polymorphism(RFLP) was used to detect the M235T variant of AGT gene. Interventricular septum thickness, left ventricular posterior wall thickness and apical wall thickness were measured by means of M-mode echocardiography under two-dimensional guidance in the parasternal long-axis plane and apical two- and four-chamber views.
Results:
(1) The genotype distributions of AGT gene in both groups were in agreement with Hardy-Weinberg equilibrium. (2) The genotype distributions of the M235T variant differed significantly in HCM patients and controls(chi-square=6.090 P<0.05). The frequencies of TT genotype and T235 allele in HCM patients were higher than did the patients in controls(TT genotype 0.63 vs 0.45 OR=2.037 95%CI 1.064-7.899 P<0.05 T235 allele 0.78 vs 0.64 OR=1.990 95%CI 1.197-3.308 P<0.01). (3)The patients with the TT genotype had significantly greater mean left ventricular maximal wall thickness than did the patients with the MM and MT genotypes [(19.1+/-4.8) mm vs(15.3+/-2.6)mm and(16.2+/-5.1)mm F=4.261 P<0.05].
Conclusion:
The variant M235T of the AGT gene is significantly associated with HCM in this population. The genotype TT or allele T might be a genetic risk factor for the development and extent of hypertrophy in HCM patients.
Insights
The angiotensinogen (AGT) gene M235T variant is linked to hypertrophic cardiomyopathy (HCM). Individuals with the TT genotype or T allele show increased risk and severity of HCM.
Area of Science:
- Genetics and Cardiovascular Disease
- Molecular Biology
- Population Genetics
Context:
- Hypertrophic cardiomyopathy (HCM) is a complex cardiac condition with a significant genetic component.
- The angiotensinogen (AGT) gene plays a crucial role in the renin-angiotensin system, influencing blood pressure and cardiovascular remodeling.
- Understanding genetic predispositions like the AGT M235T variant is vital for predicting HCM risk and progression.
Purpose:
- To investigate the association between the angiotensinogen (AGT) gene M235T polymorphism and the prevalence and severity of hypertrophic cardiomyopathy (HCM).
- To determine if specific genotypes or alleles of the AGT M235T variant are risk factors for HCM development and cardiac hypertrophy.
Summary:
- A case-control study involving 72 HCM patients and 80 healthy controls analyzed the AGT gene M235T variant using PCR-RFLP.
- Genotype distributions differed significantly between HCM patients and controls, with higher frequencies of the TT genotype and T235 allele in patients.
- Patients with the TT genotype exhibited significantly greater left ventricular maximal wall thickness compared to those with MM or MT genotypes.
Impact:
- The AGT gene M235T variant is significantly associated with HCM in the studied population.
- The TT genotype or T allele may serve as a genetic risk factor for the development and extent of cardiac hypertrophy in HCM.
- These findings contribute to the genetic understanding of HCM and may inform future risk stratification strategies.
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