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Renin–angiotensin system gene polymorphisms as potential modifiers of hypertrophic and dilated cardiomyopathy phenotypes

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Abstract

The renin–angiotensin (RAS) pathway has an important role in the etiology of heart failure and given the importance of RAS as a therapeutic target in various cardiomyopathies, genetic polymorphisms in the RAS genes may modulate the risk and severity of disease in cardiomyopathy patients. In the present study, we examined the association of RAS pathway gene polymorphisms, angiotensin converting enzyme (ACE), angiotensinogen (AGT), and angiotensin receptor type 1 (AGTR1) with risk and disease severity in Asian Indian idiopathic cardiomyopathy patients. The case–control study was conducted in 400 cardiomyopathy patients diagnosed with HCM, DCM, or restrictive cardiomyopathy (RCM) and 235 healthy controls. Genotyping of patients and controls was done by PCR–RFLP assays. Left ventricular wall thickness and left ventricular ejection fraction were measured by means of M-mode echocardiography. We observed significantly higher prevalence of ACE DD and AGTR1 1166CC genotypes in hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) patients. Also, 235TT genotype of AGT (M235T) was significantly associated with enhanced risk of the disease phenotype in HCM, DCM, and RCM.

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Acknowledgements

Bindu Rani received Junior Research Fellowship and Senior Research Fellowship from the Indian Council of Medical Research (ICMR), New Delhi, India.

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The authors take responsibility for all aspects of the reliability and freedom from any bias of the data presented and their discussed interpretation.

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Authors and Affiliations

  1. Department of Experimental Medicine and Biotechnology, PGIMER, Lab No 2009, Research Block B, Chandigarh, 160012, India

    Bindu Rani, Amit Kumar, Rishikesh Prasad & Madhu Khullar

  2. Department of Cardiology, PGIMER, Chandigarh, India

    Ajay Bahl

  3. Department of Otolaryngology, PGIMER, Chandigarh, India

    Rajni Sharma

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  1. Bindu Rani
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  2. Amit Kumar
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  3. Ajay Bahl
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  6. Madhu Khullar
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Correspondence to Madhu Khullar.

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Rani, B., Kumar, A., Bahl, A. et al. Renin–angiotensin system gene polymorphisms as potential modifiers of hypertrophic and dilated cardiomyopathy phenotypes. Mol Cell Biochem 427, 1–11 (2017). https://doi.org/10.1007/s11010-016-2891-y

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  • DOI: https://doi.org/10.1007/s11010-016-2891-y

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