The M235T polymorphism of the angiotensinogen gene in South Indian patients of hypertrophic cardiomyopathy

Rao, Polugari Prem Kumar Manohar; Munshi, Anjana; Mullapudi, Ratnam; Kumar, P. Sampath; Anugula, Sharath; Krishna, Gundala Anil; Sadhnani, Murlidhar

doi:10.1177/1470320310387955

Cited by 9 publications

(8 citation statements)

References 38 publications

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“…The frequency of 235T variant in the 1000 genome project was found to be 0.87 in Africans, 0.64 in Americans, and 0.84 in Asians but the frequency was deviated in Europeans with the frequency of 0.41 [58]. Several studies in south India has reported that the 235T frequencies are in the range of 0.56–0.81 in the patients [13, 59–61]. But in north India the frequency was reported to be 0.31 in the cases [44].…”

Section: Discussionmentioning

confidence: 99%

Gender Specific Association of RAS Gene Polymorphism with Essential Hypertension: A Case-Control Study

Singh

Jajodia

Kaur

et al. 2014

BioMed Research International

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Renin-angiotensin system (RAS) polymorphisms have been studied as candidate risk factors for hypertension with inconsistent results, possibly due to heterogeneity among various genetic and environmental factors. A case-control association study was conducted to investigate a possible involvement of polymorphisms of three RAS genes: AGT M235T (rs699), ACE I/D (rs4340) and G2350A (rs4343), and AGTR1 A1166C (rs5186) in essential hypertensive patients. A total of 211 cases and 211 controls were recruited for this study. Genotyping was performed using PCR-RFLP method. The genotype and allele distribution of the M235T variant differed significantly in hypertensives and normotensives (OR-CI = 2.62 (1.24–5.76), P = 0.006; OR-CI = 0.699 (0.518–0.943), P = 0.018), respectively. When the samples were segregated based on sex, the 235TT genotype and T allele were predominant in the female patients (OR-CI = 5.68 (1.60-25.10), P = 0.002; OR-CI = 0.522 (0.330–0.826), P = 0.005) as compare to the male patients (OR-CI = 1.54 (1.24–5.76), P = 0.34; OR-CI = 0.874 (0.330–0.826), P = 0.506), respectively. For ACE DD variant, we found overrepresentation of “I”-allele (homozygous II and heterozygous ID) in unaffected males which suggest its protective role in studied population (OR-CI = 0.401 (0.224–0.718); P = 0.0009). The M235T variant of the AGT is significantly associated with female hypertensives and ACE DD variant could be a risk allele for essential hypertension in south India.

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Section: Discussionmentioning

confidence: 99%

Gender Specific Association of RAS Gene Polymorphism with Essential Hypertension: A Case-Control Study

Singh

Jajodia

Kaur

et al. 2014

BioMed Research International

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“…A total of seventeen studies were included in our review [1], [13], [20], [21], [23], [25], [26], [35], [36], [37], [38], [39], [40], [41], [42], [43], [44]. For ACE I/D polymorphism, a total of 31 prospective trials surveyed the polymorphism of ACE I/D.…”

Section: Resultsmentioning

confidence: 99%

“…The variability of results in HCM may be partly accounted for by the heterogeneous patient populations in most studies since the effect of RAS polymorphisms might be relative small to the effect of the underlying primary aetiological mutation [19]. In addition, AGT M235T nucleotide transition is associated with sporadic hypertrophic cardiomyopathy (SHCM) rather than familial hypertrophic cardiomyopathy (FHCM) in which the mutations in sarcomeric genes have been found to be associated with the disease [37].…”

Section: Discussionmentioning

confidence: 99%

The Influence of Angiotensin Converting Enzyme and Angiotensinogen Gene Polymorphisms on Hypertrophic Cardiomyopathy

Luo

Wang

et al. 2013

PLoS ONE

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Some studies have reported that angiotensin converting enzyme (ACE) and angiotensinogen (AGT) genes have been associated with hypertrophic cardiomyopathy (HCM). However, there have been inconsonant results among different studies. To clarify the influence of ACE and AGT on HCM, a systemic review and meta-analysis of case-control studies were performed. The following databases were searched to indentify related studies: PubMed database, the Embase database, the Cochrane Central Register of Controlled Trials database, China National Knowledge Information database, and Chinese Scientific and Technological Journal database. Search terms included “hypertrophic cardiomyopathy”, “angiotensin converting enzyme” (ACE) or “ACE” and “polymorphism or mutation”. For the association of AGT M235T polymorphism and HCM, “angiotensin converting enzyme” or “ACE” was replaced with “angiotensinogen”. A total of seventeen studies were included in our review. For the association of ACE I/D polymorphism and HCM, eleven literatures were included in the meta-analysis on association of penetrance and genotype. Similarly, six case-control studies were included in the meta-analysis for AGT M235T. For ACE I/D polymorphism, the comparison of DI/II genotype vs DD genotype was performed in the present meta-analysis. The OR was 0.73 (95% CI: 0.527, 0.998, P = 0.049, power = 94%, alpha = 0.05) after the study which deviated from Hardy-Weinberg Equilibrium was excluded, indicating that the ACE I/D gene polymorphism might be associated with HCM. The AGT M235T polymorphism did not significantly affect the risk of HCM. In addition, ACE I/D gene polymorphism did not significantly influence the interventricular septal thickness in HCM patients. In conclusion, the ACE I/D polymorphism might be associated with the risk of HCM.

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“…HCM has a Genetic Polymorphisms that Playing Role in Development of Hypertrophic Cardiomyopathy DOI: http://dx.doi.org /10.5772/intechopen.83473 wide familial variability ranging from severe symptomatic individuals to asymptomatic individuals [4]. Cardiac phenotype and variability in clinical course not only depend on pathogenic genes but also depend on environmental factors [3]. Important information can be obtained in terms of prognosis and treatment of the disease through the identification of these environmental and genetic factors [4].…”

Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

“…In HCM patients, due to defects in sarcomeric proteins, mutations such as MYBP-C, α-tropomyosin, cTnT, ventricular myosin essential and regulatory light chains, cardiac troponin I, and cardiac α-actin and titin have been described. This disease, known to be caused by the defects in sarcomeric proteins, is called sarcomere disease [3]. In addition to mutations in sarcomeric and non-sarcomeric genes, many other gene mutations also lead to metabolic disorders with similar phenotypes in HCM [4].…”

Section: Introductionmentioning

confidence: 99%

Genetic Polymorphisms that Playing Role in Development of Hypertrophic Cardiomyopathy

Alkanlı¹,

Ay²

2020

Practical Applications of Electrocardiogram

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Hypertrophic cardiomyopathy (HCM) is a complex heart disease with various physiopathological, morphological, functional, and clinical features. In this disease, HCM is known to be an autosomal genetic disease in more than half of the cases. Mutations in sarcomeric genes are thought to play an important role in the pathogenesis of the disease. Modifying genes and environmental factors also together affect the phenotypic expression and severity of HCM. The phenotypic expression of HCM is determined by causal sarcomeric gene mutations and the regulatory genetic basis of genes. HCM, a multi-factorial disease, involves the effects of many environmental gene modifiers and the sarcomeric/cytoskeletal genes. The single nucleotide polymorphisms occurring in the human genome differ in terms of susceptibility to disease in various populations. Therefore, the determination of genetic polymorphisms involved in the development of HCM disease is very important for the diagnosis of the disease.

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The M235T polymorphism of the angiotensinogen gene in South Indian patients of hypertrophic cardiomyopathy

Abstract: Our results suggest that the T allele of the AGT gene is significantly associated with SHCM in a South Indian population from Andhra Pradesh. However, we did not find significant association of this polymorphism with FHCM.

Cited by 9 publications

References 38 publications

Gender Specific Association of RAS Gene Polymorphism with Essential Hypertension: A Case-Control Study

Gender Specific Association of RAS Gene Polymorphism with Essential Hypertension: A Case-Control Study

The Influence of Angiotensin Converting Enzyme and Angiotensinogen Gene Polymorphisms on Hypertrophic Cardiomyopathy

Genetic Polymorphisms that Playing Role in Development of Hypertrophic Cardiomyopathy

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