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Aims: Endothelin-1 (ET-1) is a potent vasoconstrictive peptide, and its activity is mediated by the type A receptor (EDNR A). This action may play a significant role in the etiology of hypertension. There are different works that shows an association between certain polymorphisms of endothelin axis and clinical phenotype of hypertension. We describe the genetic variability +138/ex1 Short Research Article

Introduction: Among patients with Chagas disease, men have a higher risk of worse pathological symptoms than women. We aimed to explore the role of the Y chromosome in men diagnosed with Chagas disease and assess the relationship between their ancestry and disease status. Methods: In this comparative study, we analyzed 150 men with unrelated non-chagasic disease (nCD) and 150 men with unrelated chagasic disease (CD). We assessed the serological diagnosis of Chagas disease, biochemical parameters, thoracic X-rays, electrocardiogram, and transthoracic echocardiography and determined the haplogroup by analyzing a set of 17 microsatellites from the Y chromosome. We examined the associations between common Y chromosome haplogroups and the clinical parameters of risk by logistic regression. Results: For all patients, the most common haplogroups were R1b (43%), G2a (9%), and E1b1b (9%). The R1b and G2a haplogroup was more frequent in men with nCD and CD, respectively. As expected, we observed a high proportion of symptomatic patients in the CD group independent of the haplogroups. Men from both groups classified as having the R1b haplogroup showed less clinical evidence of disease. Multivariate analysis showed that CD patients without R1b were about five times more likely to have a cardio-thorax index >0.5% (OR [odds ratio] = 5.1, 95% CI [confidence interval] = 3.31-8.17). Men without the R1b haplogroup were 2.5 times more likely to show EcoCG alterations (OR = 2.50, 95% CI = 0.16-3.94). Conclusions: Our results provided evidence that the R1b haplogroup may have a potential protective cardiovascular effect for its carriers.

Background Infection with Trypanosoma cruzi triggers inflammatory mechanisms and induces the activity of manganese-dependent superoxide dismutase. Genetic single-nucleotide polymorphisms of this enzyme generate proteins with reduced enzymatic activity. The aims of this study were to determine the frequency of the polymorphisms Ala-9Val and Ile58Thr of the manganese-dependent superoxide dismutase gene in DNA from chagasic and nonchagasic patients and to establish a relationship between these polymorphisms with chronic chagasic cardiomyopathy. Methods Two hundred fifty-eight unrelated patients underwent a general clinical examination and an electrocardiogram, a chest radiograph, and a 12-lead color Doppler echocardiogram were taken. Besides, we evaluate liver and renal function, lipid profile, and diagnosis of Chagas disease and genetic polymorphisms by polymerase chain reaction–restriction fragment length polymorphism. The patients were classified as nonchagasic group with negative serology for Chagas disease and the chagasic group with positive serology. This group was subdivided into asymptomatic when patients did not present abnormal cardiac symptoms and symptomatic if the chest radiograph, electrocardiogram, and/or color Doppler echocardiogram showed some alteration. Results The female chagasic population shows a high frequency of the ile58ile genotype (P = 0.010; odds ratio, 3.3; 95% confidence interval, 1.35–8.38). Lower frequency of the ala-9ala genotype was detected in symptomatic Chagas patients (P = 0.001; odds ratio, 3.147; 95% confidence interval, 1.39–7.482). The analysis revealed an interaction between the ala/ala + val/val genotype (P = 0.0108) with the plasma concentration of low-density lipoprotein cholesterol in the symptomatic Chagas group. Conclusions Our results show that the presence of the val allele is associated with chronic chagasic cardiomyopathy. The prognostic value of these results should be more deeply investigated.

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