Cordoba Hospital, Semiology Department UHMI 3, Chagas and Hypertension Office, Córdoba, Argentina.
School of Medicine, Biochemistry and Molecular Biology Department, UNC, Cordoba, Argentina.
Rev Soc Bras Med Trop. 2020 Nov 6;53:e20190566. doi: 10.1590/0037-8682-0566-2019. eCollection 2020.
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.
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.
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).
Our results provided evidence that the R1b haplogroup may have a potential protective cardiovascular effect for its carriers.
在患有恰加斯病的患者中，男性比女性更有可能出现更严重的病理症状。我们旨在探讨 Y 染色体在男性恰加斯病患者中的作用，并评估其祖先与疾病状态之间的关系。
在这项比较研究中，我们分析了 150 名无相关非恰加斯病（nCD）男性和 150 名无相关恰加斯病（CD）男性。我们评估了恰加斯病的血清学诊断、生化参数、胸部 X 光、心电图和经胸超声心动图，并通过分析一组来自 Y 染色体的 17 个微卫星来确定单倍群。我们通过逻辑回归检查了常见的 Y 染色体单倍群与风险的临床参数之间的关联。
对于所有患者，最常见的单倍群是 R1b（43%）、G2a（9%）和 E1b1b（9%）。R1b 和 G2a 单倍群分别在 nCD 和 CD 男性中更为常见。正如预期的那样，我们观察到 CD 组中有很大比例的症状性患者，而与单倍群无关。来自两组的被归类为具有 R1b 单倍群的男性表现出较少的疾病临床证据。多变量分析表明，没有 R1b 的 CD 患者患有心-胸指数>0.5%的可能性大约是五倍（OR[比值比]=5.1，95%CI[置信区间]为 3.31-8.17）。没有 R1b 单倍群的男性出现 EcoCG 改变的可能性增加了 2.5 倍（OR=2.50，95%CI=0.16-3.94）。
我们的结果提供了证据表明，R1b 单倍群可能对其携带者具有潜在的保护心血管作用。
