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Preliminary study between Y chromosome haplogroups and chagasic cardiomyopathy manifestations in patients with Chagas
Oscar Lassen1, Sandra Tabares2, Patricia Bertolotto3
1Cordoba Hospital, Semiology Department UHMI 3, Chagas and Hypertension Office, Córdoba, Argentina.
Insights
The Y chromosome's R1b haplogroup may offer cardiovascular protection in men with Chagas disease. This finding suggests a potential genetic factor influencing disease severity and outcomes in affected males.
Area of Science:
- Genetics
- Immunology
- Tropical Medicine
Background:
- Chagas disease disproportionately affects men, leading to more severe pathological symptoms.
- The role of the Y chromosome and its haplogroups in Chagas disease pathogenesis remains underexplored.
- Understanding genetic factors can help predict disease progression and identify potential therapeutic targets.
Purpose of the Study:
- To investigate the influence of Y chromosome haplogroups on Chagas disease severity in men.
- To assess the association between Y chromosome ancestry and clinical presentation of Chagas disease.
- To explore potential protective genetic markers for cardiovascular complications.
Main Methods:
- Comparative analysis of 150 men with Chagas disease (CD) and 150 men with non-chagasic disease (nCD).
- Assessment of serological diagnosis, clinical parameters, and cardiac function (echocardiography, electrocardiogram).
- Y chromosome haplogroup determination using 17 microsatellite markers and logistic regression analysis.
Main Results:
- The R1b haplogroup was more prevalent in the non-chagasic disease group, while G2a was more common in the Chagas disease group.
- Men with the R1b haplogroup exhibited fewer clinical signs of Chagas disease.
- Absence of the R1b haplogroup increased the likelihood of cardiac alterations (cardio-thorax index >0.5% and EcoCG alterations) in Chagas disease patients.
Conclusions:
- The R1b Y chromosome haplogroup may confer a protective cardiovascular effect in men with Chagas disease.
- Y chromosome haplogroup analysis could aid in stratifying Chagas disease patients by cardiovascular risk.
- Further research is warranted to elucidate the mechanisms behind this potential protective effect.
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.
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