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.
Abstract

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
204
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
7.5K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.0K
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
326
Acute Coronary Syndrome III: Diagnostic Studies01:30

Acute Coronary Syndrome III: Diagnostic Studies

Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
111
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
265