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A Genome-Wide Association Study Identifies Novel Susceptibility loci in Chronic Chagas Cardiomyopathy

Desiré Casares-Marfil1, Mariana Strauss2, Pau Bosch-Nicolau3

  • 1Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.

Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America
|February 4, 2021
PubMed

Insights

Researchers identified a new genetic marker, rs2458298, linked to chronic Chagas cardiomyopathy in patients. This finding highlights host genetic factors in Chagas disease progression.

Area of Science:

  • Genetics
  • Infectious Diseases
  • Cardiology

Background:

  • Chagas disease, caused by Trypanosoma cruzi, is prevalent in Latin America.
  • Chronic Chagas cardiomyopathy is a severe complication of this neglected tropical disease.

Purpose of the Study:

  • To identify novel genetic loci associated with chronic Chagas cardiomyopathy.
  • To investigate genetic susceptibility in diverse Latin American populations.

Main Methods:

  • A genome-wide association study (GWAS) was conducted on 3413 Chagas disease patients from Colombia, Argentina, Bolivia, and Brazil.
  • Samples underwent genotyping, and results were meta-analyzed.
  • In silico analysis was performed to understand the functional impact of associated variants.

Main Results:

  • A novel genome-wide significant association (rs2458298) was found near the SAC3D1 gene (P-value = 3.27 × 10-08).
  • In silico analysis revealed functional links between the variant and cardiovascular-related genes (SNX15, BAFT2, FERMT3).

Conclusions:

  • Host genetic factors play a role in susceptibility to chronic Chagas cardiomyopathy.
  • This research contributes to understanding the genetic basis of this neglected disease.
Abstract

Keywords:
Trypanosoma cruziChagas diseaseGWASLatin Americancardiomyopathygenetic associationmeta-analysis

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