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- Title
A Genome-Wide Association Study Identifies Novel Susceptibility loci in Chronic Chagas Cardiomyopathy.
- Authors
Casares-Marfil, Desiré; Strauss, Mariana; Bosch-Nicolau, Pau; Presti, María Silvina Lo; Molina, Israel; Chevillard, Christophe; Cunha-Neto, Edecio; Sabino, Ester; Ribeiro, Antonio Luiz P; González, Clara Isabel; Martín, Javier; Acosta-Herrera, Marialbert
- Abstract
Background Chagas disease is an infectious disease caused by the parasite Trypanosoma cruzi and is endemic from Latin American countries. The goal of our study was to identify novel genetic loci associated with chronic Chagas cardiomyopathy development in Chagas disease patients from different Latin American populations. Methods We performed a cross-sectional, nested case-control study including 3 sample collections from Colombia, Argentina, and Bolivia. Samples were genotyped to conduct a genome-wide association study (GWAS). These results were meta-analyzed with summary statistic data from Brazil, gathering a total of 3413 Chagas disease patients. To identify the functional impact of the associated variant and its proxies, we performed an in silico analysis of this region. Results The meta-analysis revealed a novel genome-wide statistically significant association with chronic Chagas cardiomyopathy development in rs2458298 (OR = 0.90, 95%CI = 0.87–0.94, P-value = 3.27 × 10-08), nearby the SAC3D1 gene. In addition, further in silico analyses displayed functional relationships between the associated variant and the SNX15 , BAFT2, and FERMT3 genes, related to cardiovascular traits. Conclusions Our findings support the role of the host genetic factors in the susceptibility to the development of the chronic cardiac form of this neglected disease.
- Subjects
COLOMBIA; ARGENTINA; BOLIVIA; BRAZIL; LATIN America; CONFIDENCE intervals; CARDIOMYOPATHIES; CHRONIC diseases; CASE-control method; COMPARATIVE studies; DISEASE susceptibility; GENOMES; DESCRIPTIVE statistics; GENES; ODDS ratio
- Publication
Clinical Infectious Diseases, 2021, Vol 73, Issue 4, p672
- ISSN
1058-4838
- Publication type
Article
- DOI
10.1093/cid/ciab090