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Genetic Variants Associated with Life Expectancy in Patients with Chagas Disease.
Mario Bruno Principato1,2, Maria Victoria Carvelli1,2, Analia Paolucci1,2
1Cardiology Department, Ramos Mejía Hospital, Ciudad Autónoma de Buenos Aires C1221ADC, Argentina.
Medical Sciences (Basel, Switzerland)
|March 27, 2026
Summary
Single nucleotide polymorphisms (SNPs) impact Chagas disease survival. Two specific SNPs, rs7310615 and rs7405731, were linked to reduced mortality risk in patients.
Area of Science:
- Genetics
- Cardiology
- Epidemiology
Background:
- Single nucleotide polymorphisms (SNPs) are common genetic variations influencing biological processes.
- Identifying SNPs is crucial for risk stratification, preventive strategies, and personalized medicine in chronic diseases.
Purpose of the Study:
- To investigate the association between SNPs and survival in patients with Chagas disease.
- To identify genetic profiles linked to increased mortality risk.
Main Methods:
- Included 182 seropositive Chagas disease patients with >20 years duration.
- Analyzed SNPs in cardiac structure genes using Cox regression and Kaplan-Meier survival analysis.
- Developed a genetic risk score based on significant SNPs.
Main Results:
- Three of 68 SNPs showed association with survival in univariate analysis.
- rs3755863 (PPARGC1A) increased mortality risk (HR=1.94), while rs7310615 (SH2B3) and rs7405731 (JUP) showed protective effects (HR=0.45, HR=0.48).
- rs7310615 and rs7405731 remained significant in multivariate analysis; a genetic risk score was developed.
Conclusions:
- Identified two SNPs (rs7310615, rs7405731) significantly associated with survival in Chagas disease.
- Findings require validation in larger, diverse populations.
- Validated SNPs could identify high-risk patient subgroups.
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