Table 1: Genetic polymorphisms in Chagas disease cardiomyopathy.

GenesSNPEffectAssociation to cardiomyopathyReferences

TNFαPro-inflammatory cytokines[25, 26]
−308 G/A
High TNF-a production42 CCCAllele TNF2 or microsatellite TNFa2 associated with worse prognosis
Shorter survival time compared with those carrying other alleles
166 CCCNo significant differences between CCC and ASY patients[26]
80 ASY
Lack of association of TNF polymorphisms with CCC development or to progression cardiomyopthy

BAT1−22 C/G
Anti-inflammatory activity associated with reduced expression of HLA-B-1 154 CCC
76 ASY
Homozygous −22 CC and −348 CC more frequent in CCC than in ASY
Both variants are predictive of CCC evolution

LTA+80 A/C
+252 A/G
Pro-inflammatory cytokines169 CCC
76 ASY
Homozygous +80CC and +252GG more frequent in CCC than in ASY
Haplotype +80 C +252 G associated to CCC susceptibility

Pathogen recognition receptors
Component of innate immunity
169 CCC
76 ASY
TLR polymorphisms did not show major risk factors for the development of CCC[29]

MAL/TIRAPEncodes an adaptor protein for TLR169 CCC
76 ASY
Heterozygous MAL/TIRAP S180L associated with lower risk of developing CCC[29]

TGFβ1−988 C/A
−800 G/A
−509 C/T
10 T/C
263 C/T
Multifunctional cytokine172 CCC
175 ASY
279 health control patients
−988 C/A and 263 C/T were not detected
−800 A was uncommon, and −509 C/T was not associated with Chagas disease
Allele C and the genotype C/C at codon 10 were associated with Chagas disease patients
Allele C may be a risk factor for genetic susceptibility to Chagas disease patients

MASP2Six SNPInvolved in the complement system208 Chagas disease
300 health control patients
MASP2*CD genotypes were associated risk of CCC[31]

IL-1RN 6/1
IL-1RN 6/2
Pro-inflammatory cytokines
Receptor antagonist
58 CCC
28 ASY
50 IDC
C allele or CC genotype of the IL-1RN.4 was increased in CCC
when compared with IDC and health control patients, evidencing association between this polymorphisms and CCC development

ASY: asymptomatic patients; CCC: chronic Chagasic cardiomyopathy patients; IDC: idiopathic dilated cardiomyopathy patients.