INGEBI   02650
INSTITUTO DE INVESTIGACIONES EN INGENIERIA GENETICA Y BIOLOGIA MOLECULAR "DR. HECTOR N TORRES"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
ASSOCIATION STUDY OF HUMAN SINGLE NUCLEOTIDE POLYMORPHISMS (SNPs) WITH CHRONIC CHAGAS CARDIOMYOPATHY (CCC) IN ARGENTINIAN POPULATION
Autor/es:
JUIZ, NA; HERNÁNDEZ, D; DELLAMEA, S ; SAPPA FIGUEROA, Y; LUCERO, H; LONGHI, SA; GONZÁLEZ, CI; SCHIJMAN, AG
Lugar:
Mar del Plata
Reunión:
Congreso; X Congreso Argentino de Protozoología y Enfermedades Parasitarias; 2014
Institución organizadora:
Sociedad Argentina de Protozoologia
Resumen:
Several studies have proposed different genetic markers as chemokines and cytokines genes for susceptibility to develop CCC. In particular, these studies have focused on SNPs, the most represented type of polymorphisms in the human genome. Despite the level of complexity and heterogeneity of the populations, many genes may be involved, each one making a small contribution. For this reason, an appropriate approach for this problematic is to study a large number of SNPs in individuals sharing a genetic background. The aim of our work was to analyze functional promoter SNPs in TNFR1B (rs976881, rs1061624 and rs3397), CCR2 (rs3138042) and CCR5 (rs2856758, rs2734648, rs1799987, rs1799988, rs41469351, rs1800023 and rs1800024) genes and their association with CCC in Argentinean populations from high endemicity areas for Chagas Disease. SNPs were determined by TaqMan® 5´ allelic discrimination assay method in 199 seropositive individuals (Asymptomatic patiens, N=132; CCC, N=67) belonging to Wichi and Creole populations. We found statistically significant differences in genotypic frequencies of two CCR5 SNPs (rs1799987 and rs1799988), when both groups of patients were compared. We also observed that mutant alleles in rs976881 (TNFR1B), rs2734648, rs41469351 and rs1800023 (CCR5) were more represented in CCC patients. Moreover, some CCR2/CCR5 haplotypes with a higher prevalence in CCC patients may confer susceptibility to cardiopathy development. However, we detected differences between Creole and Wichí allelic frequencies when these populations were taken separately. These data are consistent with a previous study that showed although Wichí and Creoles share a same geographical area, these sympatric populations are differentiated from the genetic point of view. This analysis showed that only the CCR5 SNP rs41469351 maintained its significance in Creole population (p=0.032), while among Wichí individuals the T allele was not represented.