cris.boxmetadata.label.title
Genetic association study of NLRP1, CARD, and CASP1 inflammasome genes with chronic Chagas cardiomyopathy among Trypanosoma cruzi seropositive patients in Bolivia
cris.boxmetadata.label.dateissued
01 browse.startsWith.months.february 2018
cris.boxmetadata.label.accesslevel
open access
cris.boxmetadata.label.resourcetype
journal article
cris.boxmetadata.label.authors
Johns Hopkins Bloomberg School of Public Health
cris.boxmetadata.label.publisher
Public Library of Science
cris.boxmetadata.label.abstract
About 20–30% of people infected with Chagas disease present with chronic Chagas cardiomyopathy (CCC), the most serious and frequent manifestation of the disease, while others remain asymptomatic and often do not experience Chagas-specific mortality. It is not currently well understood what causes these differential disease outcomes, but a genetic predisposition within the host could play an important role. This study examined variants in the NLRP1, CARD, and CASP1 inflammasome genes among 62 T. cruzi seropositive patients from Bolivia (38 cases with CCC and 24 asymptomatic controls) to uncover associations with CCC. All subjects underwent a complete medical examination including electrocardiogram (EKG) and echocardiogram. After genotype calling and quality control filtering with exclusion of 3 cases and 3 controls, association analysis was performed across 76 directly genotyped SNPs in NLRP1, CARD, and CASP1 genes, adjusting for age, sex, and population stratification. One SNP (rs11651270; Bonferroni-corrected p = 0.036) corresponding to a missense mutation in NLPR1 was found to be significant after adjustment for multiple testing, and a suggestive association was seen in CARD11 (rs6953573; Bonferroni-corrected p = 0.060). Although limited by sample size, the study results suggest variations in the inflammasome, particularly in NLRP1 and CARD11, may be associated with CCC.
cris.boxmetadata.label.volume
13
cris.boxmetadata.label.issue
2
cris.boxmetadata.label.language
English
cris.boxmetadata.label.ocdeknowledgeArea
Sistema cardiaco, Sistema cardiovascular
Genética, Herencia
cris.boxmetadata.label.doi
cris.boxmetadata.label.scopusidentifier
2-s2.0-85042091619
cris.boxmetadata.label.pubmedidentifier
cris.boxmetadata.label.source
PLoS ONE
cris.boxmetadata.label.sponsor
unding text
Funding was provided by the US National Institutes of Health, National Institute on Allergy and Infectious Disease Grant number: 5R01AI107028-04 to RHG. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
peru-layout.shadow-copies
Directorio de Producción Científica
Scopus