Genetic factors and the immunologic response have been suggested to determine the susceptibility against the infection and the outcome of Chagas disease. In the present study, we analysed three IL17A genetic variants (rs4711998, rs8193036 and rs2275913) regarding the predisposition to Trypanosoma cruzi infection and the development of chronic Chagas cardiomyopathy (CCC) in different Latin American populations. A total of 2,967 individuals from Colombia, Argentina, Bolivia and Brazil, were included in this study. The individuals were classified as seronegative and seropositive for T. cruzi antigens, and this last group were divided into asymptomatic and CCC. For T. cruzi infection susceptibility, the IL17A rs2275913*A showed a significant association in a fixed-effect meta-analysis after a Bonferroni correction (P = 0.016, OR = 1.21, 95%CI = 1.06-1.41). No evidence of association was detected when comparing CCC vs. asymptomatic patients. However, when CCC were compared with seronegative individuals, it showed a nominal association in the meta-analysis (P = 0.040, OR = 1.20, 95%CI = 1.01-1.45). For the IL17A rs4711998 and rs8193036, no association was observed. In conclusion, our results suggest that IL17A rs2275913 plays an important role in the susceptibility to T. cruzi infection and could also be implicated in the development of chronic cardiomyopathy in the studied Latin American population.
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http://dx.doi.org/10.1038/s41598-020-61965-5 | DOI Listing |
Am J Hum Genet
December 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:
In recent years, significant efforts have been made to improve methods for genomic studies of admixed populations using local ancestry inference (LAI). Accurate LAI is crucial to ensure that downstream analyses accurately reflect the genetic ancestry of research participants. Here, we test analytic strategies for LAI to provide guidelines for optimal accuracy, focusing on admixed populations reflective of Latin America's primary continental ancestries-African (AFR), Amerindigenous (AMR), and European (EUR).
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Signaling and Gene Expression, La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037.
is one of the three most frequently mutated genes in age-related clonal hematopoiesis (CH), alongside and (. CH can progress to myeloid malignancies including chronic monomyelocytic leukemia (CMML) and is also strongly associated with inflammatory cardiovascular disease and all-cause mortality in humans. DNMT3A and TET2 regulate DNA methylation and demethylation pathways, respectively, and loss-of-function mutations in these genes reduce DNA methylation in heterochromatin, allowing derepression of silenced elements in heterochromatin.
View Article and Find Full Text PDFRev Alerg Mex
December 2024
Universidad Espíritu Santo, Samborondón, Guayas, Ecuador.
Atopic dermatitis (AD) is a disease that significantly impacts the quality of life of patients. Although there are multiple evidence-based guidelines, they are usually aimed at providing recommendations to AD specialists rather than primary care physicians (PCPs). The aim of this study was to construct a consensus document for PCPs, with the aim of presenting evidence-based recommendations that allow general practitioners, family physicians, pediatricians, internists and emergency physicians to provide appropriate care to AD patients, facilitating their diagnosis, management, and avoiding delays that can deteriorate patients' f quality of life.
View Article and Find Full Text PDFJ Racial Ethn Health Disparities
January 2025
Epidemiology and Health Economics Research (EHER), Universidad Científica del Sur, Lima, Peru.
Background: The Afro-Peruvian population is one of the ethnic minorities most affected by cultural, socioeconomic, and health barriers; however, there is little evidence on health inequalities in this ethnic group. Therefore, We aimed to determine health inequalities among the Peruvian Afro-descendant population in comparison with non-Afro-descendants.
Methods: A cross-sectional study was conducted using data from the Demographic and Family Health Survey 2022.
Cancer Immunol Immunother
January 2025
Oncology Unit, Macerata Hospital, Macerata, Italy.
Introduction: Renal cell carcinoma (RCC) is one of the most common types of urogenital cancer. The introduction of immune-based combinations, including dual immune-checkpoint inhibitors (ICI) or ICI plus tyrosine kinase inhibitors (TKIs), has radically changed the treatment landscape for metastatic RCC, showing varying efficacy across different prognostic groups based on the International Metastatic RCC Database Consortium (IMDC) criteria.
Materials And Methods: This retrospective multicenter study, part of the ARON-1 project, aimed to evaluate the outcomes of favorable-risk metastatic RCC patients treated with immune-based combinations or sunitinib.
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