Author | Fava, Vinicius M. | |
Author | Manry, Jeremy | |
Author | Cobat, Aurélie | |
Author | Orlova, Marianna | |
Author | Van Thuc, Nguyen | |
Author | Moraes, Milton O. | |
Author | Marques, Carolinne Sales | |
Author | Stefani, Mariane M. A. | |
Author | Latini, Ana Carla P. | |
Author | Belone, Andrea F. | |
Author | Thai, Vu Hong | |
Author | Abel, Laurent | |
Author | Alcaïs, Alexandre | |
Author | Schurr, Erwin | |
Access date | 2018-02-08T11:28:23Z | |
Available date | 2018-02-08T11:28:23Z | |
Document date | 2017 | |
Citation | FAVA, Vinicius M. et al. A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy. PLoS Genet., v.13, n.2, e1006637, 16p, Feb. 2017. | pt_BR |
ISSN | 1553-7390 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/24757 | |
Language | eng | pt_BR |
Publisher | Public Library of Science | pt_BR |
Rights | open access | pt_BR |
Subject in Portuguese | Hanseníase | pt_BR |
Subject in Portuguese | Fator de risco | pt_BR |
Subject in Portuguese | RNA Longo não Codificante | pt_BR |
Subject in Portuguese | inflamatório patológico | pt_BR |
Title | A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy | pt_BR |
Type | Article | pt_BR |
DOI | 10.1371/journal.pgen.1006637 | |
Abstract | Leprosy Type-1 Reactions (T1Rs) are pathological inflammatory responses that afflict a sub-group of leprosy patients and result in peripheral nerve damage. Here, we employed a family-based GWAS in 221 families with 229 T1R-affect offspring with stepwise replication to identify risk factors for T1R. We discovered, replicated and validated T1R-specific associations with SNPs located in chromosome region 10p21.2. Combined analysis across the three independent samples resulted in strong evidence of association of rs1875147 with T1R (p = 4.5x10-8; OR = 1.54, 95% CI = 1.32-1.80). The T1R-risk locus was restricted to a lncRNA-encoding genomic interval with rs1875147 being an eQTL for the lncRNA. Since a genetic overlap between leprosy and inflammatory bowel disease (IBD) has been detected, we evaluated if the shared genetic control could be traced to the T1R endophenotype. Employing the results of a recent IBD GWAS meta-analysis we found that 10.6% of IBD SNPs available in our dataset shared a common risk-allele with T1R (p = 2.4x10-4). This finding points to a substantial overlap in the genetic control of clinically diverse inflammatory disorders. | pt_BR |
Affilliation | Research Institute of the McGill University Health Centre. Program in Infectious Diseases and Immunity in Global Health. Montreal, Quebec, canada / McGill University. The McGill International TB Centre, Departments of Human Genetics and Medicine. Montreal, Quebec, Canada. | pt_BR |
Affilliation | Research Institute of the McGill University Health Centre. Program in Infectious Diseases and Immunity in Global Health. Montreal, Quebec, canada / McGill University. The McGill International TB Centre, Departments of Human Genetics and Medicine. Montreal, Quebec, Canada. | pt_BR |
Affilliation | Institut National de la Santé et de la Recherche Médicale. Laboratory of Human Genetics of Infectious Diseases. Necker Branch. Paris, France / University Paris Descartes. Imagine Institute. Paris, France / Rockefeller University. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. New York, USA. | pt_BR |
Affilliation | Research Institute of the McGill University Health Centre. Program in Infectious Diseases and Immunity in Global Health. Montreal, Quebec, canada / McGill University. The McGill International TB Centre, Departments of Human Genetics and Medicine. Montreal, Quebec, Canada. | pt_BR |
Affilliation | Hospital for Dermato-Venerology. Ho Chi Minh City, Vietnam. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Hanseníase. Rio de Janeiro, RJ. Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Hanseníase. Rio de Janeiro, RJ. Brasil. | pt_BR |
Affilliation | Universidade Federal de Goiás. Instituto de Saúde Pública e Patologia Tropical. Goiânia, GO, Brasil | pt_BR |
Affilliation | Instituto Lauro de Souza Lima. Bauru, SP. Brasil. | pt_BR |
Affilliation | Instituto Lauro de Souza Lima. Bauru, SP. Brasil. | pt_BR |
Affilliation | Hospital for Dermato-Venerology. Ho Chi Minh City, Vietnam. | pt_BR |
Affilliation | Institut National de la Santé et de la Recherche Médicale. Laboratory of Human Genetics of Infectious Diseases. Necker Branch. Paris, France / University Paris Descartes. Imagine Institute. Paris, France / Rockefeller University. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. New York, USA. | pt_BR |
Affilliation | Institut National de la Santé et de la Recherche Médicale. Laboratory of Human Genetics of Infectious Diseases. Necker Branch. Paris, France / University Paris Descartes. Imagine Institute. Paris, France / Rockefeller University. Giles Laboratory of Human Genetics of Infectious Diseases. Rockefeller Branch. New York, USA. | pt_BR |
Affilliation | Research Institute of the McGill University Health Centre. Program in Infectious Diseases and Immunity in Global Health. Montreal, Quebec, canada / McGill University. The McGill International TB Centre, Departments of Human Genetics and Medicine. Montreal, Quebec, Canada. | pt_BR |
Subject | Leprosy | pt_BR |
Subject | lncRna | pt_BR |
Subject | Risk factor | pt_BR |
Subject | pathological inflammatory | pt_BR |
e-ISSN | 1553-7404 | |