Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/31485
Title: Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America
Authors: Oliveira, Pablo Rafael Silveira
Costa, Gustavo Nunes de Oliveira
Damasceno, Andresa Karen Andrade
Hartwig, Fernando Pires
Barbosa, George C G
Figueiredo, Camila Alexandrina Viana de
Silva, Rita de Cássia Ribeiro
Pereira, Alexandre
Costa, Maria Fernanda Furtado de Lima
Kehdy, Fernanda de Souza Gomes
Santos, Eduardo Martin Tarazona
Horta, Bernardo Lessa
Rodrigues, Laura Cunha
Fiaccone, Rosemeire Leovigildo
Barreto, Maurício Lima
Affilliation: Federal University of Bahia. Institute of Collective Health. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Centro de Integração de Dados e Conhecimento para a Saúde. Salvador, BA, Brasil.
Federal University of Bahia. Institute of Collective Health. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Centro de Integração de Dados e Conhecimento para a Saúde. Salvador, BA, Brasil.
Federal University of Bahia. Institute of Collective Health. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Centro de Integração de Dados e Conhecimento para a Saúde. Salvador, BA, Brasil.
Federal University of Pelotas. Postgraduate Program in Epidemiology. Pelotas, RGS, Brazil / University of Bristol. Medical Research Council Integrative Epidemiology Unit. Bristol, United Kingdom.
Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Centro de Integração de Dados e Conhecimento para a Saúde. Salvador, BA, Brasil / Federal University of Bahia. Institute of Mathematics. Department of Statistics. Salvador, BA, Brazil.
Federal University of Bahia. Institute of Health Sciences. Salvador, BA, Brazil.
Federal University of Bahia. Nutrition School. Salvador, BA, Brazil.
University of São Paulo. Heart Institute. São Paulo, SP, Brazil.
Fundação Oswaldo Cruz. Instituto Rene Rachou. Belo Horizonte, MG, Brasil.
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Lepra. Rio de Janeiro, RJ, Brasil.
Federal University of Minas Gerais. Institute of Biological Sciences. Belo Horizonte, MG, Brazil.
Federal University of Pelotas. Postgraduate Program in Epidemiology. Pelotas, RGS, Brazil.
London School of Hygiene and Tropical Medicine. Faculty of Epidemiology. Department of Infectious Disease Epidemiology. London, WC, UK.
Federal University of Bahia. Institute of Mathematics. Department of Statistics. Salvador, BA, Brazil.
Federal University of Bahia. Institute of Collective Health. Salvador, BA, Brasil / Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Centro de Integração de Dados e Conhecimento para a Saúde. Salvador, BA, Brasil.
Abstract: The genetic architecture of asthma was relatively well explored. However, some work remains in the field to improve our understanding on asthma genetics, especially in non-Caucasian populations and with regards to commonly neglected genetic variants, such as Copy Number Variations (CNVs). In the present study, we investigated the contribution of CNVs on asthma risk among Latin Americans. CNVs were inferred from SNP genotyping data. Genome wide burden and association analyses were conducted to evaluate the impact of CNVs on asthma outcome. We found no significant difference in the numbers of CNVs between asthmatics and non-asthmatics. Nevertheless, we found that CNVs are larger in patients then in healthy controls and that CNVs from cases intersect significantly more genes and regulatory elements. We also found that a deletion at 6p22.1 is associated with asthma symptoms in children from Salvador (Brazil) and in young adults from Pelotas (Brazil). To support our results, we conducted an in silico functional analysis and found that this deletion spans several regulatory elements, including two promoter elements active in lung cells. In conclusion, we found robust evidence that CNVs could contribute for asthma susceptibility. These results uncover a new perspective on the influence of genetic factors modulating asthma risk.
Keywords: Asthma
Genetics
Children
Adults
Genotyping Techniques
Latin America
Inflammation
Dyspnea
keywords: Asma
Genética
Crianças
Adultos
Técnicas de Genotipagem
America Latina
Inflamação
Dispneia
Issue Date: 2018
Publisher: Nature Research
Citation: OLIVEIRA, P. R. S. et al. Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America. Scientific Reports, v. 8, p. 1-10, 2018.
DOI: 10.1038/s41598-018-32837-w
ISSN: 2045-2322
Copyright: open access
Appears in Collections:IOC - Artigos de Periódicos
MG - IRR - Artigos de Periódicos
BA - IGM - Artigos de Periódicos

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