Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2018 |
| Outros Autores: | , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| DOI: | 10.1038/s41598-018-32837-w |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/31485 |
Resumo: | Department of Science and Technology (DECIT, Ministry of Health, Brazil), National Fund for Scientific and Technological Development (FNDCT, Ministry of Science and Technology, Brazil), Funding of Studies and Projects (FINEP, Ministry of Science and Technology, Brazil), the Brazilian National Research Council (CNPq). Pablo Oliveira received a post-doctoral fellowship from the CNPq Foundation, the Ministry of Science, Technology, Innovation and Communication, Brazil. |
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Oliveira, Pablo Rafael SilveiraCosta, Gustavo Nunes de OliveiraDamasceno, Andresa Karen AndradeHartwig, Fernando PiresBarbosa, George C GFigueiredo, Camila Alexandrina Viana deSilva, Rita de Cássia RibeiroPereira, AlexandreCosta, Maria Fernanda Furtado de LimaKehdy, Fernanda de Souza GomesSantos, Eduardo Martin TarazonaHorta, Bernardo LessaRodrigues, Laura CunhaFiaccone, Rosemeire LeovigildoBarreto, Maurício Lima2019-02-07T17:50:42Z2019-02-07T17:50:42Z2018OLIVEIRA, 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, 2018.2045-2322https://www.arca.fiocruz.br/handle/icict/3148510.1038/s41598-018-32837-wDepartment of Science and Technology (DECIT, Ministry of Health, Brazil), National Fund for Scientific and Technological Development (FNDCT, Ministry of Science and Technology, Brazil), Funding of Studies and Projects (FINEP, Ministry of Science and Technology, Brazil), the Brazilian National Research Council (CNPq). Pablo Oliveira received a post-doctoral fellowship from the CNPq Foundation, the Ministry of Science, Technology, Innovation and Communication, 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.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.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.engNature ResearchAsmaGenéticaCriançasAdultosTécnicas de GenotipagemAmerica LatinaInflamaçãoDispneiaAsthmaGeneticsChildrenAdultsGenotyping TechniquesLatin AmericaInflammationDyspneaGenome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin Americainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/31485/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALOLIVEIRA, P. Genome-wide burden...2018.pdfOLIVEIRA, P. 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| dc.title.pt_BR.fl_str_mv |
Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America |
| title |
Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America |
| spellingShingle |
Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America Oliveira, Pablo Rafael Silveira Asma Genética Crianças Adultos Técnicas de Genotipagem America Latina Inflamação Dispneia Asthma Genetics Children Adults Genotyping Techniques Latin America Inflammation Dyspnea |
| title_short |
Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America |
| title_full |
Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America |
| title_fullStr |
Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America |
| title_full_unstemmed |
Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America |
| title_sort |
Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America |
| author |
Oliveira, Pablo Rafael Silveira |
| author_facet |
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 |
| author_role |
author |
| author2 |
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 |
| author2_role |
author author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
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 |
| dc.subject.other.pt_BR.fl_str_mv |
Asma Genética Crianças Adultos Técnicas de Genotipagem America Latina Inflamação Dispneia |
| topic |
Asma Genética Crianças Adultos Técnicas de Genotipagem America Latina Inflamação Dispneia Asthma Genetics Children Adults Genotyping Techniques Latin America Inflammation Dyspnea |
| dc.subject.en.pt_BR.fl_str_mv |
Asthma Genetics Children Adults Genotyping Techniques Latin America Inflammation Dyspnea |
| description |
Department of Science and Technology (DECIT, Ministry of Health, Brazil), National Fund for Scientific and Technological Development (FNDCT, Ministry of Science and Technology, Brazil), Funding of Studies and Projects (FINEP, Ministry of Science and Technology, Brazil), the Brazilian National Research Council (CNPq). Pablo Oliveira received a post-doctoral fellowship from the CNPq Foundation, the Ministry of Science, Technology, Innovation and Communication, Brazil. |
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2018 |
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2018 |
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2019-02-07T17:50:42Z |
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2019-02-07T17:50:42Z |
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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. |
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10.1038/s41598-018-32837-w |
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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. 2045-2322 10.1038/s41598-018-32837-w |
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