Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.13/4121 |
Resumo: | Background: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to assess the contribution of mtDNA polymorphisms and haplogroups to ischemic stroke risk. Methods: We genotyped 19 mtDNA single nucleotide polymorphisms (SNPs) defining the major European haplogroups in 534 ischemic stroke patients and 499 controls collected in Portugal, and tested their allelic and haplogroup association with ischemic stroke risk. Results: Haplogroup H1 was found to be significantly less frequent in stroke patients than in controls (OR = 0.61, 95% CI = 0.45–0.83, p = 0.001), when comparing each clade against all other haplogroups pooled together. Conversely, the pre-HV/HV and U mtDNA lineages emerge as potential genetic factors conferring risk for stroke (OR = 3.14, 95% CI = 1.41–7.01, p = 0.003, and OR = 2.87, 95% CI = 1.13–7.28, p = 0.021, respectively). SNPs m.3010G>A, m.7028C>T and m.11719G>A strongly influence ischemic stroke risk, their allelic state in haplogroup H1 corroborating its protective effect. Conclusion: Our data suggests that mitochondrial haplogroup H1 has an impact on ischemic stroke risk in a Portuguese sample |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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7160 |
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Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patientsMitochondrial haplogroup H1Ischemic strokePortugal.Faculdade de Ciências da VidaBackground: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to assess the contribution of mtDNA polymorphisms and haplogroups to ischemic stroke risk. Methods: We genotyped 19 mtDNA single nucleotide polymorphisms (SNPs) defining the major European haplogroups in 534 ischemic stroke patients and 499 controls collected in Portugal, and tested their allelic and haplogroup association with ischemic stroke risk. Results: Haplogroup H1 was found to be significantly less frequent in stroke patients than in controls (OR = 0.61, 95% CI = 0.45–0.83, p = 0.001), when comparing each clade against all other haplogroups pooled together. Conversely, the pre-HV/HV and U mtDNA lineages emerge as potential genetic factors conferring risk for stroke (OR = 3.14, 95% CI = 1.41–7.01, p = 0.003, and OR = 2.87, 95% CI = 1.13–7.28, p = 0.021, respectively). SNPs m.3010G>A, m.7028C>T and m.11719G>A strongly influence ischemic stroke risk, their allelic state in haplogroup H1 corroborating its protective effect. Conclusion: Our data suggests that mitochondrial haplogroup H1 has an impact on ischemic stroke risk in a Portuguese sampleBMCDigitUMaRosa, AlexandraFonseca, Benedita V.Krug, TiagoManso, HelenaGouveia, LilianaAlbergaria, IsabelGaspar, GiselaCorreia, ManuelViana-Baptista, MiguelSimões, Rita MoironPinto, Amélia NogueiraTaipa, RicardoFerreira, CarlaFontes, João RamalhoSilva, Mário RuiGabriel, João PauloMatos, IldaLopes, GabrielaFerro, José MVicente, Astrid MOliveira, Sofia A2022-03-07T15:52:24Z20082008-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.13/4121engRosa, A., Fonseca, B. V., Krug, T., Manso, H., Gouveia, L., Albergaria, I., ... & Oliveira, S. A. (2008). Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients. BMC Medical Genetics, 9(1), 1-10. https://doi.org/10.1186/1471-2350-9-5710.1186/1471-2350-9-57info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-02-19T04:42:47Zoai:digituma.uma.pt:10400.13/4121Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:07:57.036307Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients |
title |
Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients |
spellingShingle |
Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients Rosa, Alexandra Mitochondrial haplogroup H1 Ischemic stroke Portugal . Faculdade de Ciências da Vida |
title_short |
Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients |
title_full |
Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients |
title_fullStr |
Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients |
title_full_unstemmed |
Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients |
title_sort |
Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients |
author |
Rosa, Alexandra |
author_facet |
Rosa, Alexandra Fonseca, Benedita V. Krug, Tiago Manso, Helena Gouveia, Liliana Albergaria, Isabel Gaspar, Gisela Correia, Manuel Viana-Baptista, Miguel Simões, Rita Moiron Pinto, Amélia Nogueira Taipa, Ricardo Ferreira, Carla Fontes, João Ramalho Silva, Mário Rui Gabriel, João Paulo Matos, Ilda Lopes, Gabriela Ferro, José M Vicente, Astrid M Oliveira, Sofia A |
author_role |
author |
author2 |
Fonseca, Benedita V. Krug, Tiago Manso, Helena Gouveia, Liliana Albergaria, Isabel Gaspar, Gisela Correia, Manuel Viana-Baptista, Miguel Simões, Rita Moiron Pinto, Amélia Nogueira Taipa, Ricardo Ferreira, Carla Fontes, João Ramalho Silva, Mário Rui Gabriel, João Paulo Matos, Ilda Lopes, Gabriela Ferro, José M Vicente, Astrid M Oliveira, Sofia A |
author2_role |
author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
DigitUMa |
dc.contributor.author.fl_str_mv |
Rosa, Alexandra Fonseca, Benedita V. Krug, Tiago Manso, Helena Gouveia, Liliana Albergaria, Isabel Gaspar, Gisela Correia, Manuel Viana-Baptista, Miguel Simões, Rita Moiron Pinto, Amélia Nogueira Taipa, Ricardo Ferreira, Carla Fontes, João Ramalho Silva, Mário Rui Gabriel, João Paulo Matos, Ilda Lopes, Gabriela Ferro, José M Vicente, Astrid M Oliveira, Sofia A |
dc.subject.por.fl_str_mv |
Mitochondrial haplogroup H1 Ischemic stroke Portugal . Faculdade de Ciências da Vida |
topic |
Mitochondrial haplogroup H1 Ischemic stroke Portugal . Faculdade de Ciências da Vida |
description |
Background: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to assess the contribution of mtDNA polymorphisms and haplogroups to ischemic stroke risk. Methods: We genotyped 19 mtDNA single nucleotide polymorphisms (SNPs) defining the major European haplogroups in 534 ischemic stroke patients and 499 controls collected in Portugal, and tested their allelic and haplogroup association with ischemic stroke risk. Results: Haplogroup H1 was found to be significantly less frequent in stroke patients than in controls (OR = 0.61, 95% CI = 0.45–0.83, p = 0.001), when comparing each clade against all other haplogroups pooled together. Conversely, the pre-HV/HV and U mtDNA lineages emerge as potential genetic factors conferring risk for stroke (OR = 3.14, 95% CI = 1.41–7.01, p = 0.003, and OR = 2.87, 95% CI = 1.13–7.28, p = 0.021, respectively). SNPs m.3010G>A, m.7028C>T and m.11719G>A strongly influence ischemic stroke risk, their allelic state in haplogroup H1 corroborating its protective effect. Conclusion: Our data suggests that mitochondrial haplogroup H1 has an impact on ischemic stroke risk in a Portuguese sample |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008 2008-01-01T00:00:00Z 2022-03-07T15:52:24Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.13/4121 |
url |
http://hdl.handle.net/10400.13/4121 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Rosa, A., Fonseca, B. V., Krug, T., Manso, H., Gouveia, L., Albergaria, I., ... & Oliveira, S. A. (2008). Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients. BMC Medical Genetics, 9(1), 1-10. https://doi.org/10.1186/1471-2350-9-57 10.1186/1471-2350-9-57 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
BMC |
publisher.none.fl_str_mv |
BMC |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799129947596390400 |