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Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patients

2008Journal article Open access
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dc.contributor.authorRosa, Alexandra
dc.contributor.authorFonseca, Benedita V.
dc.contributor.authorKrug, Tiago
dc.contributor.authorManso, Helena
dc.contributor.authorGouveia, Liliana
dc.contributor.authorAlbergaria, Isabel
dc.contributor.authorGaspar, Gisela
dc.contributor.authorCorreia, Manuel
dc.contributor.authorViana-Baptista, Miguel
dc.contributor.authorSimões, Rita Moiron
dc.contributor.authorPinto, Amélia Nogueira
dc.contributor.authorTaipa, Ricardo
dc.contributor.authorFerreira, Carla
dc.contributor.authorFontes, João Ramalho
dc.contributor.authorSilva, Mário Rui
dc.contributor.authorGabriel, João Paulo
dc.contributor.authorMatos, Ilda
dc.contributor.authorLopes, Gabriela
dc.contributor.authorFerro, José M
dc.contributor.authorVicente, Astrid M
dc.contributor.authorOliveira, Sofia A.
dc.date.accessioned2022-03-07T15:52:24Z
dc.date.available2022-03-07T15:52:24Z
dc.date.issued2008
dc.description.abstractBackground: 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 samplept_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationRosa, 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/10.1186/1471-2350-9-57pt_PT
dc.identifier.doi10.1186/1471-2350-9-57pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/4121
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMCpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectMitochondrial haplogroup H1pt_PT
dc.subjectIschemic strokept_PT
dc.subjectPortugalpt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências da Vidapt_PT
dc.titleMitochondrial haplogroup H1 is protective for ischemic stroke in portuguese patientspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F64426%2F2006/PT
oaire.citation.issue1pt_PT
oaire.citation.titleBMC Medical Geneticspt_PT
oaire.citation.volume9pt_PT
oaire.fundingStream3599-PPCDT
person.familyNameda Silva Rosa
person.givenNamePatrícia Alexandra
person.identifier.ciencia-idF01B-3B5B-2269
person.identifier.orcid0000-0002-1827-6828
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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relation.isAuthorOfPublication.latestForDiscoverycc0e7b32-45ac-4aad-9256-32bc9de21975
relation.isProjectOfPublication730a3004-0db6-4ecf-8eee-59ecb96b8aa3
relation.isProjectOfPublication.latestForDiscovery730a3004-0db6-4ecf-8eee-59ecb96b8aa3

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