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Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism

2016-09Journal article Restricted access
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dc.contributor.authorAbrantes, Patrícia
dc.contributor.authorRosa, Alexandra
dc.contributor.authorFrancisco, Vania
dc.contributor.authorSousa, Inês
dc.contributor.authorM Xavier, Joana
dc.contributor.authorOliveira, Sofia A.
dc.date.accessioned2017-04-07T15:56:03Z
dc.date.available2017-04-07T15:56:03Z
dc.date.issued2016-09
dc.description.abstractBackground and aims: Peripheral arterial disease (PAD) and venous thromboembolism (VTE) are vascular traits sharing common modifiable and non-modifiable risk factors. These vascular pathologies have known nuclear-encoded genetic risk factors and the mitochondrial DNA may account for part of the missing heritability. To determine if PAD and VTE have a dual genetic control (mitochondrial and nuclear), we hereby investigated the association of mitochondrial DNA polymorphisms and haplogroups with these vascular traits.Methods: The association of mitochondrial single nucleotide polymorphisms (mtSNPs) and haplogroups was tested in 1652 PAD cases and 1629 controls from the eMERGE PAD genome-wide association study (GWAS), and 1241 VTE cases and 1278 controls from the GENEVA GWAS of venous thrombosis (dbGaP accession numbers phs000203. v1. p1 and phs000289. v2. p1, respectively).Results: 66 and 72 mtSNPs passed quality control filters and were tested for association with PAD and VTE, respectively. Significant evidence of population stratification could not be detected in both datasets. Three mtSNPs (m. 477T > C, m. 9667A > G, and m. 10915T > C) were nominally associated (3.01 x 10(-3) <= pa <= 3.96 x 10(-2)) with PAD in the logistic regression adjusted for confounding factors, and m. 11914G > A was nominally associated (pa = 4.14 x 10(-2)) with VTE. None of the nine major mitochondrial haplogroups were associated with either PAD or VTE.Conclusion: Unlike other vascular diseases such as stroke and diabetes, these results suggest that common mitochondrial variants individually or in combination do not play a major role in PAD and VTE susceptibility. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
dc.identifier.doi10.1016/j.atherosclerosis.2016.07.920
dc.identifier.issn0021-9150
dc.identifier.urihttp://hdl.handle.net/10400.1/9299
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier
dc.relationPatients as Health Care Innovators: An Empirical Investigation of Treatment, Therapies and Medical Devices (TT&MD) developed by Patients of Chronic Diseases
dc.relation.isbasedonWOS:000389480300014
dc.titleMitochondrial genome association study with peripheral arterial disease and venous thromboembolism
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitlePatients as Health Care Innovators: An Empirical Investigation of Treatment, Therapies and Medical Devices (TT&MD) developed by Patients of Chronic Diseases
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FIIM-GES%2F5015%2F2012/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5665-PICT/CMUP-ERI%2FTPE%2F0028%2F2013/PT
oaire.citation.endPage105
oaire.citation.startPage97
oaire.citation.titleAtherosclerosis
oaire.citation.volume252
oaire.fundingStream3599-PPCDT
oaire.fundingStream5665-PICT
person.familyNameGonçalves de Gouveia Maia Xavier
person.givenNameJoana
person.identifier1489493
person.identifier.ciencia-idEE13-176A-5613
person.identifier.orcid0000-0002-0702-6700
person.identifier.ridI-4676-2014
person.identifier.scopus-author-id36061472900
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsrestrictedAccess
rcaap.typearticle
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relation.isAuthorOfPublication.latestForDiscovery9a0f7a49-40d0-4e4d-aa5a-d32442a14c63
relation.isProjectOfPublication146886a7-369a-43a9-ac36-4242e098502e
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