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Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism

2016Journal article Open access
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dc.contributor.authorAbrantes, Patrícia
dc.contributor.authorRosa, Alexandra
dc.contributor.authorFrancisco, Vânia
dc.contributor.authorSousa, Inês
dc.contributor.authorXavier, Joana M.
dc.contributor.authorOliveira, Sofia A.
dc.date.accessioned2022-03-04T10:00:13Z
dc.date.available2022-03-04T10:00:13Z
dc.date.issued2016
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 nu clear), 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 10 3 pa 3.96 10 2 ) with PAD in the logistic regression adjusted for confounding factors, and m.11914G > A was nominally associated (pa ¼ 4.14 10 2 ) with VTE. None of the nine major mito chondrial haplogroups were associated with either PAD or VTE. Conclusion: Unlike other vascular diseases such as stroke and diabetes, these results suggest that com mon mitochondrial variants individually or in combination do not play a major role in PAD and VTE susceptibility.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAbrantes, P., Rosa, A., Francisco, V., Sousa, I., Xavier, J. M., & Oliveira, S. A. (2016). Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism. Atherosclerosis, 252, 97-105. https://doi.org/10.1016/j.atherosclerosis.2016.07.920pt_PT
dc.identifier.doi10.1016/j.atherosclerosis.2016.07.920pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.13/4113
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relationPatients as Health Care Innovators: An Empirical Investigation of Treatment, Therapies and Medical Devices (TT&MD) developed by Patients of Chronic Diseases
dc.relationGENETICS OF INTRACRANIAL ANEURYSMS: FROM ANIMAL MODEL TO HUMANS
dc.relationGENETICS AND GENOMICS OF PRIMARY SPONTANEOUS PNEUMOTHORAX
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectPeripheral arterial diseasept_PT
dc.subjectVenous thromboembolismpt_PT
dc.subjectMitochondrial genomept_PT
dc.subjectGenetic association studypt_PT
dc.subject.pt_PT
dc.subjectFaculdade de Ciências da Vidapt_PT
dc.titleMitochondrial genome association study with peripheral arterial disease and venous thromboembolismpt_PT
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.awardTitleGENETICS OF INTRACRANIAL ANEURYSMS: FROM ANIMAL MODEL TO HUMANS
oaire.awardTitleGENETICS AND GENOMICS OF PRIMARY SPONTANEOUS PNEUMOTHORAX
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.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBPD%2F35737%2F2007/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/OE/SFRH%2FBPD%2F70008%2F2010/PT
oaire.citation.endPage105pt_PT
oaire.citation.startPage97pt_PT
oaire.citation.titleAtherosclerosispt_PT
oaire.citation.volume252pt_PT
oaire.fundingStream3599-PPCDT
oaire.fundingStream5665-PICT
oaire.fundingStreamOE
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.identifierhttp://doi.org/10.13039/501100001871
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
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
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