Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism
Autor(a) principal: | |
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Data de Publicação: | 2016 |
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/10400.13/4113 |
Resumo: | Background 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. |
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Mitochondrial genome association study with peripheral arterial disease and venous thromboembolismPeripheral arterial diseaseVenous thromboembolismMitochondrial genomeGenetic association study.Faculdade de Ciências da VidaBackground 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.ElsevierDigitUMaAbrantes, PatríciaRosa, AlexandraFrancisco, VâniaSousa, InêsXavier, Joana M.Oliveira, Sofia A.2022-03-04T10:00:13Z20162016-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.13/4113engAbrantes, 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.2016.07.92010.1016/j.atherosclerosis.2016.07.920info: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:RCAAP2023-03-19T05:36:36Zoai:digituma.uma.pt:10400.13/4113Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:07:56.341469Repositório 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 genome association study with peripheral arterial disease and venous thromboembolism |
title |
Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism |
spellingShingle |
Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism Abrantes, Patrícia Peripheral arterial disease Venous thromboembolism Mitochondrial genome Genetic association study . Faculdade de Ciências da Vida |
title_short |
Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism |
title_full |
Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism |
title_fullStr |
Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism |
title_full_unstemmed |
Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism |
title_sort |
Mitochondrial genome association study with peripheral arterial disease and venous thromboembolism |
author |
Abrantes, Patrícia |
author_facet |
Abrantes, Patrícia Rosa, Alexandra Francisco, Vânia Sousa, Inês Xavier, Joana M. Oliveira, Sofia A. |
author_role |
author |
author2 |
Rosa, Alexandra Francisco, Vânia Sousa, Inês Xavier, Joana M. Oliveira, Sofia A. |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
DigitUMa |
dc.contributor.author.fl_str_mv |
Abrantes, Patrícia Rosa, Alexandra Francisco, Vânia Sousa, Inês Xavier, Joana M. Oliveira, Sofia A. |
dc.subject.por.fl_str_mv |
Peripheral arterial disease Venous thromboembolism Mitochondrial genome Genetic association study . Faculdade de Ciências da Vida |
topic |
Peripheral arterial disease Venous thromboembolism Mitochondrial genome Genetic association study . Faculdade de Ciências da Vida |
description |
Background 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. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016 2016-01-01T00:00:00Z 2022-03-04T10:00:13Z |
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/10400.13/4113 |
url |
http://hdl.handle.net/10400.13/4113 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Abrantes, 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.2016.07.920 10.1016/j.atherosclerosis.2016.07.920 |
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 |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
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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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