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Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor
Several reports suggested a role of heme oxygenase genes 1 and 2 (HMOX1 and HMOX2) in modifying the risk to develop Parkinson disease (PD). Because essential tremor (ET) and PD share phenotypical and, probably, etiologic factors of the similarities, we analyzed whether such genes are related with th...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4616553/ https://www.ncbi.nlm.nih.gov/pubmed/26091465 http://dx.doi.org/10.1097/MD.0000000000000968 |
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author | Ayuso, Pedro Agúndez, José A.G. Alonso-Navarro, Hortensia Martínez, Carmen Benito-León, Julián Ortega-Cubero, Sara Lorenzo-Betancor, Oswaldo Pastor, Pau López-Alburquerque, Tomás García-Martín, Elena Jiménez-Jiménez, Félix J. |
author_facet | Ayuso, Pedro Agúndez, José A.G. Alonso-Navarro, Hortensia Martínez, Carmen Benito-León, Julián Ortega-Cubero, Sara Lorenzo-Betancor, Oswaldo Pastor, Pau López-Alburquerque, Tomás García-Martín, Elena Jiménez-Jiménez, Félix J. |
author_sort | Ayuso, Pedro |
collection | PubMed |
description | Several reports suggested a role of heme oxygenase genes 1 and 2 (HMOX1 and HMOX2) in modifying the risk to develop Parkinson disease (PD). Because essential tremor (ET) and PD share phenotypical and, probably, etiologic factors of the similarities, we analyzed whether such genes are related with the risk to develop ET. We analyzed the distribution of allelic and genotype frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 single nucleotide polymorphisms, as well as the presence of copy number variations of these genes in 202 subjects with familial ET and 747 healthy controls. Allelic frequencies of rs2071746T and rs1051308G were significantly lower in ET patients than in controls. None of the studied polymorphisms influenced the disease onset. The present study suggests a weak association between HMOX1 rs2071746 and HMOX2 rs1051308 polymorphisms and the risk to develop ET in the Spanish population. |
format | Online Article Text |
id | pubmed-4616553 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
spelling | pubmed-46165532015-10-27 Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor Ayuso, Pedro Agúndez, José A.G. Alonso-Navarro, Hortensia Martínez, Carmen Benito-León, Julián Ortega-Cubero, Sara Lorenzo-Betancor, Oswaldo Pastor, Pau López-Alburquerque, Tomás García-Martín, Elena Jiménez-Jiménez, Félix J. Medicine (Baltimore) 3500 Several reports suggested a role of heme oxygenase genes 1 and 2 (HMOX1 and HMOX2) in modifying the risk to develop Parkinson disease (PD). Because essential tremor (ET) and PD share phenotypical and, probably, etiologic factors of the similarities, we analyzed whether such genes are related with the risk to develop ET. We analyzed the distribution of allelic and genotype frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 single nucleotide polymorphisms, as well as the presence of copy number variations of these genes in 202 subjects with familial ET and 747 healthy controls. Allelic frequencies of rs2071746T and rs1051308G were significantly lower in ET patients than in controls. None of the studied polymorphisms influenced the disease onset. The present study suggests a weak association between HMOX1 rs2071746 and HMOX2 rs1051308 polymorphisms and the risk to develop ET in the Spanish population. Wolters Kluwer Health 2015-06-19 /pmc/articles/PMC4616553/ /pubmed/26091465 http://dx.doi.org/10.1097/MD.0000000000000968 Text en Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0 |
spellingShingle | 3500 Ayuso, Pedro Agúndez, José A.G. Alonso-Navarro, Hortensia Martínez, Carmen Benito-León, Julián Ortega-Cubero, Sara Lorenzo-Betancor, Oswaldo Pastor, Pau López-Alburquerque, Tomás García-Martín, Elena Jiménez-Jiménez, Félix J. Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor |
title | Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor |
title_full | Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor |
title_fullStr | Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor |
title_full_unstemmed | Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor |
title_short | Heme Oxygenase 1 and 2 Common Genetic Variants and Risk for Essential Tremor |
title_sort | heme oxygenase 1 and 2 common genetic variants and risk for essential tremor |
topic | 3500 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4616553/ https://www.ncbi.nlm.nih.gov/pubmed/26091465 http://dx.doi.org/10.1097/MD.0000000000000968 |
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