Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2015
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
_version_ 1782396660182155264
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
work_keys_str_mv AT ayusopedro hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT agundezjoseag hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT alonsonavarrohortensia hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT martinezcarmen hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT benitoleonjulian hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT ortegacuberosara hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT lorenzobetancoroswaldo hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT pastorpau hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT lopezalburquerquetomas hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT garciamartinelena hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor
AT jimenezjimenezfelixj hemeoxygenase1and2commongeneticvariantsandriskforessentialtremor