Cargando…
Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome
Because nitric oxide and endothelial dysfunction could play a role in the pathogenesis of idiopathic restless legs syndrome (RLS), as was suggested by some preliminary data, we investigated the possible association between the rs2070744 variants in the endothelial nitric oxide synthase (eNOS or NOS3...
Autores principales: | , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7959806/ https://www.ncbi.nlm.nih.gov/pubmed/33732155 http://dx.doi.org/10.3389/fphar.2021.618989 |
_version_ | 1783665031038107648 |
---|---|
author | Jiménez-Jiménez, Félix Javier Agúndez, Blanca G. Gómez-Tabales, Javier Alonso-Navarro, Hortensia Turpín-Fenoll, Laura Millán-Pascual, Jorge Díez-Fairén, Mónica Álvarez, Ignacio Pastor, Pau Calleja, Marisol García-Ruiz, Rafael Navarro-Muñoz, Santiago Recio-Bermejo, Marta Plaza-Nieto, José Francisco García-Albea, Esteban García-Martín, Elena Agúndez, José A. G. |
author_facet | Jiménez-Jiménez, Félix Javier Agúndez, Blanca G. Gómez-Tabales, Javier Alonso-Navarro, Hortensia Turpín-Fenoll, Laura Millán-Pascual, Jorge Díez-Fairén, Mónica Álvarez, Ignacio Pastor, Pau Calleja, Marisol García-Ruiz, Rafael Navarro-Muñoz, Santiago Recio-Bermejo, Marta Plaza-Nieto, José Francisco García-Albea, Esteban García-Martín, Elena Agúndez, José A. G. |
author_sort | Jiménez-Jiménez, Félix Javier |
collection | PubMed |
description | Because nitric oxide and endothelial dysfunction could play a role in the pathogenesis of idiopathic restless legs syndrome (RLS), as was suggested by some preliminary data, we investigated the possible association between the rs2070744 variants in the endothelial nitric oxide synthase (eNOS or NOS3) gene (chromosome 7q36.1) and the risk for RLS in a Caucasian Spanish population. We assessed the frequencies of NOS3 single nucleotide polymorphisms (SNPs) rs2070744, rs1799983, and rs79467411 genotypes and allelic variants in 273 patients with idiopathic RLS and 325 healthy controls using a TaqMan-based qPCR assay. We also analyzed the possible influence of genotype frequency on age at onset of RLS symptoms, gender, family history of RLS, and response to drugs commonly used in the treatment of RLS such as dopaminergic drugs, clonazepam, and GABAergic drugs. The frequencies of genotypes and allelic variants were not associated with the risk for RLS and were not influenced by gender, age, and positive family history of RLS. We identified weak statistical associations of the SNP rs1799983 with the response to dopamine agonists (Pc = 0.018 for the rs1799983 G/T genotype) and of the SNP rs79467411 with the response to clonazepam (Pc = 0.018 for the rs79467411 G allele), although these findings should be cautiously interpreted and require further confirmation. These associations aside, our findings suggest that common NOS3 SNPs are not associated with the risk for idiopathic RLS in Caucasian Spanish people. |
format | Online Article Text |
id | pubmed-7959806 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-79598062021-03-16 Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome Jiménez-Jiménez, Félix Javier Agúndez, Blanca G. Gómez-Tabales, Javier Alonso-Navarro, Hortensia Turpín-Fenoll, Laura Millán-Pascual, Jorge Díez-Fairén, Mónica Álvarez, Ignacio Pastor, Pau Calleja, Marisol García-Ruiz, Rafael Navarro-Muñoz, Santiago Recio-Bermejo, Marta Plaza-Nieto, José Francisco García-Albea, Esteban García-Martín, Elena Agúndez, José A. G. Front Pharmacol Pharmacology Because nitric oxide and endothelial dysfunction could play a role in the pathogenesis of idiopathic restless legs syndrome (RLS), as was suggested by some preliminary data, we investigated the possible association between the rs2070744 variants in the endothelial nitric oxide synthase (eNOS or NOS3) gene (chromosome 7q36.1) and the risk for RLS in a Caucasian Spanish population. We assessed the frequencies of NOS3 single nucleotide polymorphisms (SNPs) rs2070744, rs1799983, and rs79467411 genotypes and allelic variants in 273 patients with idiopathic RLS and 325 healthy controls using a TaqMan-based qPCR assay. We also analyzed the possible influence of genotype frequency on age at onset of RLS symptoms, gender, family history of RLS, and response to drugs commonly used in the treatment of RLS such as dopaminergic drugs, clonazepam, and GABAergic drugs. The frequencies of genotypes and allelic variants were not associated with the risk for RLS and were not influenced by gender, age, and positive family history of RLS. We identified weak statistical associations of the SNP rs1799983 with the response to dopamine agonists (Pc = 0.018 for the rs1799983 G/T genotype) and of the SNP rs79467411 with the response to clonazepam (Pc = 0.018 for the rs79467411 G allele), although these findings should be cautiously interpreted and require further confirmation. These associations aside, our findings suggest that common NOS3 SNPs are not associated with the risk for idiopathic RLS in Caucasian Spanish people. Frontiers Media S.A. 2021-02-25 /pmc/articles/PMC7959806/ /pubmed/33732155 http://dx.doi.org/10.3389/fphar.2021.618989 Text en Copyright © 2021 Jiménez-Jiménez, Agúndez, Gómez-Tabales, Alonso-Navarro, Turpín-Fenoll, Millán-Pascual, Díez-Fairén, Álvarez, Pastor, Calleja, García-Ruiz, Navarro-Muñoz, Recio-Bermejo, Plaza-Nieto, García-Albea, García-Martín and Agúndez. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pharmacology Jiménez-Jiménez, Félix Javier Agúndez, Blanca G. Gómez-Tabales, Javier Alonso-Navarro, Hortensia Turpín-Fenoll, Laura Millán-Pascual, Jorge Díez-Fairén, Mónica Álvarez, Ignacio Pastor, Pau Calleja, Marisol García-Ruiz, Rafael Navarro-Muñoz, Santiago Recio-Bermejo, Marta Plaza-Nieto, José Francisco García-Albea, Esteban García-Martín, Elena Agúndez, José A. G. Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome |
title | Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome |
title_full | Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome |
title_fullStr | Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome |
title_full_unstemmed | Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome |
title_short | Common Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphisms are not Related With the Risk for Restless Legs Syndrome |
title_sort | common endothelial nitric oxide synthase single nucleotide polymorphisms are not related with the risk for restless legs syndrome |
topic | Pharmacology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7959806/ https://www.ncbi.nlm.nih.gov/pubmed/33732155 http://dx.doi.org/10.3389/fphar.2021.618989 |
work_keys_str_mv | AT jimenezjimenezfelixjavier commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT agundezblancag commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT gomeztabalesjavier commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT alonsonavarrohortensia commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT turpinfenolllaura commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT millanpascualjorge commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT diezfairenmonica commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT alvarezignacio commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT pastorpau commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT callejamarisol commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT garciaruizrafael commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT navarromunozsantiago commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT reciobermejomarta commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT plazanietojosefrancisco commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT garciaalbeaesteban commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT garciamartinelena commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome AT agundezjoseag commonendothelialnitricoxidesynthasesinglenucleotidepolymorphismsarenotrelatedwiththeriskforrestlesslegssyndrome |