For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
19
views
31
references
 Top references
cited by
12
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      682
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome

      research-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Several neurochemical, neuropathological, neuroimaging, and experimental data, suggest that iron deficiency plays an important role in the pathophysiology of restless legs syndrome (RLS). Heme-oxygenases (HMOX) are an important defensive mechanism against oxidative stress, mainly through the degradation of heme to biliverdin, free iron, and carbon monoxide. We analyzed whether HMOX1 and HMOX2 genes are related with the risk to develop RLS.

          We analyzed the distribution of genotypes and allelic frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 SNPs, as well as the presence of Copy number variations (CNVs) of these genes in 205 subjects RLS and 445 healthy controls.

          The frequencies of rs2071746TT genotype and rs2071746T allelic variant were significantly lower in RLS patients than that in controls, although the other 3 studied SNPs did not differ between RLS patients and controls. None of the studied polymorphisms influenced the disease onset, severity of RLS, family history of RLS, serum ferritin levels, or response to dopaminergic agonist, clonazepam or GABAergic drugs.

          The present study suggests a weak association between HMOX1 rs2071746 polymorphism and the risk to develop RLS in the Spanish population.

          Related collections

          Most cited references31

          • Record: found
          • Abstract: found
          • Article: not found

          Restless legs syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the restless legs syndrome diagnosis and epidemiology workshop at the National Institutes of Health.

          Richard Allen, Daniel Picchietti, Wayne Hening … (2003)
          Restless legs syndrome is a common yet frequently undiagnosed sensorimotor disorder. In 1995, the International Restless Legs Syndrome Study Group developed standardized criteria for the diagnosis of restless legs syndrome. Since that time, additional scientific scrutiny and clinical experience have led to a better understanding of the condition. Modification of the criteria is now necessary to better reflect that increased body of knowledge, as well as to clarify slight confusion with the wording of the original criteria. The restless legs syndrome diagnostic criteria and epidemiology workshop at the National Institutes of Health. Members of the International Restless Legs Syndrome Study Group and authorities on epidemiology and the design of questionnaires and scales. To modify the current criteria for the diagnosis of restless legs syndrome, to develop new criteria for the diagnosis of restless legs syndrome in the cognitively impaired elderly and in children, to create standardized criteria for the identification of augmentation, and to establish consistent questions for use in epidemiology studies. The essential diagnostic criteria for restless legs syndrome were developed and approved by workshop participants and the executive committee of the International Restless Legs Syndrome Study Group. Criteria were also developed and approved for the additional aforementioned groups.
          Article 0 comments Cited 307 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome.

            (2003)
            There is a need for an easily administered instrument which can be applied to all patients with restless legs syndrome (RLS) to measure disease severity for clinical assessment, research, or therapeutic trials. The pathophysiology of RLS is not clear and no objective measure so far devised can apply to all patients or accurately reflect severity. Moreover, RLS is primarily a subjective disorder. Therefore, a subjective scale is at present the optimal instrument to meet this need. Twenty centers from six countries participated in an initial reliability and validation study of a rating scale for the severity of RLS designed by the International RLS study group (IRLSSG). A ten-question scale was developed on the basis of repeated expert evaluation of potential items. This scale, the IRLSSG rating scale (IRLS), was administered to 196 RLS patients, most on some medication, and 209 control subjects. The IRLS was found to have high levels of internal consistency, inter-examiner reliability, test-retest reliability over a 2-4 week period, and convergent validity. It also demonstrated criterion validity when tested against the current criterion of a clinical global impression and readily discriminated patient from control groups. The scale was dominated by a single severity factor that explained at least 59% of the pooled item variance. This scale meets performance criteria for a brief, patient completed instrument that can be used to assess RLS severity for purposes of clinical assessment, research, or therapeutic trials. It supports a finding that RLS is a relatively uniform disorder in which the severity of the basic symptoms is strongly related to their impact on the patient's life. In future studies, the IRLS should be tested against objective measures of RLS severity and its sensitivity should be studied as RLS severity is systematically manipulated by therapeutic interventions.
            Article 0 comments Cited 285 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: not found
              • Article: not found

              Diagnostic tests 2: Predictive values.

              D Altman, J Bland (1994)
              Article 0 comments Cited 221 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Medicine (Baltimore)
                Journal ID (iso-abbrev): Medicine (Baltimore)
                Journal ID (publisher-id): MEDI
                Title: Medicine
                Publisher: Wolters Kluwer Health
                ISSN (Print): 0025-7974
                ISSN (Electronic): 1536-5964
                Publication date Collection: August 2015
                Publication date (Electronic): 28 August 2015
                Volume: 94
                Issue: 34
                Electronic Location Identifier: e1448
                Affiliations
                From the Department of Pharmacology, Universidad de Extremadura, Cáceres, Spain (EG-M, JAGA); Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey (Madrid), Spain (FJJ-J, HA-N, FN, MC, JFPN, BP-D-LF, MA-S); Department of Medicine-Neurology, Hospital “Príncipe de Asturias”. Universidad de Alcalá, Alcalá de Henares (Madrid), Spain (FJJ-J, HA-N, AR-S, LR, EG-A); Department of Pharmacology, University of Extremadura, Badajoz, Spain (CM); Section of Neurology, Hospital Virgen del Puerto, Plasencia (Cáceres), Spain (MZ); Section of Neurology, Hospital La Mancha-Centro, Alcázar de San Juan (Ciudad Real), Spain (LT-F, JM-P); Unit of Neurology, Clínica Recoletas, Zamora, Spain (TA-B); Section of Neurology, Hospital Universitario de Burgos, Burgos, Spain (EC); CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain (SO-C, PP); Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra, Pamplona, Spain (SO-C, PP); Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain (PP); and Department of Neurology, Hospital Universitari Mutua de Terrassa, Terrassa, Barcelona, Spain (PP).
                Author notes
                Correspondence: Félix Javier Jiménez-Jiménez, C/Marroquina 14, 3 B, E-28030 Madrid (e-mail: fjavier.jimenezsalud.madrid.org; felix.jimenez@ 123456sen.es ).
                Article
                Accession ID: 01448
                DOI: 10.1097/MD.0000000000001448
                PMC ID: 4602895
                PubMed ID: 26313808
                SO-VID: dc61bbfb-ca61-481c-bed9-065593d5c6e1
                Copyright © Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.
                License:

                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

                History
                Date received : 10 June 2015
                Date revision received : 24 July 2015
                Date accepted : 30 July 2015
                Categories
                Subject: 5300
                Subject: Research Article
                Subject: Observational Study
                Custom metadata
                OPEN-ACCESS TRUE

                Data availability:

                Comments

                Comment on this article

                scite_

                Similar content682

                See all similar

                Cited by12

                See all cited by

                Most referenced authors408

                See all reference authors