Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/45025
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dc.contributor.authorSandoval-Garcia, F.
dc.contributor.authorPetri, M.H.
dc.contributor.authorSaavedra, M.A.
dc.contributor.authorCruz-Reyes, C.V.
dc.contributor.authorJara-Quezada, L.J.
dc.contributor.authorDavalos-Rodriguez, I.P.
dc.contributor.authorSalazar-Paramo, M.
dc.contributor.authorGamez-Nava, J.I.
dc.contributor.authorGonzalez-Lopez, L.
dc.contributor.authorGarcia-Iglesias, T.
dc.contributor.authorCorona-Sanchez, E.G.
dc.contributor.authorZavaleta-Muniz, S.
dc.contributor.authorVargas-Ramirez, R.
dc.contributor.authorMercado, M.V.-D.
dc.contributor.authorMartin-Marquez, B.T.
dc.date.accessioned2015-09-15T19:05:37Z-
dc.date.available2015-09-15T19:05:37Z-
dc.date.issued2012
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-84867262246&partnerID=40&md5=fbb7679f73a4ce098d9725446b380219
dc.identifier.urihttp://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=medl&AN=22639897
dc.identifier.urihttp://hdl.handle.net/20.500.12104/45025-
dc.description.abstractBackground: The ACTN3 gene encodes the fast muscle protein a-actinin-3. The ACTN3 R577X polymorphism is a premature stop codon and results in absence of a-actinin-3 in 577XX homozygotes. The aim of this study was to determine the ACTN3 genotype in idiopathic inflammatory myopathies (IIMs). Methods: We performed ACTN3 genotyping on 27 patients with dermatomyositis (DM), 10 with polymyositis (PM), and 85 healthy subjects. Muscle enzyme levels of creatine phosphokinase (CPK), lactic dehydrogenase (LDH), aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were recorded at the time of diagnosis and recruitment. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the allele frequency was analysed. Results: A total of 36% of healthy subjects had the ACTN3 577XX polymorphism (a-actinin-3 deficiency), 18% had the 577RR (homozygous wild type) genotype, and 46% 577RX (heterozygous). In DM/PM, 70% had the ACTN3 577XX polymorphism, 6% RR, and 24% RX [odds ratio (OR) 4.12, 95% confidence interval (CI) 1.67-10.33, p < 0.001]. In healthy subjects, the R allele was present in 41% and the X allele in 59% compared to 18% and 82%, respectively, in the IIM group (OR 3.21, 95% CI 1.57-6.66, p < 0.001). Thus, the ACTN3 577X allele seemed to increase the risk of developing IIM, and DM in particular, although this was not related to severity of expression of the phenotype. Conclusions: The ACTN3 577X allele appeared to increase the risk of developing IIM; 70% of IIM patients were deficient in a-actinin-3. By contrast, ACTN3 577XX patients seemed to have less severe disease as reflected in lower muscle enzyme levels. � 2012 Taylor & Francis on license from Scandinavian Rheumatology Research Foundation.
dc.relation.isreferencedbyScopus
dc.relation.isreferencedbyWOS
dc.relation.isreferencedbyMEDLINE
dc.titleThe ACTN3 R577X polymorphism is associated with inflammatory myopathies in a Mexican population
dc.typeArticle
dc.identifier.doi10.3109/03009742.2012.669495
dc.relation.ispartofjournalScandinavian Journal of Rheumatology
dc.relation.ispartofvolume41
dc.relation.ispartofissue5
dc.relation.ispartofpage396
dc.relation.ispartofpage400
dc.contributor.affiliationSandoval-Garc�a, F., Research Institute of Rheumatology and the Musculoskeletal System, Centre for Health Sciences, University of Guadalajara, Guadalajara, Jalisco, Mexico; Petri, M.H., Research Institute of Rheumatology and the Musculoskeletal System, Centre for Health Sciences, University of Guadalajara, Guadalajara, Jalisco, Mexico; Saavedra, M.A., Medical Centre 'La Raza' Mexican Social Security, Institute (IMSS), Mexico City, Mexico; Cruz-Reyes, C.V., Medical Centre 'La Raza' Mexican Social Security, Institute (IMSS), Mexico City, Mexico; Jara-Quezada, L.J., Medical Centre 'La Raza' Mexican Social Security, Institute (IMSS), Mexico City, Mexico; D�valos-Rodr�guez, I.P., Department of Molecular Biology and Genomics, Institute of Human Genetics, University Centre of Health Sciences, Mexico, CIBO, Western Medical Centre, IMSS, Mexico; Salazar-P�ramo, M., Hospital of CMNO, IMSS and Department of Physiology, University of Guadalajara, Mexico; G�mez-Nava, J.I., Clinical Epidemilogy Research Unit; UMAE, West National Medical Centre, IMSS, Mexico; Gonz�lez-L�pez, L., Department of Internal Medicine-Rheumathology, Regional General Hospital 110, IMSS, Mexico; Garc�a-Iglesias, T., Immunology Laboratory, Centre of Health Sciences, University of Guadalajara, Mexico; Corona-S�nchez, E.G., Research Institute of Rheumatology and the Musculoskeletal System, Centre for Health Sciences, University of Guadalajara, Guadalajara, Jalisco, Mexico; Zavaleta-Mu�iz, S., Research Institute of Rheumatology and the Musculoskeletal System, Centre for Health Sciences, University of Guadalajara, Guadalajara, Jalisco, Mexico; Vargas-Ram�rez, R., Research Institute of Rheumatology and the Musculoskeletal System, Centre for Health Sciences, University of Guadalajara, Guadalajara, Jalisco, Mexico; Mercado, M.V.-D., Research Institute of Rheumatology and the Musculoskeletal System, Centre for Health Sciences, University of Guadalajara, Guadalajara, Jalisco, Mexico, Department of Rheumatology, Hospital Civil 'Dr John I. Menchaca', University of Guadalajara, Guadalajara, Jalisco, Mexico; Mart�n-Marquez, B.T., Research Institute of Rheumatology and the Musculoskeletal System, Centre for Health Sciences, University of Guadalajara, Guadalajara, Jalisco, Mexico
dc.subject.headingIndex Medicus;Actinin/ge [Genetics];Adult;Alleles;Female;Gene Frequency;Genetic Predisposition to Disease;Genotype;Humans;Male;Mexico;Middle Aged;Myositis/ge [Genetics];Phenotype;Polymorphism, Single Nucleotide;Severity of Illness Index
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