A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor |
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| Authors: | Félix Javier Jiménez-Jiménez Elena García-Martín Hortensia Alonso-Navarro Oswaldo Lorenzo-Betancor Sara Ortega-Cubero Pau Pastor |
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| Affiliation: | 1. Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Spain;2. Department of Medicine-Neurology, Hospital “Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares, Spainfjavier.jimenez@salud.madrid.org felix.jimenez@sen.es;4. Department of Pharmacology, Universidad de Extremadura, Cáceres, Spain;5. Department of Medicine-Neurology, Hospital “Príncipe de Asturias”, Universidad de Alcalá, Alcalá de Henares, Spain;6. Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra, Pamplona, Spain;7. Department of Neurology, Complejo Asistencial Universitario de Palencia, Palencia, Spain;8. CIBERNED,Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain;9. Movement Disorders Unit, Deparment of of Neurology, Hospital Mutua de Terrassa, Terrassa, Spain |
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| Abstract: | Background/Objective: Despite many data suggesting a role of genetic factors in the risk for essential tremor (ET), the responsible genes have not been identified. We analyzed in ET Spanish families three single nucleotide polymorphisms (SNPs): DRD3 rs6280, SLC1A2 rs3794087, and MAPT rs1052553) previously related to an increased risk for developing the disease.Methods: We recruited 45 subjects with ET and 13 subjects without tremor belonging to 11 families who were evaluated because of familial tremor. Diagnosis of probable or definite ET was done according to TRIG criteria. Genotyping of the 3 SNPs was done using TaqMan-based qPCR assays. Data were compared with those of healthy controls of our laboratory. Family-based association testing for disease traits was performed as well.Results: rs6280 and rs3794087 genotype and allelic frequencies did not differ significantly between subjects with ET and healthy controls. However, rs1052553AA genotype and the allele rs1052553A allele were significantly more frequent among ET patients. rs1052553A allele was non-significantly overrepresented in ET patients compared with controls when considering only the more severely affected member of each ET family. Family-based association test for disease traits showed lack of association between ET and the three SNPs studied.Conclusions: Our results showed a lack of association between rs6280 and rs3794087 with the risk for ET, though a marginal increased risk for ET was observed among the rs1052553A allele carriers, which was not confirmed with a family-based association study. |
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| Keywords: | Essential tremor Genetics DRD3 gene SLC1A2 gene MAPT gene Polymorphisms Risk factors |
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