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The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Tell-Marti, Gemma; Puig-Butille, Joan Anton; Potrony, Miriam; Badenas, Celia; Milà, Montserrat; Malvehy, Josep; Martí, María José; Ezquerra, Mario; Fernández-Santiago, Rubén; Puig, Susana.
Afiliação
  • Tell-Marti G; Dermatology, Department, Melanoma Unit, Hospital Clínic and August Pi i Sunyer Biomedical Research Institute (IDIBAPS); Center for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute (ISCIII).
Ann Neurol ; 77(5): 889-94, 2015 May.
Article em En | MEDLINE | ID: mdl-25631192
ABSTRACT
Epidemiological studies have reported the co-occurrence of Parkinson disease (PD) and melanoma. Common genetic variants in the MC1R (melanocortin 1 receptor) gene, which determines skin and hair color, are associated with melanoma. Here we investigated whether genetic variants in MC1R modulate the risk of PD by sequencing the entire gene in 870 PD patients and 736 controls ascertained from Spain. We found that the MC1R variant p.R160W (rs1805008) is marginally associated with PD (odds ratio = 2.10, gender- and age-adjusted p = 0.009, Bonferroni-corrected p = 0.063). Our results suggest that MC1R genetic variants modulate the risk of PD disease in the Spanish population.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Variação Genética / Predisposição Genética para Doença / Receptor Tipo 1 de Melanocortina / Melanoma Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Ann Neurol Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Parkinson / Variação Genética / Predisposição Genética para Doença / Receptor Tipo 1 de Melanocortina / Melanoma Tipo de estudo: Diagnostic_studies / Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Ann Neurol Ano de publicação: 2015 Tipo de documento: Article