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Vitamin D Receptor Polymorphisms in a Spanish Cohort of Parkinson's Disease Patients.
Canales-Cortés, Saray; Rodríguez-Arribas, Mario; Galindo, María F; Jordan, Joaquín; Casado-Naranjo, Ignacio; Fuentes, José M; Yakhine-Diop, Sokhna M S.
Afiliación
  • Canales-Cortés S; Departamento de Bioquímica y Biología Molecular y Genética, Facultad de Enfermería y Terapia Ocupacional, Universidad de Extremadura, Cáceres, Spain.
  • Rodríguez-Arribas M; Instituto Universitario de Investigación Biosanitaria de Extremadura (INUBE), Cáceres, Spain.
  • Galindo MF; Departamento de Bioquímica y Biología Molecular y Genética, Facultad de Enfermería y Terapia Ocupacional, Universidad de Extremadura, Cáceres, Spain.
  • Jordan J; Instituto Universitario de Investigación Biosanitaria de Extremadura (INUBE), Cáceres, Spain.
  • Casado-Naranjo I; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carloss III (CIBER-CIBERNED-ISCIII), Madrid, Spain.
  • Fuentes JM; Pharmaceutical Technologic, Medical Sciences Department, Albacete School of Pharmacy, University of Castilla-La Mancha, Albacete, Spain.
  • Yakhine-Diop SMS; Pharmacology, Medical Sciences Department, Albacete School of Medicine, University of Castilla-La Mancha, Albacete, Spain.
Genet Test Mol Biomarkers ; 28(2): 59-64, 2024 Feb.
Article en En | MEDLINE | ID: mdl-38416664
ABSTRACT

Background:

Vitamin D receptor (VDR) is a nuclear hormone receptor widely expressed in the substantia nigra. Its association with an increased risk of Parkinson's disease (PD) is based on vitamin D deficiency and/or different polymorphisms in its gene receptor. This fact has been demonstrated by several case-control studies. Materials and

Methods:

Consequently, we investigated the association between VDR ApaI, BsmI, FokI, and TaqI gene polymorphisms and PD in a Spanish cohort that included 54 cases and 17 healthy controls. The detection of single nucleotide polymorphisms (SNPs) was performed using a polymerase chain reaction-restriction fragment length polymorphism.

Results:

Our data indicate that the SNPs were not associated with the age of onset of PD, nor with the occurrence of motor symptoms. However, only BsmI polymorphism was significantly associated with PD in this Spanish cohort. In fact, BsmI genotype was five times higher among PD patients than among controls, and the A allele was considered as a genetic risk for PD. Additionally, the combination of FokI and BsmI polymorphisms was significantly associated with PD and could represent a risk factor.

Conclusion:

We conclude that ApaI, TaqI, and FokI polymorphisms were not associated with PD, but BsmI could be a risk factor for PD in this randomized population.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Receptores de Calcitriol / Imidoésteres Límite: Humans Idioma: En Revista: Genet Test Mol Biomarkers Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2024 Tipo del documento: Article País de afiliación: España Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Parkinson / Receptores de Calcitriol / Imidoésteres Límite: Humans Idioma: En Revista: Genet Test Mol Biomarkers Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2024 Tipo del documento: Article País de afiliación: España Pais de publicación: Estados Unidos