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Vitamin D Receptor Polymorphisms in a Spanish Cohort of Parkinson's Disease Patients.

Saray Canales-CortésMario Rodríguez-ArribasMaría F GalindoJoaquín JordanIgnacio Casado-NaranjoJose Manuel FuentesSokhna M S Yakhine-Diop
Published in: Genetic testing and molecular biomarkers (2024)
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 Apa I, Bsm I, Fok I, and Taq I 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 Bsm I polymorphism was significantly associated with PD in this Spanish cohort. In fact, Bsm I 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 Fok I and Bsm I polymorphisms was significantly associated with PD and could represent a risk factor. Conclusion: We conclude that Apa I, Taq I, and Fok I polymorphisms were not associated with PD, but Bsm I could be a risk factor for PD in this randomized population.
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