Abstract
BackgroundAccumulating data have suggested that vitamin D receptor (VDR) gene is a pretender gene for vulnerability to Parkinson disease (PD). This study aimed to assess the relationship of VDR gene polymorphisms (FokI and ApaI) with PD. Fifty patients suffering from PD and 50 age- and sex-matched healthy controls were included. Unified Parkinson Disease Rating Scale (UPDRS) was done to assess disease severity. Genetic testing for VDR gene single nucleotide polymorphisms (FokI and ApaI) was done using real time polymerase chain reaction (PCR) technique.ResultsConcerning frequency of genes and alleles for vitamin D receptor gene polymorphisms (FokI and ApaI), no statistically significant difference was found between PD patients and controls. AC genotype was associated with younger age and younger age at onset of disease compared to CC and AA genotypes of ApaI gene polymorphisms. CC genotype was significantly positively correlated with fatigue and urine incontinence. VDR gene polymorphisms were not found to be independent predictors for severity of PD after adjustment for possible confounders.ConclusionVDR gene polymorphisms are related to the clinical manifestations rather than etiology or severity of idiopathic PD.
Highlights
Accumulating data have suggested that vitamin D receptor (VDR) gene is a pretender gene for vulnerability to Parkinson disease (PD)
The present study aimed to study the relation between VDR gene polymorphisms (FokI and ApaI) and PD, and to examine their relation to clinical presentation and dis- values less than 0.05 were considered as statistically ease severity
Regarding VDR gene ApaI polymorphisms, CC genotype was significantly positively correlated with fatigue and urine incontinence (r = 0.32, P = 0.02)
Summary
Accumulating data have suggested that vitamin D receptor (VDR) gene is a pretender gene for vulnerability to Parkinson disease (PD). This study aimed to assess the relationship of VDR gene polymorphisms (FokI and ApaI) with PD. Genetic testing for VDR gene single nucleotide polymorphisms (FokI and ApaI) was done using real time polymerase chain reaction (PCR) technique. Genetic studies on vitamin D receptor (VDR) polymorphisms have proposed contribution of VDR to several neurodegenerative disorders, including multiple sclerosis, Alzheimer disease, and Parkinson disease (PD) [1]. More than 60 VDR polymorphisms have been discovered These polymorphisms are located in the Vitamin D functions are modulated by VDR. It is activated upon binding to the active form of vitamin D. It interacts with vitamin D response elements in the promoters of vitamin D target genes to regulate their expression. VDR is greatly expressed in dopaminergic neurons of the substantia nigra suggesting its role in the pathophysiology of PD [3]
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