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- W2897530250 abstract "Parkinson's disease (PD) is the second most common neurodegenerative disorder. Vitamin D deficiency is suggested to be associated with PD. In our previous study, our results indicated that there is a strong relationship between low serum vitamin D levels and PD. In that study, we also showed that genotypes of vitamin D receptor (VDR) which we previously provided the first evidence for Alzheimer's Disease as a genetic risk factor, and vitamin D binding protein (DBP/VDBP/GC) were associated with the clinical features of PD and PD risk. NADSYN1/DHCR7 gene encodes 7-dehydrocholesterol (7DHC) reductase which catalyzes 7DHC into cholesterol, substrate required for vitamin D synthesis. CYP2R1 gene, a member of the CYP2 family encoding cytochrome P450 proteins, encodes vitamin D 25-hydroxylase which hydroxylates vitamin D into 25-hydroxyvitamin D3. Genotypes of NADSYN1/DHCR7 and CYP2R1 genes are suggested to be associated with vitamin D deficiency. In the present study, we aimed to investigate any association of NADSYN1/DHCR7 and CYP2R1 genotypes with PD in point of clinical features. 292 sporadic PD patients who were clinically diagnosed according to UK PD Society Brain Bank criteria and 240 age-matched controls free from any neurodegenerative disorder were included in this study. Assessment of clinical features of the disease was based on 5 clinical domains including: initial predominant symptoms, the duration of PD, disease stage, freezing of gait and the falls. DNA was isolated from peripheral blood samples and genotypes of rs4944957, rs3794060, rs7944926, rs12800438, rs12785878 SNPs within NADSYN1/DHCR7 gene and rs2060793, rs12794714, rs1993116, rs10741657, rs10500804 SNPs within CYP2R1 gene were determined by RT-PCR method. There were no significant differences in allele and genotype distributions of any SNPs with NADSYN1/DHCR7 and CYP2R1 genes between patients and controls. Our preliminary results showed that genotypes of rs4944957, rs3794060, rs7944926, rs12800438, rs12785878 SNPs within NADSYN1/DHCR7 gene are associated with PD duration, disease stage and freezing of gait. This is the first study that investigates the relevance between NADSYN1/DHCR7 and CYP2R1 genotypes and PD and its clinical features and demonstrates NADSYN1/DHCR7 gene as a risk factor for PD. (The present work was supported by the Research Fund of Istanbul University, Project no:28651, 21712)." @default.
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- W2897530250 date "2018-07-01" @default.
- W2897530250 modified "2023-10-18" @default.
- W2897530250 title "P3‐109: ASSOCIATION BETWEEN NADSYN1/DHCR7 AND CYP2R1 GENOTYPES AND PARKINSON'S DISEASE AND ITS CLINICAL FEATURES" @default.
- W2897530250 doi "https://doi.org/10.1016/j.jalz.2018.06.1466" @default.
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