Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson’s disease
| Autor: | Sibel Ertan, Güneş Kızıltan, Gençer Genç, Aysegul Gunduz, Erdinç Dursun, Merve Alaylıoğlu, Hasmet Hanagasi, Selma Yilmazer, Büşra Şengül, Başar Bilgiç, Hulya Apaydin, Duygu Gezen-Ak, Özgür Öztop Çakmak, Hakan Gurvit |
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| Přispěvatelé: | Yılmazer, Selma |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Genetics Parkinson's Disease Parkinson's disease General Neuroscience NADSYN1 Single-nucleotide polymorphism Locus (genetics) General Medicine Disease Biology medicine.disease vitamin D deficiency 03 medical and health sciences 030104 developmental biology 0302 clinical medicine DHCR7 Single Nucleotide Polymorphism medicine biology.protein Vitamin D and neurology Vitamin D Gene 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Neuroscience. 132:439-449 |
| ISSN: | 1543-5245 0020-7454 |
| DOI: | 10.1080/00207454.2020.1820502 |
| Popis: | Gurvit, Hakan/0000-0003-2908-8475; Bilgic, Basar/0000-0001-6032-0856; Ertan, Sibel/0000-0003-1339-243X; Genc, Gencer/0000-0002-8094-3062; KIZILTAN, GUNES/0000-0001-9284-198X; Gunduz, Aysegul/0000-0003-2365-0850 WOS:000570012300001 PubMed: 32938288 Purpose/aim of the study: Parkinson's disease (PD) is the second most common neurodegenerative disorder. Vitamin D deficiency is suggested to be related to PD. A genome-wide association study indicated that genes involved in vitamin D metabolism affect vitamin D levels. Among these genes, single nucleotide polymorphisms (SNPs) of the vitamin D receptor (VDR) and vitamin D binding protein (VDBP/GC) genes have also been demonstrated to be associated with PD risk. Our aim was to investigate the relevance of SNPs within the 7-dehydrocholesterol reductase/nicotinamide adenine dinucleotide synthetase 1 (DHCR7/NADSYN1) locus and vitamin D 25-hydroxylase (CYP2R1) gene, which encode important enzymes that play a role in the vitamin D synthesis pathway, with PD and its clinical features. Materials and methods: Genotypes of 382 PD patients and 240 cognitively healthy individuals were evaluated by a LightSNiP assay for a total of 10 SNPs within theDHCR7/NADSYN1locus andCYP2R1gene. Results: There were no significant differences in the allele and genotype distributions of any of the SNPs between any patient groups and healthy subjects. However, our results indicated that all of the SNPs within theDHCR7/NADSYN1locus andCYP2R1gene, except rs1993116, were associated with clinical motor features of PD including initial predominant symptom, freezing of gait (FoG) and falls as well as disease stage and duration of the disease. Conclusions: In conclusion, genetic variants of theDHCR7/NADSYN1locus and theCYP2R1gene might be related to the inefficient utilization of vitamin D independent from vitamin D levels, and it might result in differences in the clinical features of PD patients. Istanbul University-Cerrahpasa [21712, 27781] This work was supported by the Research Fund of Istanbul University-Cerrahpasa [Project Nos.: 21712 and 27781]. |
| Databáze: | OpenAIRE |
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