350
Views
4
CrossRef citations to date
0
Altmetric
Original Articles

Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson’s disease

, , , , , , , , , , , , & show all
Pages 439-449 | Received 12 Apr 2020, Accepted 30 Aug 2020, Published online: 16 Sep 2020

References

  • Sveinbjornsdottir S. The clinical symptoms of Parkinson's disease. J Neurochem. 2016;139(Suppl. 1):318–324.
  • Warner TT, Schapira AH. Genetic and environmental factors in the cause of Parkinson's disease. Ann Neurol. 2003;53(Suppl 3):S16–S25.
  • Knekt P, Kilkkinen A, Rissanen H, et al. Serum vitamin D and the risk of Parkinson disease. Arch Neurol. 2010;67(7):808–811.
  • Newmark HL, Newmark J. Vitamin D and Parkinson's disease – a hypothesis. Mov Disord. 2007;22(4):461–468.
  • Kalueff AV, Tuohimaa P. Neurosteroid hormone vitamin D and its utility in clinical nutrition. Curr Opin Clin Nutr Metab Care. 2007;10(1):12–19.
  • DeLuca GC, Kimball SM, Kolasinski J, et al. Review: the role of vitamin D in nervous system health and disease. Neuropathol Appl Neurobiol. 2013;39(5):458–484.
  • Garcion E, Wion-Barbot N, Montero-Menei CN, et al. New clues about vitamin D functions in the nervous system. Trends Endocrinol Metab. 2002;13(3):100–105.
  • Gezen-Ak D, Yılmazer S, Dursun E. Why vitamin D in Alzheimer's disease? The hypothesis. J Alzheimers Dis. 2014;40(2):257–269.
  • Bivona G, Agnello L, Bellia C, et al. Non-skeletal activities of vitamin D: from physiology to brain pathology. Medicina (Kaunas). 2019;55(7):341.
  • Annweiler C, Schott A-M, Berrut G, et al. Vitamin D and ageing: neurological issues. Neuropsychobiology. 2010;62(3):139–150.
  • Dursun E, Gezen-Ak D. Vitamin D basis of Alzheimer's disease: from genetics to biomarkers. Hormones (Athens). 2019;18(1):7–15.
  • Gezen-Ak D, Dursun E. Molecular basis of vitamin D action in neurodegeneration: the story of a team perspective. Hormones (Athens). 2019;18(1):17–21.
  • Bivona G, Agnello L, Pivetti A, et al. Association between hypovitaminosis D and systemic sclerosis: true or fake? Clin Chim Acta. 2016;458:115–119.
  • Koduah P, Paul F, Dorr JM. Vitamin D in the prevention, prediction and treatment of neurodegenerative and neuroinflammatory diseases. EPMA J. 2017;8(4):313–325.
  • Bivona G, Lo Sasso B, Iacolino G, et al. Standardized measurement of circulating vitamin D [25(OH)D] and its putative role as a serum biomarker in Alzheimer's disease and Parkinson's disease. Clin Chim Acta. 2019;497:82–87.
  • Evatt ML, Delong MR, Khazai N, et al. Prevalence of vitamin d insufficiency in patients with Parkinson disease and Alzheimer disease. Arch Neurol. 2008;65(10):1348–1352.
  • Sato Y, Kikuyama M, Oizumi K. High prevalence of vitamin D deficiency and reduced bone mass in Parkinson's disease. Neurology. 1997;49(5):1273–1278.
  • Sato Y, Honda Y, Iwamoto J, et al. Abnormal bone and calcium metabolism in immobilized Parkinson's disease patients. Mov Disord. 2005;20(12):1598–1603.
  • Gezen-Ak D, Alaylıoğlu M, Genç G, et al. GC and VDR SNPs and vitamin D levels in Parkinson's disease: the relevance to clinical features. Neuromol Med. 2017;19(1):24–40.
  • van den Bos F, Speelman AD, van Nimwegen M, et al. Bone mineral density and vitamin D status in Parkinson's disease patients. J Neurol. 2013;260(3):754–760.
  • McGrath JJ, Saha S, Burne THJ, et al. A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations. J Steroid Biochem Mol Biol. 2010;121(1–2):471–477.
  • Dastani Z, Li R, Richards B. Genetic regulation of vitamin D levels. Calcif Tissue Int. 2013;92(2):106–117.
  • Ahn J, Yu K, Stolzenberg-Solomon R, et al. Genome-wide association study of circulating vitamin D levels. Hum Mol Genet. 2010;19(13):2739–2745.
  • Barry EL, Rees JR, Peacock JL, et al. Genetic variants in CYP2R1, CYP24A1, and VDR modify the efficacy of vitamin D3 supplementation for increasing serum 25-hydroxyvitamin D levels in a randomized controlled trial. J Clin Endocrinol Metab. 2014;99(10):E2133–E2137.
  • Butler MW, Burt A, Edwards TL, et al. Vitamin D receptor gene as a candidate gene for Parkinson disease. Ann Hum Genet. 2011;75(2):201–210.
  • Gatto NM, Sinsheimer JS, Cockburn M, et al. Vitamin D receptor gene polymorphisms and Parkinson's disease in a population with high ultraviolet radiation exposure. J Neurol Sci. 2015;352(1–2):88–93.
  • Han X, Xue L, Li Y, et al. Vitamin D receptor gene polymorphism and its association with Parkinson's disease in Chinese Han population. Neurosci Lett. 2012;525(1):29–33.
  • Kim J-S, Kim Y-I, Song C, et al. Association of vitamin D receptor gene polymorphism and Parkinson's disease in Koreans. J Korean Med Sci. 2005;20(3):495–498.
  • Suzuki M, Yoshioka M, Hashimoto M, et al. 25-Hydroxyvitamin D, vitamin D receptor gene polymorphisms, and severity of Parkinson's disease. Mov Disord. 2012;27(2):264–271.
  • Torok R, Torok N, Szalardy L, et al. Association of vitamin D receptor gene polymorphisms and Parkinson's disease in Hungarians. Neurosci Lett. 2013;551:70–74.
  • Prabhu AV, Luu W, Li D, et al. DHCR7: a vital enzyme switch between cholesterol and vitamin D production. Prog Lipid Res. 2016;64:138–151.
  • Hara N, Yamada K, Terashima M, et al. Molecular identification of human glutamine- and ammonia-dependent NAD synthetases. Carbon–nitrogen hydrolase domain confers glutamine dependency. J Biol Chem. 2003;278(13):10914–10921.
  • Gezen-Ak D, Alaylıoğlu M, Genç G, et al. Altered transcriptional profile of mitochondrial DNA-encoded OXPHOS subunits, mitochondria quality control genes, and intracellular ATP levels in blood samples of patients with Parkinson's disease. JAD. 2020;74(1):287–307.
  • Christakos S, Dhawan P, Verstuyf A, et al. Vitamin D: metabolism, molecular mechanism of action, and pleiotropic effects. Physiol Rev. 2016;96(1):365–408.
  • Wang TJ, Zhang F, Richards JB, et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010;376(9736):180–188.
  • Hoehn MM, Yahr MD. Parkinsonism: onset, progression and mortality. Neurology. 1967;17(5):427–442.
  • Alaylioglu M, Gezen-Ak D, Dursun E, et al. The association between clusterin and APOE polymorphisms and late-onset Alzheimer disease in a Turkish cohort. J Geriatr Psychiatry Neurol. 2016; 29(4) :221–226.
  • Dursun E, Alaylıoğlu M, Bilgiç B, et al. Vitamin D deficiency might pose a greater risk for ApoEɛ4 non-carrier Alzheimer's disease patients . Neurol Sci. 2016;37(10):1633–1643.
  • Yarwood A, Martin P, Bowes J, et al. Enrichment of vitamin D response elements in RA-associated loci supports a role for vitamin D in the pathogenesis of RA. Genes Immun. 2013;14(5):325–329.
  • Agnello L, Scazzone C, Lo Sasso B, et al. CYP27A1, CYP24A1, and RXR-α polymorphisms, vitamin D, and multiple sclerosis: a pilot study. J Mol Neurosci. 2018;66(1):77–84.
  • Scazzone C, Agnello L, Ragonese P, et al. Association of CYP2R1 rs10766197 with MS risk and disease progression. J Neurosci Res. 2018;96(2):297–304.
  • Gezen-Ak D, Dursun E, Bilgiç B, et al. Vitamin D receptor gene haplotype is associated with late-onset Alzheimer's disease. Tohoku J Exp Med. 2012;228(3):189–196.
  • Hossein-Nezhad A, Holick MF. Vitamin D for health: a global perspective. Mayo Clin Proc. 2013;88(7):720–755.
  • Schuster I. Cytochromes P450 are essential players in the vitamin D signaling system. Biochim Biophys Acta. 2011;1814(1):186–199.
  • Larsson SC, Singleton AB, Nalls MA, et al. No clear support for a role for vitamin D in Parkinson's disease: A Mendelian randomization study. Mov Disord. 2017;32(8):1249–1252.
  • Jankovic J. Parkinson's disease: clinical features and diagnosis. J Neurol Neurosurg Psychiatry. 2008;79(4):368–376.
  • Poewe W, Seppi K, Tanner CM, et al. Parkinson disease. Nat Rev Dis Primers. 2017;3:17013.
  • Marjama-Lyons J, Koller W. Tremor-predominant Parkinson's disease. Approaches to treatment. Drugs Aging. 2000;16(4):273–278.
  • Bloem BR, Hausdorff JM, Visser JE, et al. Falls and freezing of gait in Parkinson's disease: a review of two interconnected, episodic phenomena. Mov Disord. 2004;19(8):871–884.
  • LeWitt PA, Fahn S. Levodopa therapy for Parkinson disease: a look backward and forward. Neurology. 2016; 86(14 Suppl 1):S3–S12.
  • Tomlinson CL, Stowe R, Patel S, et al. Systematic review of levodopa dose equivalency reporting in Parkinson's disease. Mov Disord. 2010;25(15):2649–2653.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.