The rs2228570 Variant of the Vitamin D Receptor Gene is Associated with Essential Tremor

Sazcı, Ali; Üren, Nihal; İdrisoğlu, Halil Atilla; Ergül, Emel

doi:10.1007/s12264-018-0287-6

Cited by 13 publications

(10 citation statements)

References 18 publications

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“…Regarding the VDR gene, the TT genotype of the rs2228570 was associated with sporadic essential tremor (SET) (p = 0.033; OR = 0.453 and similarly, the C allele was associated with an increased risk of SET (p = 0.033; OR = 2.207) [ 81 ], while the rs731236 did not associate with ET in Chinese [ 18 ].…”

Section: Resultsmentioning

confidence: 99%

Genetic Risk Factors for Essential Tremor: A Review

Siokas

Aloizou

Tsouris

et al. 2020

Tremor and Other Hyperkinetic Movements

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Highlights In the current review, we thoroughly reviewed 74 identified articles regarding genes and genetic loci that confer susceptibility to ET. Over 50 genes/genetic loci have been examined for possible association with ET, but consistent results failed to be reported raising the need for collaborative multiethnic studies. Background: Essential tremor (ET) is a common movement disorder, which is mainly characterized by bilateral tremor (postural and/or kinetic) in the upper limbs, with other parts of the body possibly involved. While the pathophysiology of ET is still unclear, there is accumulating evidence indicating that genetic variability may be heavily involved in ET pathogenesis. This review focuses on the role of genetic risk factors in ET susceptibility. Methods: The PubMed database was searched for articles written in English, for studies with humans with ET, controls without ET, and genetic variants. The terms "essential tremor" and "polymorphism" (as free words) were used during search. We also performed meta-analyses for the most examined genetic variants. Results: Seventy four articles concerning LINGO1,

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Section: Resultsmentioning

confidence: 99%

Genetic Risk Factors for Essential Tremor: A Review

Siokas

Aloizou

Tsouris

et al. 2020

Tremor and Other Hyperkinetic Movements

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“…Vitamin D and its receptor VDR are closely associated with the development and appearance of autoimmune diseases, especially in MS [19,[35][36][37]. Although the symptoms of MS can be managed by vitamin D3 (D3) treatment alone, this condition cannot be completely eradicated.…”

Section: Discussionmentioning

confidence: 99%

“…Direct immunomodulatory effects of D3 on cells of the central nervous system (CNS), including astrocytes [13] and microglia [14], have recently been reported, and the D3 signals in a variety of immune cells are mediated by the vitamin D receptors (VDRs) [15][16][17]. The regulatory role of VDRs in adaptive immune responses also includes an inhibitory effect on dendritic cell maturation and differentiation [18,19]. Vitamin D analogs like paricalcitol (PC) attenuate the inflammatory process and preserve the myelin sheath [20,21].…”

Section: Introductionmentioning

confidence: 99%

MiR-125a-5p Regulates Vitamin D Receptor Expression in a Mouse Model of Experimental Autoimmune Encephalomyelitis

Long

Liu

et al. 2019

Neurosci. Bull.

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Multiple sclerosis (MS) is a chronic and incurable autoimmune neurodegenerative disease of the central nervous system. Although the symptoms of MS can be managed by vitamin D3 treatment alone, this condition cannot be completely eradicated. Thus, there might be unknown factors capable of regulating the vitamin D receptor (VDR). Genome-wide analysis showed that miRNAs were associated with VDRs. We sought to determine the role and mechanism of action of miRNA-125a-5p and VDRs in a model of MS, mice with experimental autoimmune encephalomyelitis (EAE), which was induced by myelin oligodendrocyte glycoprotein 35-55 peptides. EAE mice showed decreased mean body weight but increased mean clinical scores compared with vehicle or control mice. And inflammatory infiltration was found in the lumbosacral spinal cord of EAE mice. In addition, VDR expression was significantly lower while the expression of miR-125a-5p was markedly higher in the spinal ventral horn of EAE mice than in vehicle or control mice. Importantly, activation of VDRs by paricalcitol or inhibition of miR-125a-5p by its antagomir markedly decreased the mean clinical scores in EAE mice. Interestingly, VDR and miR-125a-5p were co-localized in the same neurons of the ventral horn. More importantly, inhibition of miR-125a-5p remarkably blocked the decrease of VDRs in EAE mice. These results support a critical role for miR-125a-5p in modulating VDR activity in EAE and suggest potential novel therapeutic interventions.

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“…There seems to be a link between the occurrence of essential tremor and vitamin D receptor polymorphism. In a case-control genetic association study on 239 sporadic essential tremor patients and 239 healthy controls, Sazci et al analyzed the rs2228570 variant of the human vitamin D receptor gene [30]. The rationale behind this project was that genetic studies on vitamin D receptor polymorphisms had indicated its involvement in neurological disorders like PD [31].…”

Section: Essential Tremormentioning

confidence: 99%

“…He, therefore, concluded that the rs2228570 variant should be considered to be a genetic risk factor for sporadic essential tremor. Whether and in as much this receptor polymorphism, however, is directly involved in the development of sporadic essential tremor he cautioned, remains to be elucidated [30].…”

Section: Essential Tremormentioning

confidence: 99%

Vitamin D and Hyperkinetic Movement Disorders: A Systematic Review

Homann

Ivanic²,

Homann

et al. 2020

Tremor and Other Hyperkinetic Movements

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Background: The importance of vitamin D deficiency in Parkinson's disease, its negative influence on bone health, and even disease pathogenesis has been studied intensively. However, despite its possible severe impact on health and quality of life, there is not a sufficient understanding of its role in other movement disorders. This systematic review aims at providing an overview of the prevalence of vitamin D deficiency, bone metabolism alterations, and fractures in each of the most common hyperkinetic movement disorders (HKMDs). Methods: The study search was conducted through PubMed with keywords or Medical Related Subjects (MeSH) of common HKMDs linked with the terms of vitamin D, osteoporosis, injuries, and fractures. Results: Out of 1585 studies screened 40 were included in our review. They show that there is evidence that several HKMDs, including Huntington disease, Restless Legs Syndrome, and tremor, are associated with low vitamin D serum levels in up to 83% and 89% of patients. Reduced bone mineral density associated with vitamin D insufficiency was described in Huntington disease. Discussion: Our survey suggests that vitamin D deficiency, bone structure changes, and fractures are important but yet under-investigated issues in HKMDs. HKMDs-patients, particularly with a history of previous falls, should have their vitamin D-levels tested and supplemented where appropriate. Highlights: Contrary to Parkinson's disease, vitamin D deficiency, and bone abnormalities are underinvestigated in hyperkinetic movement disorders (HKMDs). Several HKMDs, including essential tremor, RLS, and Huntington disease, are associated with vitamin D deficiency in up to 89%, the latter also with reduced bone mineral density. Testing and where appropriate supplementation is recommended.

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The rs2228570 Variant of the Vitamin D Receptor Gene is Associated with Essential Tremor

Cited by 13 publications

References 18 publications

Genetic Risk Factors for Essential Tremor: A Review

Genetic Risk Factors for Essential Tremor: A Review

MiR-125a-5p Regulates Vitamin D Receptor Expression in a Mouse Model of Experimental Autoimmune Encephalomyelitis

Vitamin D and Hyperkinetic Movement Disorders: A Systematic Review

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