| Title: |
Serum vitamin D, vitamin D receptor and binding protein genes polymorphisms in restless legs syndrome. |
| Authors: |
Jiménez-Jiménez, Félix Javier1 (AUTHOR) fjavier.jimenez@salud.madrid.org, Amo, Gemma2 (AUTHOR), Alonso-Navarro, Hortensia1 (AUTHOR), Calleja, Marisol1 (AUTHOR), Díez-Fairén, Mónica3,4 (AUTHOR), Álvarez-Fernández, Ignacio3,4 (AUTHOR), Pastor, Pau3,4 (AUTHOR), Plaza-Nieto, José Francisco1 (AUTHOR), Navarro-Muñoz, Santiago5 (AUTHOR), Turpín-Fenoll, Laura5 (AUTHOR), Millán-Pascual, Jorge5 (AUTHOR), Recio-Bermejo, Marta5 (AUTHOR), García-Ruiz, Rafael5 (AUTHOR), García-Albea, Esteban6 (AUTHOR), Agúndez, José A. G.2 (AUTHOR), García-Martín, Elena2 (AUTHOR) |
| Source: |
Journal of Neurology. Apr2021, Vol. 268 Issue 4, p1461-1472. 12p. |
| Subject Terms: |
*VITAMIN D receptors, *RESTLESS legs syndrome, *VITAMIN D, *CARRIER proteins, *GENETIC polymorphisms, *ERGOCALCIFEROL |
| Abstract: |
Background/objectives: Several studies showed lower serum 25-hydroxyvitamin D levels in patients with idiopathic restless legs syndrome (RLS) compared with matched controls, and a single study showed an association between the rs731236 single nucleotide polymorphism (SNP) in the vitamin D receptor (VDR) gene and the risk for RLS. We aimed to study the relationship between the serum 25-hydroxyvitamin D levels and to confirm previous findings related to SNPs in the VDR and the GC vitamin D binding protein (GC) gene, with the risk for RLS in the Spanish Caucasian population. Methods: We genotyped 285 idiopathic RLS patients and 325 age and sex-matched controls for VDRrs2228750, VDRrs7975232, VDRrs739837, VDRrs78783628, GCrs7041 and GCrs4588 SNPs using TaqMan assays, and determined serum 25-hydroxyvitamin D levels in 111 idiopathic RLS patients and 167 controls using an ELISA commercial kit. Results: Serum 25-hydroxyvitamin D levels were significantly higher in RLS patients than in controls but were unrelated with the 7 SNPs studied. None of the 7 SNPs analyzed was associated with the risk for idiopathic RLS or with a positive family history of RLS. However, RLS patients carrying the rs7975232CC genotype or the rs7975232C allele, had a higher frequency of response to GABAergic drugs. Associations between the age at onset and the severity of RLS with SNPs were inconsistent. Conclusions: This study shows an association between increased serum concentrations of 25-hydroxyvitamin D and a lack of association between 7 SNPs in the VDR and in the GC genes with RLS in the Spanish Caucasian population. [ABSTRACT FROM AUTHOR] |
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