Serum vitamin D, vitamin D receptor and binding protein genes polymorphisms in restless legs syndrome.

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.

• Authors: Félix Javier Jiménez-Jiménez, Gemma Amo, Hortensia Alonso-Navarro, Marisol Calleja, Mónica Díez-Fairén, Ignacio Álvarez-Fernández, Pau Pastor, José Francisco Plaza-Nieto, Santiago Navarro-Muñoz, Laura Turpín-Fenoll, Jorge Millán-Pascual, Marta Recio-Bermejo, Rafael García-Ruiz, Esteban García-Albea, José A G Agúndez, Elena García-Martín
• Journal: Journal of neurology (J Neurol) Vol. 268 Issue 4 Pg. 1461-1472 (Apr 2021) ISSN: 1432-1459 [Electronic] Germany
• PMID: 33219423 (Publication Type: Journal Article)

Chemical References

• Carrier Proteins
• Receptors, Calcitriol
• VDR protein, human
• Vitamin D

Topics

• Carrier Proteins
• Genotype
• Humans
• Polymorphism, Single Nucleotide
• Receptors, Calcitriol (genetics)
• Restless Legs Syndrome (genetics)
• Vitamin D