Investigation of vitamin D receptor polymorphisms in amyotrophic lateral sclerosis

N. Török, R. Török, P. Klivényi, J. Engelhardt, L. Vécsei

Research output: Contribution to journalArticle

3 Citations (Scopus)


Background: Amyotrophic lateral sclerosis (ALS) patients manifest aberrations in the vitamin D endocrine system, with a vitamin D deficiency. Genetic investigations have identified those proteins which link vitamin D to ALS pathology: major histocompatibility complex class II molecules, toll-like receptors, poly(ADP ribose) polymerase-1, haeme oxygenase-1, the reduced form of nicotinamide adenine dinucleotide phosphate and calcium-binding proteins. Vitamin D additionally impacts ALS through cell-signalling mechanisms: glutamate, matrix metalloproteinases, the Wnt/β-catenin signalling pathway, mitogen-activated protein kinase pathways, prostaglandins, reactive oxygen species and nitric oxide synthase, but its role has been only poorly investigated. Objective: Our aim was to investigate vitamin D receptor (VDR) gene single nucleotide polymorphisms (SNPs) in an ALS population. This gene encodes the nuclear hormone receptor for vitamin D3. Materials and Methods: A total of 75 consecutive sporadic ALS patients (~20% of the Hungarian ALS population) and 97 healthy controls were enrolled to investigate the possible effects of the different VDR alleles. A restriction fragment length polymorphism technique was utilized for allele discrimination. Results: One of the four investigated SNPs was associated with the disease, but none of the alleles of these SNPs influenced the age at disease onset. The ApaI A allele was more frequent in the ALS group than in the control group and may be an ALS risk factor. Conclusions: This is the first verification of the genetic link between ALS and VDR. However, further studies are needed to confirm these findings.

Original languageEnglish
Pages (from-to)302-308
Number of pages7
JournalActa Neurologica Scandinavica
Issue number4
Publication statusPublished - Apr 1 2016


  • Amyotrophic lateral sclerosis
  • ApaI
  • Neurogenetics
  • Vitamin D receptor gene

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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