RGD Reference Report - Investigation of vitamin D receptor polymorphisms in amyotrophic lateral sclerosis. - Rat Genome Database

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Investigation of vitamin D receptor polymorphisms in amyotrophic lateral sclerosis.

Authors: Torok, N  Torok, R  Klivenyi, P  Engelhardt, J  Vecsei, L 
Citation: Torok N, etal., Acta Neurol Scand. 2016 Apr;133(4):302-8. doi: 10.1111/ane.12463. Epub 2015 Jul 20.
RGD ID: 11560790
Pubmed: PMID:26190642   (View Abstract at PubMed)
DOI: DOI:10.1111/ane.12463   (Journal Full-text)

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/beta-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.




  
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Evidence
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Original Reference(s)
VDRHumanamyotrophic lateral sclerosis susceptibilityIAGP DNA:SNP:intron:rs7975232(human)RGD 
VdrRatamyotrophic lateral sclerosis susceptibilityISOVDR (Homo sapiens)DNA:SNP:intron:rs7975232(human)RGD 
VdrMouseamyotrophic lateral sclerosis susceptibilityISOVDR (Homo sapiens)DNA:SNP:intron:rs7975232(human)RGD 


Genes (Rattus norvegicus)
Vdr  (vitamin D receptor)

Genes (Mus musculus)
Vdr  (vitamin D (1,25-dihydroxyvitamin D3) receptor)

Genes (Homo sapiens)
VDR  (vitamin D receptor)