ArticleMultiple sclerosis and related disorders2014
Genetic evidence for a pathogenic role for the vitamin D3 metabolizing enzyme
Article in Multiple sclerosis and related disorders, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
22 citing papers in PubMed, 51 citations in OpenAlex.
- Investigating genetic links of vitamin D metabolism pathway genes (CYP2R1, CYP27B1, CYP24A1, and DBP) in Multiple Sclerosis patients.PloS one · 2025Article
- Review
- Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.Nature genetics · 2023Article
- SNPs in cytochrome P450 genes decide on the fate of individuals with genetic predisposition to Parkinson's disease.Frontiers in pharmacology · 2023Article
- New Insights into Risk Genes and Their Candidates in Multiple Sclerosis.Neurology international · 2022Review
- Role of Neural Stem Cells and Vitamin D Receptor (VDR)-Mediated Cellular Signaling in the Mitigation of Neurological Diseases.Molecular neurobiology · 2022Review
- TheIranian journal of biotechnology · 2022Article
- Antifungal Drug Plasma Exposures: A Possible Contribution of Vitamin D-Related Gene Variants.Pharmaceuticals (Basel, Switzerland) · 2022Article
- Epigenomic priming of immune genes implicates oligodendroglia in multiple sclerosis susceptibility.Neuron · 2022Article
- Plasma Protein Levels Analysis in Multiple Sclerosis Sardinian Families Identified C9 and CYP24A1 as Candidate Biomarkers.Life (Basel, Switzerland) · 2022Article
- Effects of Vitamin D and Dexamethasone on Lymphocyte Proportions and Their Associations With Serum Concentrations of 25-Hydroxyvitamin DFrontiers in immunology · 2021Article
- A New Risk Variant for Multiple Sclerosis at 11q23.3Journal of clinical medicine · 2020Article
- Vitamin D and Demyelinating Diseases: Neuromyelitis Optica (NMO) and Multiple Sclerosis (MS).Autoimmune diseases · 2020Review
- Identifying the culprits in neurological autoimmune diseases.Journal of translational autoimmunity · 2019Review
- Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.Brain and behavior · 2019Article
- CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study.Journal of molecular neuroscience : MN · 2018Article
- Role of CYP24A1, VDR and GC gene polymorphisms on deferasirox pharmacokinetics and clinical outcomes.The pharmacogenomics journal · 2018Article
- Maternal transmission disequilibrium of rs2248359 in type 2 diabetes mellitus families and its association with vitamin D level in offspring.Scientific reports · 2018Article
- Genomic Effects of the Vitamin D Receptor: Potentially the Link between Vitamin D, Immune Cells, and Multiple Sclerosis.Frontiers in immunology · 2018Review
- VDR and CYP24A1 Expression Analysis in Iranian Relapsing-Remitting Multiple Sclerosis Patients.Cell journal · 2017Article
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 4 countries.
Funding
Abstract
backgroundMultiple sclerosis (MS) is a common disease of the central nervous system and a major cause of disability amongst young adults. Genome-wide association studies have identified many novel susceptibility loci including rs2248359. We hypothesized that genotypes of this locus could increase the risk of MS by regulating expression of neighboring gene,
methodsWe investigated this hypothesis using paired gene expression and genotyping data from three independent datasets of neurologically healthy adults of European descent. The UK Brain Expression Consortium (UKBEC) consists of post-mortem samples across 10 brain regions originating from 134 individuals (1231 samples total). The North American Brain Expression Consortium (NABEC) consists of cerebellum and frontal cortex samples from 304 individuals (605 samples total). The brain dataset from Heinzen and colleagues consists of prefrontal cortex samples from 93 individuals. Additionally, we used gene network analysis to analyze UKBEC expression data to understand
findingsThe risk allele, rs2248359-C, is strongly associated with increased expression of
interpretationThe known MS risk allele rs2248359-C increases
fundingMedical Research Council UK; King Faisal Specialist Hospital and Research Centre, Saudi Arabia; Intramural Research Program of the National Institute on Aging, National Institutes of Health, USA.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.