|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The association of rs703842 variants in CYP27B1 with multiple sclerosis susceptibility is influenced by the HLA-DRB1*15:01 allele in Slovaks.
|
30875612 |
2019 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
However, vitamin D metabolism encoding genes of CYP27B1 and CYP24A1 and predicting MS risk gene of HLA-DRB1*15:01 define its fate as well.
|
27966076 |
2018 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The purpose of our study was to assess the genetic variants of VDBP and CYP27B1 in MS patients and in a control group.
|
27904983 |
2017 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
As a result, we could not perform meta-analysis for assessing the relationship in other ethnic groups.In summary, we found that the genetic variant rs703842 in CYP27B1 is associated with MS risk in Caucasians.
|
27175669 |
2016 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To compare vitamin D level-associated single-nucleotide polymorphisms (SNPs) in GC and CYP2R1, multiple sclerosis (MS) risk SNPs in CYP27B1, CYP24A1, and HLA-DRB1*1501, and adolescent exposure to environmental risk factors for hypovitaminosis D, with MS age at onset.
|
26446064 |
2016 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To investigate the influence of the multiple sclerosis (MS)-associated regulatory variant rs10877013 on the expression of genes involved in vitamin D activation (CYP27B1), vitamin D receptor (VDR), and vitamin D degradation (CYP24A1) under inflammatory environment or vitamin D.
|
26466946 |
2016 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our study suggested that variants of CYP27B1 were associated with both MS and NMO patients in Han Chinese population.
|
25542806 |
2015 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we utilize a differentiation protocol to generate inflammatory (DC1) and tolerogenic (DC2) DCs, and show that for the MS risk allele CYP27B1 is underexpressed in DCs, especially DC2s.
|
24158849 |
2014 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sequencing CYP27B1 failed to identify mutations known to cause loss of enzymatic activity, however genotyping of p.R389H in cases and controls identified the mutation in one multi-incident family (allele frequency=0.03%) in which the p.R389H mutation segregates with disease in five family members diagnosed with MS, thus providing additional support for CYP27B1 p.R389H in the pathogenicity of MS.
|
24308945 |
2014 |
|
Multiple Sclerosis
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Increased VDR expression in MS NAWM and inflammatory cytokine-induced amplified expression of VDR and CYP27B1 in chronic active MS lesions suggest increased sensitivity to vitamin D in NAWM and a possible endogenous role for vitamin D metabolism in the suppression of active MS lesions.
|
23334593 |
2013 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.
|
23444327 |
2013 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These results provide evidence against a major role for CYP27B1 mutations in MS.
|
23483640 |
2013 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
An article describing the use of next-generation sequencing to identify a rare mutation in CYP27B1 in a MS family is also discussed.
|
22516854 |
2012 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The demonstration that rare variants in CYP27B1, which encodes the enzyme that converts vitamin D to its active form, are strongly associated with MS risk supports a causal role of vitamin D deficiency as a risk factor for MS.
|
22547098 |
2012 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Further genotyping in >12,500 individuals showed that other rare loss of function CYP27B1 variants also conferred significant risk of MS, Peto odds ratio = 4.7 (95% confidence interval, 2.3-9.4; p = 5 × 10(-7)).
|
22190362 |
2011 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The 'C' allele of CYP27B1 rs703842 was inversely associated with MS risk; this association appeared stronger among HLA-DR15 negative (OR = 0.79, 95% CI: 0.69, 0.90) compared to HLA-DR15 positive individuals (OR = 0.91, 95% CI: 0.80, 1.04).
|
21431378 |
2011 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Seventy-one SNPs, across four genes [vitamin D receptor (VDR), 1-alpha-hydroxylase (CYP27B1) enzyme, vitamin D binding protein (DBP), 24-hydroxylase (CYP24)], were genotyped and tested for association with MS susceptibility using TDT in PLINK.
|
21440908 |
2011 |
|
Multiple Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Confirmation of association between multiple sclerosis and CYP27B1.
|
20648053 |
2010 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
|
19525955 |
2009 |
|
Multiple Sclerosis
|
0.200 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
|
19525955 |
2009 |
|
Multiple Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
We have identified 3 patients with this disease who later developed MS. We propose that VDDR I and possibly other hereditary rickets mutations that influence vitamin D metabolism could be risk factors for this disease.
|
18541802 |
2008 |
|
Multiple Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
We 1) examined the association of serum 25-hydroxy-vitaminD [25(OH)D] concentrations and MS status and 2) assessed the genetic contribution to serum 25(OH)D concentrations and tested for its association with genetic variants in 2 candidate genes [vitamin D receptor and 1-alpha-hydroxylase (CYP27B1)].
|
18689381 |
2008 |