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Human Polyclonal CYP2R1 Primary Antibody pour IHC (p), WB - ABIN392380
Ochiai, Hirose, Kawamura, Komachi, Yamamoto, Kitaoka, Hatogai, Kusunoki, Kon, Ikarashi, Sugiyama: Role of the Drug-Metabolizing Enzyme CYP during Mouse Liver Development. dans Biological & pharmaceutical bulletin 2017
Genetic variants of CYP2R1 are key determinants of serum 25OHD levels and are highly associated with myocardial infarction risk. The three studied SNPs were associated with significantly different total 25OHD levels and their genotype distributions differed significantly between MI patients and controls where the high risk genotypes were AG/AA for rs2060793, AG/GG for rs1993116 and AG/AA for rs10766197.
Published articles provide evidence supporting a major role for the rs10741657 polymorphism of the CYP2R1 gene in determining 25(OH)D levels and the presence of vitamin D deficiency. [review]
Results also showed for the first that polymorphisms of CYP2R1 gene (rs1993116 and rs10766197) were significantly associated with type 2 diabetes mellitus in a Chinese rural population.
No significant differences were found between ischemic stroke patients and controls in terms of CYP24A1 rs927650 and CYP2R1 rs10741657 genotype frequencies. Polymorphic allele frequencies of CYP24A1 rs927650 and CYP2R1 rs10741657 were 0.414 and 0.660 in stroke patients, respectively.
genetic association study in population in north India: Data suggest (1) GT allele of VDBP SNP rs7041, (2) VDBP allelic combination (GC1F/1F: T allele rs4588; C allele rs7041), and (3) GA allele of CYP2R1 SNP rs2060793 are associated with vitamin D deficiency in women with PCOS (polycystic ovarian syndrome) in population studied. (VDBP = vitamin D-binding protein; CYP2R1 = cytochrome P450 family 2 subfamily R member 1)
The results of this study suggested that a role of CYP2R1 rs10766197 in both risk and progression of Muscle sclerosis with sex-related differences.
CYP2R1 polymorphisms are important modulators of circulating 25-hydroxyvitamin D levels in elderly females with vitamin insufficiency.
CYP3A4*22 and combined CYP3A genotypes are unlikely to provide additional information beyond CYP3A5 genotype.
This article concludes that mutations in CYP2R1 are responsible for an atypical form of vitamin D-deficiency rickets, which has been classified as vitamin D dependent rickets type 1B (VDDR1B, MIM 600081). [review]
The authors describe a low-frequency CYP2R1 coding variant that exerts the largest effect upon 25-hydroxyvitamin D levels identified to date in the general European population and implicates vitamin D in the etiology of multiple sclerosis.
Allelic variations in CYP2R1 and GC affect vitamin D levels, but variant alleles on VDR and DHCR7 were not correlated with vitamin D deficiency.
Expression of CYP2R1 was in spermatozoa from healthy controls compared with infertile men, however the percentage of spermatozoa expressing CYP2R1 was not significantly higher.
our study for the first time reports a potentially causative role of CYP2R1 mutation in Vogt-koyanagi-harada disease.
In a Pakistani population, no statistically significant associations between SNPs in VDR, DBP, and CYP2R1 and tuberculosis was demonstrated.
Vitamin D related (VDR rs2228570 and CYP2R1 rs10741657) and IL28B rs12979860 genes polymorphisms accurately assure sustained viral response in naive CHC G4 patients treated with low cost standard therapy.
The aim of this study was to investigate the association of three polymorphisms in the GC gene (rs7041 and rs4588) and CYP2R1 gene (rs10741657) on 25-(OH) VD serum concentration among Jordanians.
rs11023374 in CYP2R1 was significantly associated with serum 25(OH)D3.
The VDR and CYP2R1 variants may be involved in genetic interactions in the pathogenesis of persistent allergic rhinitis.
Significant associations were found between the GC (rs2282679 and rs7041), CYP2R1 (rs10741657) single nucleotide polymorphisms and the active form of Vitamin D, 25(OH)D.
Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency.
cytochrome P450, family 2, subfamily R, polypeptide 1
, vitamin D 25-hydroxylase
, similar to cytochrome P450 2R1
, cytochrome P450 2R1
, cytochrome P450, family 2, R1
, cytochrome P450, 2r1