CYP2R1

Last update 08 May 2025

Basic Info

Synonyms

CYP2R1, Cytochrome P450 2R1, cytochrome P450 family 2 subfamily R member 1

+ [2]

Introduction

A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070). Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D(2) (doxercalciferol) and 1alpha-hydroxyvitamin D(3) (alfacalcidol) forming 25-hydroxy derivatives (PubMed:15465040, PubMed:18511070). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:12867411, PubMed:15465040, PubMed:18511070).

100 Clinical Results associated with CYP2R1

100 Translational Medicine associated with CYP2R1

0 Patents (Medical) associated with CYP2R1

618

Literatures (Medical) associated with CYP2R1

01 Jul 2025·The Journal of Steroid Biochemistry and Molecular Biology

Follicular fluid concentrations of the vitamin D metabolite 24,25(OH)2D3 are positively associated with live birth rate after assisted reproductive technology

Article

Author: Bentin-Ley, Ursula ; Kooij, Ireen ; Juul, Anders ; Jørgensen, Anne ; Hayden Berg, Anders ; Lorenzen, Mette ; Krog, Hans ; Juel Mortensen, Li ; Blomberg Jensen, Martin ; Kristensen, Stine Gry ; Holt, Rune

OBJECTIVETo investigate the relationship between concentrations of vitamin D metabolites in follicular fluid and outcome of assisted reproductive technology (ART) treatment.DESIGNProspective cohort study including 116 women undergoing in vitro fertilization (IVF) or intra cytoplasmic sperm injection (ICSI) treatment.RESULTSAll measured vitamin D metabolites 25OHD₃, 1,25(OH)₂D₃ and 24,25(OH)₂D₃ are detectable in follicular fluid. Follicular fluid concentration of the 24,25(OH)₂D₃ metabolite was higher than corresponding serum values, while the opposite phenomenon was observed for the 1,25(OH)₂D₃ metabolite. Local conversion is plausible as the vitamin D activating enzymes (CYP2R1 and CYP27B1) as well as the vitamin D receptor (VDR) are highly expressed in the developing follicle. Women who achieved a live birth had 29 % higher 24,25(OH)₂D₃ and 15 % higher 25OHD₃ concentrations in their follicular fluid (18 ± 7.9 versus 14 ± 6.2 nmol/L, p = 0.008 and 71 ± 22 versus 62 ± 18 nmol/L, p = 0.025, respectively) compared to women not achieving a live birth. Moreover, women with a low (≤ 15 %) follicular fluid 1,25(OH)₂D₃/24,25(OH)₂D₃ ratio had a higher live birth rate compared to women with a medium (16-84 %) or high (≥ 85 %) ratio (live birth rate: 53 % vs 29 % and 12 %, respectively, p = 0.032).CONCLUSIONThis study reveals that high levels of 24,25(OH)₂D₃ and low levels of the 1,25(OH)₂D₃/24,25(OH)₂D₃ ratio in follicular fluid are associated with increased live birth rates in women undergoing IVF/ICSI treatment. Conversion of vitamin D metabolites systemically or in the ovarian follicle may affect ART outcome. Further studies are warranted to support the findings from this pilot study and identify regulators of ovarian vitamin D metabolites.

01 May 2025·Veterinary Immunology and Immunopathology

Relationships between liver and rumen fluke infections, milk somatic cells and polymorphisms in the Toll-like receptor 5 gene and vitamin D metabolism-related genes in Holstein dairy cows

Article

Author: Giambra, Isabella Jasmin ; Strube, Christina ; König, Sven ; May, Katharina ; Gheitanchi, Fatemeh ; Hecker, Anna Sophie

This study investigated polymorphisms in the genes CYP3A4, CYP2R1, and TLR5, and their associations with liver fluke (Fasciola hepatica) and rumen fluke (Calicophoron / Paramphistomum spp.) infections as well as with milk somatic cell count (SCC) as an indicator for mastitis in Holstein Friesian dairy cows. DNA sequencing of the genes' exons, 5'-, 3'-untranslated regions (UTR), introns, and flanking regions of 24 cows revealed 442 variants (388 SNPs and 54 InDels) including 116 previously unknown variants. We detected three novel non-synonymous variants leading to the derived amino acid exchanges, i.e. CYP3A4 p.Gly197Ser, CYP3A4 p.Ile388Val, and CYP2R1 p.Val11Ala. The newly identified SNP 25:36589922 T > C (ss11846100002) is positioned in the splice site of CYP3A4, but showed no impact on the binding score of the splice enzymes. The CYP2R1 and TLR5 genes presented 11 SNPs in the 5'- and 3'-UTR, partly influencing transcription factor binding or microRNA target sites. Associations between polymorphisms and constructed haplotypes with infection traits were analysed via (generalized) linear mixed models including further potential confounders. In total, 109 variants in CYP3A4, 37 variants in CYP2R1, and 18 variants in TLR5 were significantly associated with F. hepatica and rumen fluke infections, and with SCC. The CYP2R1 and TLR5 variants were mostly linked to SCC, indicating the genes' roles in immune responses to bacterial infections. Haplotype analysis revealed significant associations between specific CYP3A4 haplotypes and F. hepatica worm count and faecal egg counts. This study revealed significant insights into gene polymorphisms related to vitamin D metabolism and immune response, which seem to play a role in helminth and udder infections.

01 Apr 2025·Nutrition Research

Genetic variants in vitamin D metabolism-related genes are associated with vitamin D status and adiposity markers

Article

Author: Patiño, Nelly ; López-Pérez, Tania V ; Castillejos-López, Manuel ; Denova-Gutiérrez, Edgar ; Aparicio-Bautista, Diana I ; Rivera-Paredez, Berenice ; Hidalgo-Bravo, Alberto ; Salmerón, Jorge ; Velázquez-Cruz, Rafael ; Becerra-Cervera, Adriana ; Jiménez-Ortega, Rogelio F

Single nucleotide variants (SNVs) in vitamin D (VD) metabolism genes have been shown to be associated with serum 25(OH)D concentrations. Although these associations have been reported in other populations, they are less studied in Mexico, a country with high vitamin D deficiency (VDD) despite ample sun exposure. Therefore, we investigate the association between VD-metabolism related SNVs, serum 25(OH)D concentrations, and their impact on VDD and adiposity indicators. We hypothesized that SNVs are associated with serum 25(OH)D concentrations in the Mexican population. We included 1977 individuals (597 males and 1380 females) from the Health Worker Cohort Study. Nine genetic variants: rs10741657 (CYP2R1), rs6013897 (CYP24A1), rs10877012 (CYP27B1), rs10783219 and rs4516035 (VDR), rs4588 and rs7041 (GC), rs4944957 and rs3794060 (NADSYN1), in VD metabolism-related genes were genotyped. Linear and logistic regression models were used to assess the association of interest. In our study, 7 genetic variants were associated with serum 25(OH)D concentrations and VDD. A genetic risk score was created using variants rs6013897 (CYP24A1), rs4516035 (VDR), and rs4588 (GC), which were associated with lower serum 25(OH)D concentrations, higher VDD prevalence, and increased odds of VDD. A second GRS using all 9 variants showed weaker associations. Gene-gene interactions between rs3794060-rs4944957 (NADSYN1), and rs10877012(CYP27B1)-rs7041(GC), were associated with serum 25(OH)D concentrations and VDD, respectively. Additionally, SNV interactions with body mass index, waist circumference, and body fat distribution were identified. These findings suggest that SNVs influence serum 25(OH)D concentrations and adiposity indicators, with potential clinical implications for obesity management.

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CYP2R1

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