CYP2R1 gene reduces response to Vitamin D - many studies

People with a poor CYP2R1 genes are poor Vitamin D responders
   Possible solution: take larger doses of Vitamin D


VitaminDWiki - Genetics chart shows the vitamin D genes

in Visio for 2023


Genes and other reasons for poor blood response to Vitamin D supplementation


24+ VitaminDWiki pages with CYP2R1 in title

This list is automatically updated

Items found: 24
Title Modified
Poor CYP2R1 gene reduces blood response to Vitamin D supplementation – Aug 2019 10 Feb, 2023
CYP2R1 gene reduces response to Vitamin D - many studies 10 Feb, 2023
Poor genes (DBP, CYP24A1, CYP2R, etc.) restrict Vitamin D to cells, increasing COVID hospitalization – May 2022 18 May, 2022
High-fat diet reduces CYP2R1 gene needed to make semi-activated vitamin D (mice) – Aug 2021 28 Aug, 2021
COVID-19 5X worse if poor Vitamin D gene (CYP2R1) – June 2021 21 Jun, 2021
Hypothesis: Obesity reduces Vitamin D production by repressing CYP2R1 gene in liver and fat tissue – July 2020 21 Jul, 2020
Poor CYP2R1 gene results in lower vitamin D and 2X increase in T1 Diabetes – Sept 2019 16 May, 2020
Fasting and Diabetes both reduce Vitamin D activation (CYP2R1 in rodents) – May 2019 19 Nov, 2019
Lung Cancer (NSLC) more lethal if poor Vitamin D gene ( CYP2R1) – Oct 2019 17 Oct, 2019
Response to Vitamin D varied by 12 ng due to gene variants (CYP2R1) – Aug 2019 15 Jun, 2019
CYP2R1 (vitamin D 25-hydroxylase ) semiactivates vitamin D in many places in the body 22 Feb, 2019
CYP2R1 gene problem increases Multiple Sclerosis risk by 1.4X – Dec 2018 16 Dec, 2018
Breast Cancer far more likely in the sister having poor Vitamin D binding protein or poor CYP2R1 gene – March 2018 18 Mar, 2018
Multiple Sclerosis 1.4 times more likely if poor CYP2R1 (Vitamin D) gene – Aug 2017 05 Aug, 2017
Vitamin D insufficiency was 3.7 X more likely if CYP2R1 gene variation– June 2014 02 Aug, 2016
CYP2R1 mutations also cause vitamin D-deficient rickets – July 2016 02 Aug, 2016
GC, CYP2R1 and DHCR7 genes associated with low vitamin D levels in China – 2012, 2013 15 Apr, 2016
CYP2R1 and GC variations decrease vitamin D response – PHD thesis Nov 2015 18 Feb, 2016
CYP2R1 gene probably responsible for low vitamin D response – RCT April 2014 02 Jun, 2015
Activation (methylation) of CYP2R1 and CYP24A1 predict response to dose of vitamin D – Oct 2013 24 Feb, 2015
Vitamin D levels reduced about 15 percent in those with CYP2R1 or GC gene variants – Feb 2014 30 Oct, 2014
Genes (CYP2R1 and GC) which restrict the amount of Vitamin D which gets into bloodstream – June 2014 15 Jul, 2014
GC and CYP2R1 genes associated with higher summer vitamin D levels – Jan 2013 04 Mar, 2014
Mice lacking CYP2R1 enzyme activate about half of much vitamin D – Sept 2013 17 Oct, 2013

CYP2R1 was the gene most associated with increased risk of Ischemic Stroke - Feb 2023

Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke
Stroke . 2023 Feb 10. doi: 10.1161/STROKEAHA.122.040883 PDF of Preprint
Yuhan Xie # 1, Julián N Acosta # 2, Yixuan Ye 3, Zachariah S Demarais 4, Carolyn J Conlon 4, Ming Chen 1, Hongyu Zhao 1 3, Guido J Falcone 2

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Background: Ischemic stroke (IS) is a highly heritable trait, and genome-wide association studies have identified several commonly occurring susceptibility risk loci for this condition. However, there are limited data on the contribution of rare genetic variation to IS.

Methods: We conducted an exome-wide study using whole-exome sequencing data from 152 058 UK Biobank participants, including 1777 IS cases. We performed single-variant analyses for rare variants and gene-based analyses for loss-of-function and deleterious missense rare variants. We validated these results through

  • (1) gene-based testing using summary statistics from MEGASTROKE-a genome-wide association study of IS that included 67 162 IS cases and 454 450 controls,
  • (2) gene-based testing using individual-level data from 1706 IS survivors, including 142 recurrent IS cases, enrolled in the VISP trial (Vitamin Intervention for Stroke Prevention); and
  • (3) gene-based testing against neuroimaging phenotypes related to cerebrovascular disease using summary-level data from 42,310 UK Biobank participants with available magnetic resonance imaging data.

Results: In single-variant association analyses, none of the evaluated variants were associated with IS at genome-wide significance levels (P<5×10-8). In the gene-based analysis focused on loss-of-function and deleterious missense variants, rare genetic variation at CYP2R1 was significantly associated with IS risk (P=2.6×10-6), exceeding the Bonferroni-corrected threshold for 16 074 tests (P<3.1×10-6). Validations analyses indicated that CYP2R1 was associated with IS risk in MEGASTROKE (gene-based test, P=0.003), with IS recurrence in the VISP trial (gene-based test, P=0.001) and with neuroimaging traits (white matter hyperintensity, mean diffusivity, and fractional anisotropy) in the UK Biobank neuroimaging study (all gene-based tests, P<0.05).

Conclusions: Because CYP2R1 plays an important role in vitamin D metabolism and existing observational evidence suggests an association between vitamin D levels and cerebrovascular disease, our results support a role of this pathway in the occurrence of IS.

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