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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: 26
Title Modified
Autoimmune diseases and poor Vitamin D genes – GC, CYP2R1, CYP27B1, and VDR – April 2024 01 May, 2024
Obese children have poor vitamin D genes (CYP27A1, CYP2R1, CYP27B1) – March 2024 31 Mar, 2024
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


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.

Attached files

ID Name Comment Uploaded Size Downloads
19196 CYP2R1 Stroke.jpg admin 10 Feb, 2023 128.62 Kb 349
19195 CYP2R1 preprint.pdf admin 10 Feb, 2023 433.93 Kb 135