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Low Vitamin D in blood is associated with 69 genes, only 6 of which are reported on - Feb 2020

Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci

American Journal of Human Genetics (2020), https://doi.Org/10.1016/j.ajhg.2020.01.017
Despoina Manousaki,,, Ruth Mitchell,,10 Tom Dudding,3, Simon Haworth,3,4 Adil Harroud, Vincenzo Forgetta,2 Rupal L. Shah, Jian'an Luan,6 Claudia Langenberg,6 Nicholas J. Timpson,3 and J. Brent Richards1,2,,, ,*

Strength of Evidence



Genetics category listing contains the following

287 articles in the Genetics category

see also

Vitamin D blood test misses a lot
Blood Test Misses a lot (VDW 3439)

  • Snapshot of the literature by VitaminDWiki as of early 2019
  • Vitamin D from coming from tissues (vs blood) was speculated to be 50% in 2014, and by 2017 was speculated to be 90%
  • Note: Good blood test results (> 40 ng) does not mean that a good amount of Vitamin D actually gets to cells
  • A Vitamin D test in cells rather than blood was feasible (2017 personal communication)
  •    Commercially available 2019
    • However test results would vary in each tissue due to multiple genes
  • Good clues that Vitamin D is being restricted from getting to the cells
    1) A vitamin D-related health problem runs in the family
    2) Slightly increasing Vitamin D show benefits (even if conventional Vitamin D test shows an increase)
    3) Vitamin D Receptor test (<$30) scores are difficult to understand in 2016
    • easier to understand the VDR 23andMe test results analyzed by FoundMyFitness in 2018

    4) Back Pain

Additional information on the Genes in VitaminDWiki

Gene# of pages Location
CYP27A1449 (Sept 2019) Liver
CYP2R1 826 (Sept 2019)Liver & Tissue
CYP27B11430   (Sept 2019) Kidney & Tissue
CYP24A1 1360   (Sept 2020) excrete excess

 Download the PDF from Sci-Hub via VitaminDWiki

We aimed to increase our understanding of the genetic determinants of vitamin D levels by undertaking a large-scale genome-wide association study (GWAS) of serum 25 hydroxyvitamin D (25OHD). To do so, we used imputed genotypes from 401,460 white British UK Biobank participants with available 25OHD levels, retaining single-nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) > 0.1% and imputation quality score > 0.3. We performed a linear mixed model GWAS on standardized log-transformed 25OHD, adjusting for age, sex, season of measurement, and vitamin D supplementation. These results were combined with those from a previous GWAS including 42,274 Europeans. In silico functional follow-up of the GWAS results was undertaken to identify enrichment in gene sets, pathways, and expression in tissues, and to investigate the partitioned heritability of 25OHD and its shared herita- bility with other traits. Using this approach, the SNP heritability of 25OHD was estimated to 16.1%.138 conditionally independent SNPs were detected (p value < 6.6 x 10_9) among which 53 had MAF < 5%. Single variant association signals mapped to 69 distinct loci, among which 63 were previously unreported. We identified enrichment in hepatic and lipid metabolism gene pathways and enriched expression of the 25OHD genes in liver, skin, and gastrointestinal tissues. We observed partially shared heritability between 25OHD and socio-economic traits, a feature which may be mediated through time spent outdoors. Therefore, through a large 25OHD GWAS, we identified 63 loci that underline the contribution of genes outside the vitamin D canonical metabolic pathway to the genetic architecture of 25OHD.

Created by admin. Last Modification: Saturday December 19, 2020 14:24:32 GMT-0000 by admin. (Version 5)

Attached files

ID Name Comment Uploaded Size Downloads
13549 Gene correlation.jpg admin 27 Feb, 2020 03:54 109.70 Kb 71
13548 Gene association.jpg admin 27 Feb, 2020 03:54 37.37 Kb 83
13547 69 genes Sci-Hub.pdf PDF 2020 admin 27 Feb, 2020 03:53 679.60 Kb 113
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