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Breast Cancer far more likely in the sister having poor Vitamin D binding protein or poor CYP2R1 gene – March 2018

Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women.

Front Genet. 2018 Mar 1;9:67. doi: 10.3389/fgene.2018.00067. eCollection 2018.
O'Brien KM1, Sandler DP2, Shi M1, Harmon QE2, Taylor JA2, Weinberg CR1.


Study of genes of sisters with and without Breast Cancer

Items in both categories Breast Cancer and Genetics are listed here:

This study does not contain the word RECEPTOR.
The Vitamin D RECEPTOR is an important breast cancer gene

Items in both categories Breast Cancer and Vitamin D Receptor are listed here:

Genetics category listing contains the following

334 articles in the Genetics category

see also

Vitamin D blood test misses a lot
in Visio for 2023

  • 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
        especially if it is one of 51+ diseases related to Vitamin D Receptor
    2) Slightly increasing Vitamin D shows benefits (even if conventional Vitamin D test shows an increase)
    3) DNA and VDR tests - 120 to 200 dollars $100 to $250
    4) PTH bottoms out ( shows that parathyroid cells are getting Vitamin d)
       Genes are good, have enough Magnesium, etc.
    5) Back Pain
       probably want at least 2 clues before taking adding vitamin D, Omega-3, Magnesium, Resveratrol, etc
      • The founder of VitaminDWiki took action with clues #3&5

 Download the PDF from VitaminDWiki

Genetic factors likely influence individuals' concentrations of 25-hydroxyvitamin D [25(OH)D], a biomarker of vitamin D exposure previously linked to reduced risk of several chronic diseases. We conducted a genome-wide association study of serum 25(OH)D (assessed using liquid chromatography-tandem mass spectrometry) and 386,449 single nucleotide polymorphisms (SNPs).

Our sample consisted of 1,829 participants randomly selected from the Sister Study, a cohort of women who had a sister with breast cancer but had never had breast cancer themselves. 19,741 SNPs were associated with 25(OH)D (p < 0.05). We re-assessed these hits in an independent sample of 1,534 participants who later developed breast cancer. After pooling, 32 SNPs had genome-wide significant associations (p < 5 × 10-8).

These were located in or near GC, the vitamin D binding protein, or CYP2R1, a cytochrome P450 enzyme that hydroxylates vitamin D to form 25(OH)D. The top hit was rs4588, a missense GC polymorphism associated with a 3.5 ng/mL decrease in 25(OH)D per copy of the minor allele (95% confidence interval [CI]: -4.1, -3.0; p = 4.5 × 10-38). The strongest SNP near CYP2R1 was rs12794714, a synonymous variant (p = 3.8 × 10-12; β = 1.8 ng/mL decrease in 25(OH)D per minor allele [CI: -2.2, -1.3]). Serum 25(OH)D concentrations from samples collected from some participants 3-10 years after baseline (811 cases, 780 non-cases) were also strongly associated with both loci. These findings augment our understanding of genetic influences on 25(OH)D and the possible role of vitamin D binding proteins and cytochrome P450 enzymes in determining measured levels. These results may help to identify individuals genetically predisposed to vitamin D insufficiency.

PMID: 29545823 PMCID: PMC5838824 DOI: 10.3389/fgene.2018.00067

Created by admin. Last Modification: Sunday March 18, 2018 11:27:53 GMT-0000 by admin. (Version 6)

Attached files

ID Name Comment Uploaded Size Downloads
9541 Sisters Breast Cancer Genes.pdf admin 18 Mar, 2018 361.97 Kb 609