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Multiple Sclerosis risk increased due to genes - 22nd study – Aug 2017

Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis

The American Journal of Human Genetics, Vol 101, # 2, 3 August 2017, Pages 227–238, https://doi.org/10.1016/j.ajhg.2017.06.014

VitaminDWiki
  • CYP2R1 gene problem resulted in 1.4X increased risk of Multiple Sclerosis
  • The CYP2R1 gene works in parallel with the liver to semi-activate vitamin D
  • A Vitamin D test measures the amount of semi-activated vitamin D in the blood
  • Another gene, the Vitamin D Receptor (VDR), independently restricts how much Vitamin D actually gets to the cells
  • A poor VDR is independently associated with 3X ncreased risk of MS
  • Note: 33+ diseases are strongly associated with the Vitamin D Receptor
    • Perhaps a 5X increase in chance of getting MS if both CYPR1 and VDR are bad

Genetics category listing contains the following

252 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, andi by 2017 was speculated to be 90%
  • Note: Good results from a blood test (> 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 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
        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&4

19+ studies of MS and Genetics
   (and 6+ studies with VDR, below) :

6+ studies of MS and Vitamin D Receptor:


Despoina Manousaki1, 2, 49, Tom Dudding3, 49, Simon Haworth3, 49, Yi-Hsiang Hsu4, 5, 6, 49, Ching-Ti Liu7, 49, Carolina Medina-Gómez8, 9, 10, 49, Trudy Voortman9, 10, 49, Nathalie van der Velde8, 11, 49, Håkan Melhus12, 49,

Vitamin D insufficiency is common, correctable, and influenced by genetic factors, and it has been associated with risk of several diseases. We sought to identify low-frequency genetic variants that strongly increase the risk of vitamin D insufficiency and tested their effect on risk of multiple sclerosis, a disease influenced by low vitamin D concentrations. We used whole-genome sequencing data from 2,619 individuals through the UK10K program and deep-imputation data from 39,655 individuals genotyped genome-wide. Meta-analysis of the summary statistics from 19 cohorts identified in CYP2R1 the low-frequency (minor allele frequency = 2.5%) synonymous coding variant g.14900931G>A (p.Asp120Asp) (rs117913124[A]), which conferred a large effect on 25-hydroxyvitamin D (25OHD) levels (−0.43 SD of standardized natural log-transformed 25OHD per A allele; p value = 1.5 × 10−88). The effect on 25OHD was four times larger and independent of the effect of a previously described common variant near CYP2R1.

By analyzing 8,711 individuals, we showed that heterozygote carriers of this low-frequency variant have an increased risk of vitamin D insufficiency (odds ratio [OR] = 2.2, 95% confidence interval [CI] = 1.78–2.78, p = 1.26 × 10−12).

Individuals carrying one copy of this variant also had increased odds of multiple sclerosis (OR = 1.4, 95% CI = 1.19–1.64, p = 2.63 × 10−5) in a sample of 5,927 case and 5,599 control subjects. In conclusion, we describe a low-frequency CYP2R1 coding variant that exerts the largest effect upon 25OHD levels identified to date in the general European population and implicates vitamin D in the etiology of multiple sclerosis.

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Multiple Sclerosis risk increased due to genes - 22nd study – Aug 2017        

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