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Lower vitamin D associated with several new genes (Korea GWAS) – Dec 2021

Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study

Endocrinol Metab (Seoul). 2021 Dec 2. doi: 10.3803/EnM.2021.1241
Ye An Kim 1, Ji Won Yoon 2, Young Lee 3, Hyuk Jin Choi 2, Jae Won Yun 3, Eunsin Bae 3, Seung-Hyun Kwon 3, So Eun Ahn 4, Ah-Ra Do 4, Heejin Jin 5, Sungho Won 4 5 6, Do Joon Park 7, Chan Soo Shin 7, Je Hyun Seo 3

Background: Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea. We aimed to investigate the genetic factors related to vitamin D levels in Korean people using a genome-wide association study (GWAS).

Methods: We included 12,642 subjects from three different genetic cohorts consisting of Korean participants. The GWAS was performed on 7,590 individuals using linear or logistic regression meta- and mega-analyses. After identifying significant single nucleotide polymorphisms (SNPs), we calculated heritability and performed replication and rare variant analyses. In addition, expression quantitative trait locus (eQTL) analysis for significant SNPs was performed.

Results: rs12803256, in the actin epsilon 1, pseudogene (ACTE1P) gene, was identified as a novel polymorphism associated with vitamin D deficiency. SNPs, such as rs11723621 and rs7041, in the group-specific component gene (GC) and rs11023332 in the phosphodiesterase 3B (PDE3B) gene were significantly associated with vitamin D deficiency in both meta- and mega-analyses. The SNP heritability of the vitamin D concentration was estimated to be 7.23%. eQTL analysis for rs12803256 for the genes related to vitamin D metabolism, including glutamine-dependent NAD(+) synthetase (NADSYN1) and 7-dehydrocholesterol reductase (DHCR7), showed significantly different expression according to alleles.

Conclusion: The genetic factors underlying vitamin D deficiency in Korea included polymorphisms in the GC, PDE3B, NADSYN1, and ACTE1P genes. The biological mechanism of a non-coding SNP (rs12803256) for DHCR7/NADSYN1 on vitamin D concentrations is unclear, warranting further investigations.

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VItaminDwiki - Genetics category has

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

VItaminDwiki - Vitamin D Binding Protein category listing has 150 items and:

Vitamin D Binding Protein (GC) gene can decrease the bio-available Vitamin D that can get to cells,

  • GC is not the only such gene - there are 3 others, all invisible to standard Vitamin D tests
  • The bio-available calculation does not notice the effect of GC, CYP27B1, CYP24A1, and VDR
  • The actual D getting to the cells is a function of measured D and all 4 genes
  • There is >2X increase in 8+ health problems if have poor VDBP (GC)
  • It appears that VDBP only blocks oral vitamin D,

VItaminDwiki - Vitamin D Binding Protein has a list of health problems

Health Problem
11 XPreeclampsia
6 XFood Allergy
4 X, 5XKidney Cancer
4 XPoor Response to Oral Vitamin D
3 XEar infection
2 X MS
2 X Colorectal Cancer
2 XProstate Cancer -in those with dark skins
1.3 XInfertility

it is strange that the study did not detect the Vitamin D Receptor

Created by admin. Last Modification: Thursday December 2, 2021 14:00:00 GMT-0000 by admin. (Version 6)

Attached files

ID Name Comment Uploaded Size Downloads
16675 Vit D gene chart Korea.jpg admin 02 Dec, 2021 13:53 69.42 Kb 33
16674 Gene Korea.jpg admin 02 Dec, 2021 13:52 31.13 Kb 31
16673 Genes Vit D Korea.pdf PDF 2021 admin 02 Dec, 2021 13:52 1.61 Mb 19
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