Identification and analysis of 35 genes associated with vitamin D deficiency: A systematic review to identify genetic variants.
J Steroid Biochem Mol Biol. 2019 Oct 30:105516. doi: 10.1016/j.jsbmb.2019.105516
- People with poor immune systems in the 1800's - 20% died before becoming parents.
- Instead of survival of the fittest (80% survived) we now have survival of the survivors (99% survive)
- But with better hygiene, antibiotics, vaccines, and medical care there are many more people with poor immune systems survive to become parents.
- Low Vitamin D in blood is associated with 69 genes, only 6 of which are reported on - Feb 2020
Genetics category listing contains the following
- Vitamin D Receptor has
- Vitamin D Binding Protein = GC has
- CYP27B1 has
- CYP24A1 in title of 34+ items
- CYP24R1 25+ items
- Calcidiol has
- Calcitriol has
- Topical Vitamin D
- Nanoemulsion Vitamin D may be a substantially better form
- 1289 genes changed with higher doses of Vitamin D - RCT Dec 2019
- CYP3A4 (7 as of Dec 2022)
- Getting Vitamin D into your body
Vitamin D blood test misses a lot
- 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) 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
The risk of 44 diseases at least double with poor Vitamin D Receptor as of Oct 2019
Vitamin D Receptor Activation can be increased by any of:
Resveratrol, Omega-3, Magnesium, Zinc, non-daily Vitamin D dosing, etc
Note: The founder of VitaminDWiki uses 10 of the 12 known VDR activators
81+ Vitamin D Receptor pages with CANCER in the title
This list is automatically updatedItems found: 83
Sepulveda-Villegas M1, Elizondo-Montemayor L2, Trevino V3.
- 1 Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Bioinformatics Research Group, Ave. Morones Prieto 3000, Colonia Los Doctores, Monterrey, Nuevo León 64710, Mexico.
- 2 Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Bioinformatics Research Group, Ave. Morones Prieto 3000, Colonia Los Doctores, Monterrey, Nuevo León 64710, Mexico; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Center for Research in Clinical Nutrition and Obesity, Ave. Morones Prieto 3000, Colonia Los Doctores, Monterrey, Nuevo León 64710, Mexico; Tecnologico de Monterrey, Cardiovascular and Metabolomics Research Group, Hospital Zambrano Hellion, San Pedro Garza Garcia, P.C., 66278, Mexico.
- 3 Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Bioinformatics Research Group, Ave. Morones Prieto 3000, Colonia Los Doctores, Monterrey, Nuevo León 64710, Mexico. Electronic address: vtrevino at tec.mx.
Vitamin D deficiency is a public health concern associated with, but not limited to, skeletal anomalies, chronic diseases, immune conditions, and cancer, among others. Hypovitaminosis D is mainly associated with environmental and lifestyle factors that affect sunlight exposure. However, genetic factors also influence 25-hydroxyvitamin D (25OHD) serum concentration. Although there is available information of genes with clear biological relevance or markers identified by Genome-Wide Association Studies, an overall view and screening tool to identify known genetic causes of altered serum levels of 25(OH)D is lacking. Moreover, there are no studies including the total genetic evidence associated with abnormal serum concentration of 25(OH)D.
Therefore, we conducted a de-novo systematic literature review to propose a set of genes comprehensive of all genetic variants reported to be associated with deficiency of vitamin D. Abstracts retrieved from PubMed search were organized by gene and curated one-by-one using the PubTerm web tool. The genes identified were classified according to the type of genetic evidence associated with serum 25(OH)D levels and were also compared with the few commonly screened genes related to vitamin D status. This strategy allowed the identification of 35 genes associated with serum 25(OH)D concentrations, 27 (75%) of which are not commercially available and are not, therefore, analyzed in clinical practice for genetic counseling, nor are they sufficiently studied for research purposes. Functional analysis of the genes identified confirmed their role in vitamin D pathways and diseases.
Thus, the list of genes is an important source to understand the genetic determinants of 25(OH)D levels. To further support our findings, we provide a map of the reported functional variants and SNPs not included in ClinVar, minor allelic frequencies, SNP effect sizes, associated diseases, and an integrated overview of the biological role of the genes. In conclusion, we identified a comprehensive candidate list of genes associated with serum 25(OH)D concentrations, most of which are not commercially available, but would prove of importance in clinical practice in screening for patients that should respond to supplementation because of alterations in absorption, patients that would have little benefit because alterations in the downstream metabolism of vitamin D, and to study non-responsiveness to supplementation with vitamin D.Vitamin D deficiency is associated with 35 genes, only 7 of are commercially tested – Nov 2019
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