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Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

VDR

Vitamin D Receptor

CHR 12
12q13.11

Overview

VDR encodes the Vitamin D receptor, which mediates the effects of Vitamin D in the body. Variants influence calcium metabolism, bone health, immune function, and the risk for various diseases.

📍 Chromosomal Position

12q13.11 (Chromosome 12)

🧬 Gene Category

Vitamins

🔬 Inheritance

Complex

📊 Prevalence

Variants are very common

Function & Significance

The VDR receptor binds active Vitamin D (calcitriol) and regulates the expression of over 200 genes. It is important for:

  • Calcium Absorption: In the intestine
  • Bone Health: Bone mineralization
  • Immune System: Immune cell function
  • Cell Growth: Regulation of cell division

☀️ Vitamin D – The Sun Hormone

Vitamin D is produced in the skin through UV-B radiation:

  • Primary Source: Sunlight (80-90%)
  • Diet: Fatty fish, eggs, fortified foods (10-20%)
  • Deficiency: Very common in Germany (~60%)
  • Recommended Level: >30 ng/ml (75 nmol/L)

🧬 Relevant SNPs

Important VDR variants:

rs2228570
12:47879112
Allele 1

C

/

Allele 2

T

Significance: FokI Polymorphism

• TT (ff): Reduced VDR activity, increased Vitamin D requirement

• CC (FF): Normal VDR activity

• CT (Ff): Intermediate

rs1544410
12:47846052
Allele 1

A

/

Allele 2

G

Significance: BsmI Polymorphism

• AA (bb): Better calcium absorption, lower osteoporosis risk

• GG (BB): Reduced calcium absorption

• AG (Bb): Intermediate

💊 Recommendations by Genotype

For unfavorable VDR variants (TT/ff or GG/BB):

  • Higher Vitamin D Intake: 2000-4000 IU/day (instead of 1000 IU)
  • Regular Monitoring: Measure Vitamin D levels twice a year
  • More Sunlight: 15-30 minutes daily (face, arms)
  • Calcium-Rich Diet: Dairy products, green vegetables
  • Vitamin K2: Supports calcium incorporation into bones

🦴 Health Risks

Unfavorable VDR variants increase the risk for:

  • Osteoporosis: Reduced bone density
  • Bone Fractures: Increased fracture risk
  • Autoimmune Diseases: MS, Type 1 Diabetes
  • Susceptibility to Infection: More frequent colds

📚 Data Sources

The information on this page is based on the following scientific sources:

  • OMIM: #601769 – Online Mendelian Inheritance in Man
  • dbSNP: rs2228570, rs1544410 – SNP Database (NCBI)
  • ClinVar: Clinical Variant Database (NCBI)
  • PubMed: VDR and Bone Health Research
  • Endocrine Society: Vitamin D Guidelines

Last Update: February 2026

Biological Function

The VDR receptor mediates the effect of Vitamin D on calcium metabolism, bone health, and immune function.

Associated Conditions

Osteoporosis Rickets Autoimmune Diseases
Molecular Analysis

Analyzed Markers

rs2228570 Risk Factor
Pos: 12:47879112 | Alleles: C/T

FokI - TT(ff): reduced VDR activity, increased Vitamin D requirement

rs1544410 Protective
Pos: 12:47846052 | Alleles: A/G

BsmI - AA(bb): better calcium absorption, lower osteoporosis risk