The "A" (minor) allele is associated with:

  • Lower VDR activation and lower levels of VDR .
  • AA= higher bone mass and better bone structure (R).
  • The presence of the A allele results in production of a VDR protein that is less effective as a transcriptional activator (R). Meaning the VDR protein can't induce its target genes as well.
  • 1.26X increased risk of developing breast cancer (R). AA= 34% higher breast cancer risk in the Nurses' Health Study. (Previous smaller studies of this snp and breast cancer risk were null (R)).
  • Increased risk of kidney stones in Asians (one or two As)  (R).
  • AA had worse survival odds for oral cancers (R).

The "G" (major) allele is associated with:

  • Higher risk of oral lichen planus (R). 
  • The G allele results in a protein with a different size. This is the only known protein changing SNP in VDR gene (R).
  • GG= Increased risk of aggressive gum disease in Chinese and Korean populations (R).
  • 2-fold increase in risk of developing discopathies (such as herniated disc) and/or osteochondrosis (derangement of bone growth), while the A allele was protective (R).

Summary for VDR FokI

A=minor allele, lower VDR activation.

AA results in a higher bone mass and better bone structure (R).

The G allele results in a protein with a different size. This is the only known protein changing SNP in VDR gene (R).

The G codes for a 424 aminoacid protein, while the A allele codes for a 427 aminoacid protein.  The short and long protein forms are associated to a different ability to induce vitamin D-dependent genes (R).

There was a 24% increased risk for ovarian cancer per copy of the T allele among younger women was 24% (p = 0.02) (R).

The presence of the A allele results in production of a VDR protein that is less effective as a transcriptional activator (R).  Meaning the VDR protein can't induce its target genes as well.

GG genotype was associated with aggressive gum disease in Chinese and Korean populations (R).

The G allele increased by 2-fold the risk of developing discopathies (such as herniated disc) and/or osteochondrosis (derangement of bone growth), while the A allele was protective (R).

The A or the minor allele, is associated with 1.26X higher Breast cancer risk (R).  AA was associated with a statistically significant 34% higher breast cancer risk in the Nurses' Health Study. Previous smaller studies of this snp and breast cancer risk were null (R).

One or two A alleles was associated with the risk of kidney stones in Asians (R).

AA had worse survival odds for oral cancer (R).

The wild type allele (presumably A) had higher risk of oral lichen planus (R).

(G=F, A=f) (R).

rs2228570

Parent Gene: VDR

Importance: 5
Less common allele: A = 33%
More common allele: G = 67%
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