Alzheimer’s patients 3X more likely to have a malfunctioning vitamin D receptor gene – 2012

Vitamin D receptor gene haplotype is associated with late-onset Alzheimer's disease.

Tohoku J Exp Med. 2012;228(3):189-96.
Gezen-Ak D, Dursun E, Bilgiç B, Hanağasi H, Ertan T, Gürvit H, Emre M, Eker E, Ulutin T, Uysal O, Yilmazer S.
Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Vitamin D(3) is a neurosteroid that mediates its effects via the vitamin D receptor (VDR). The VDR gene is located on chromosome 12q13 and consists of 9 exons. VDR contains the DNA-binding site encoded by exons 2 and 3 and the ligand-binding site encoded by exons 4 - 9. Our earlier study showed that the ApaI polymorphic site of the VDR gene is associated with late-onset Alzheimer's disease (AD). Here, we investigated the association between additional polymorphisms of the VDR gene and AD using the same samples. Two single nucleotide polymorphisms (SNPs) in intron 8 (BsmI and Tru9I polymorphisms) and one in exon 2 (FokI polymorphism) of the VDR gene were examined in up to 108 AD patients and 115 age-matched controls. Genotypes were determined with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. Haplotype analysis also included the previously studied polymorphic sites that were recognized by TaqI (in exon 9) and ApaI (in intron 8) restriction enzymes. There was no significant difference between AD patients and controls when their genotypes for BsmI, Tru9I and FokI polymorphic sites were compared. However, the frequency of "TaubF" haplotype (alleles of TaqI, ApaI, Tru9I, BsmI and FokI, respectively), which was determined by analyzing 5 polymorphisms together, was significantly higher in the AD patient group, suggesting that this haplotype is a risk factor in AD. Our results point out a possible link between AD and certain VDR polymorphisms and indicate that individuals with these polymorphisms might be vulnerable to AD.

PMID: 23076256
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VitaminDWiki Comment

Even if you have an adquate level serum of vitamin D, you have increased chance of Alzheimer's if you have this gene problem.
The cells are not able to use the vitamin D in the serum as well with this faulty gene.
Until the technology exists to fix the gene, the solution is probably to increase the vitamin D in the blood, that is, get more vitamin D / UV
Note: in some other diseases such as MS, UV may be more important than vitamin D

See also VitaminDWiki

• Alzheimer’s Disease is associated with genes which restrict vitamin D – Aug 2015
• Lower vitamin D in blood causes Alzheimer's Disease (Mendelian gene analysis) – Dec 2019
• Benefits of Vitamin D often limited by genes
• All items in Vitamin D Receptor 530 items
• All items in category Cognition and vitamin D 391 items
• 16 articles are in both Cognition and Vitamin D Receptor categories
• Overview Alzheimer's-Cognition and Vitamin D which has the following 3 items

1) Vitamin D receptor and Alzheimer's Disease: a genetic and functional study.
Neurobiol Aging.2012 Feb 3 PMID = 22306846
70% more likely to get AD if have a specific gene which makes vitamin D less effective

2) The vitamin D receptor gene is associated with Alzheimer's Disease
Neurosci Lett. 2011 Oct 24;504(2):79-82. Epub 2011 Sep 3.
3X more likely to get AD if have this gene which reduces vitamin D effectiveness PMID = 21911036

3) In the United States, researchers found that the biggest modifiable risk factors of Alzheimers are
physical inactivity, depression, smoking, mid-life hypertension, mid-life obesity, low education and diabetes. ...
Note: EVERY SINGLE ONE of the above associations is also associated with low vitamin D: