The vitamin D receptor gene is associated with Alzheimer's disease

Lehmann, Donald J; Refsum, Helga; Warden,; Medway, Christopher; Wilcock, GK; Smith, A.D.

doi:10.1016/j.neulet.2011.08.057

Cited by 79 publications

(60 citation statements)

References 37 publications

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“…Our findings are in correlation with Beydoun's study, which has the largest sample size, as it observed greater cognitive decline with "Tab" haplotype (Beydoun et al 2012). On the contrary, Lehmann et al (2011) suggest VDR SNPs are also associated with AD but this association is due to "tA" haplotype, and Kuningas et al (2009) suggest "tAB" haplotype of VDR is associated with worse cognitive performance. Although limited numbers of studies have focused on VDR SNPs and AD as well as cognitive performance and PD, with albeit controversial results, these studies are highly remarkable in detecting associations between VDR SNPs and neurodegenerative disorders.…”

Section: Discussionsupporting

confidence: 88%

“…Beecham et al (2009) showed that in addition to Apolipoprotein E (APOE), there is a risk locus on 12q13 and that among the number of nearby candidate genes in this region, VDR is the most probable risk gene for developing AD according to their genome wide association (GWA) study that was conducted on 518 late-onset AD cases analyzing 555.000 SNPs. Furthermore, recent studies indicated an association between VDR polymorphisms and cognitive decline (Kuningas et al 2009;Beydoun et al 2012), AD (Lehmann et al 2011), and Parkinson's disease (PD) (Butler et al 2011).…”

Section: Tohoku University Medical Pressmentioning

confidence: 99%

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Vitamin D Receptor Gene Haplotype Is Associated with Late-Onset Alzheimer's Disease

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et al. 2012

Tohoku J. Exp. Med.

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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.

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Section: Discussionsupporting

confidence: 88%

Section: Tohoku University Medical Pressmentioning

confidence: 99%

Vitamin D Receptor Gene Haplotype Is Associated with Late-Onset Alzheimer's Disease

Gezen-Ak

Dursun

Bılgıç

et al. 2012

Tohoku J. Exp. Med.

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show abstract

“…VDR polymorphisms have been associated with age-related decline in cognition and are also a risk factor for AD [161,163,216]. Vitamin D may protect the brain by regulating the expression of those toolkit components responsible for maintain ROS and Ca 2þ levels (Fig.…”

Section: Vitamin D and Alzheimer's Disease (Ad)mentioning

confidence: 99%

Vitamin D cell signalling in health and disease

Berridge

2015

Biochemical and Biophysical Research Communications

176

130

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“…70,77 Neurons also express the vitamin D receptor (VDR) and VDR polymorphisms have been associated with Parkinson disease, 76 age-related decline in cognition and the incidence of depressive symptoms 78 and is also a risk factor for AD. 72,79 This VDR is also strongly expressed in the dopaminergic neurons in the substantia nigra, which are particularly The risk of developing Alzheimer disease might be reduced by Li + , but how this occurs is not clear. 66 As described earlier, the action of Li + in bipolar disorder may depend on its ability to reduce the activity of Ins(1,4,5)P 3 /Ca 2+ signaling (Fig.…”

Section: Alzheimer Diseasementioning

confidence: 99%