Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 May;23(5):341.
doi: 10.3892/etm.2022.11271. Epub 2022 Mar 22.

Association of vitamin D receptor gene TaqI polymorphism with Alzheimer's disease in a Southeastern European Caucasian population

Efthimios Dimitrakis  1 , Martha-Spyridoula Katsarou  1 , Maria Lagiou  1 , Vasiliki Papastefanopoulou  2 , Evangelia Stanitsa  3 , Demetrios A Spandidos  4 , Aristidis Tsatsakis  5 , Socratis Papageorgiou  3 , Paraskevi Moutsatsou  2 , Katerina Antoniou  6 , Christos Kroupis  2 , Nikolaos Drakoulis  1
Affiliations

Association of vitamin D receptor gene TaqI polymorphism with Alzheimer's disease in a Southeastern European Caucasian population

Efthimios Dimitrakis et al. Exp Ther Med. 2022 May.

Abstract

The role of vitamin D in Alzheimer's Disease (AD) has been studied over the past years. The results from numerous studies have indicated that the molecular pathways involved in the development of AD are closely related to the molecular pathways of the mechanisms of action of vitamin D. However, only a limited number of studies have described the key role of vitamin D receptor (VDR) in the regulation of the functions of vitamin D and the potential effect of single nucleotide polymorphisms (SNPs) of the VDR gene. Thus, the aim of the present study was to investigate the VDR TaqI polymorphism in relation to AD in a Southeastern European Caucasian (SEC) cohort. Further, the present study aimed to compare the results obtained with those of other AD populations. For this purpose, blood samples from 90 confirmed patients with AD [median age, 74 years; median mini-mental state examination (MMSE) score of 21; median frontal assessment battery (FAB) score of 10] and 103 healthy controls (median age, 57 years) were analyzed to determine the genotypes of TaqI (rs731236) using quantitative PCR. The frequencies (%) of the TaqI TT, TC and CC genotypes in the controls/patients were 34/48.9, 47.6/41.1 and 18.4/10.0, respectively. Statistically significant differences were observed for the TaqI C allele [odds ratio (OR). 0.54; 95% confidence interval (CI), 0.30-0.96; P=0.035], the TaqI TT genotype (OR, 1.86; 95% CI, 1.04-3.32; P=0.035) and the TaqI CC genotype (OR, 0.119; 95% CI, 0.014-0.995; P=0.032,) in relation to the MMSE score <21 in the patient's group. The TaqI TT allele was found to increase the risk of developing AD by 1.86-fold in the SEC population, while the TaqI C allele may act protectively, with a 46% lower risk of developing the disease. Patients with the TaqI CC genotype were found to have an 88% less likelihood of developing severe cognitive impairment based on the MMSE score. On the whole, the present study did not confirm the results of previous studies on the VDR TaqI C allele in patients with AD.

Keywords: Alzheimer's disease; MMSE; TaqI; polymorphism; vitamin D receptor.

PubMed Disclaimer

Conflict of interest statement

DAS is the Editor-in-Chief for the journal, but had no personal involvement in the reviewing process, or any influence in terms of adjudicating on the final decision, for this article. All the other authors declare that they have no competing interests.

Figures

Figure 1
Figure 1
MMSE scores in the patient cohort presented in box and whisker plot. The median MMSE value was 21. MMSE, mini-mental state examination.
Figure 2
Figure 2
Bar chart of frequencies of rs731236 genotypes in the SEC population. SEC, Southeastern European Caucasian.
Figure 3
Figure 3
Bar chart of frequencies of rs731236 genotypes from the available published studies (16-18,20-22,35).
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Global Action Plan on the Public Health Response to Dementia 2017-2025. World Health Organization, Geneva, 2017.
    1. Orme RP, Middleditch C, Waite L, Fricker RA. The Role of Vitamin D3 in the development and neuroprotection of midbrain dopamine neurons. Vitam Horm. 2016;100:273–297. doi: 10.1016/bs.vh.2015.10.007. - DOI - PubMed
    1. Wrzosek M, Łukaszkiewicz J, Wrzosek M, Jakubczyk A, Matsumoto H, Piątkiewicz P, Radziwoń-Zaleska M, Wojnar M, Nowicka G. Vitamin D and the central nervous system. Pharmacol Rep. 2013;65:271–278. doi: 10.1016/s1734-1140(13)71003-x. - DOI - PubMed
    1. Littlejohns TJ, Henley WE, Lang IA, Annweiler C, Beauchet O, Chaves PH, Fried L, Kestenbaum BR, Kuller LH, Langa KM, et al. Vitamin D and the risk of dementia and Alzheimer disease. Neurology. 2014;83:920–928. doi: 10.1212/WNL.0000000000000755. - DOI - PMC - PubMed
    1. Afzal S, Bojesen SE, Nordestgaard BG. Reduced 25-hydroxyvitamin D and risk of Alzheimer's disease and vascular dementia. Alzheimers Dement. 2014;10:296–302. doi: 10.1016/j.jalz.2013.05.1765. - DOI - PubMed