Endocrine Abstracts (2014) 35 P127 | DOI: 10.1530/endoabs.35.P127

VDR gene polymorphisms in Alzheimer's disease: pilot study

Lukasz Laczmanski1, Marta Jakubik2, Joanna Rymaszewska2, Grażyna Bednarek-Tupikowska1, Felicja Lwow3, Natalia Słoka1 & Andrzej Milewicz1


1Department of Endocrinology, Wrocław Medical University, Wrocław, Poland; 2Department of Psychiatry, Wrocław Medical University, Wrocław, Poland; 3Department of Health Promotion, Faculty of Physiotherapy, University School of Physical Education, Wrocław, Poland.


Aggravation of the symptoms of Alzheimer’s disease may also underlie the functioning of receptors associated with calcium and vitamin D. Therefore, it seems reasonable to study the correlation of polymorphisms of vitamin D receptor (VDR) and calcium receptor (CASR) with symptoms of AD. Alzheimer’s disease, vitamin D deficiency and osteoporosis often coexist in the patient. Research suggests that vitamin D deficiency is much more frequent in the patients with AD. Expression of VDR gene occurs in a neuronal and a glial cells. VDR belongs to the nuclear receptor superfamily and acts as a ligand activated transcription factor.

During the project it was selected a 40 patients and a group of 40 healthy volunteers. There are many polymorphisms in the VDR gene. In the present work we focused on assessing the prevalence of four of them relating to the regulation of expression of this gene: TaqI, ApaI, FokI and BsmI.

Distribution of all polymorphisms were obtained according to Hardy–Weinberg low (ApaI: χ2=2.54, P=0.1111, TaqI: χ2=1.21, P=0.2412, BsmI: χ2=0.57, P=0.4490, and FokI: χ2=1.23, P=0.2680).

We didn’t observe any significant differences in the distribution of individual genotypes of the VDR polymorphisms in patients with Alzheimer’s disease compared to control group.

Project requires further research with a larger group of patients and control group.

The project was funded by the National Science Centre, grant number. UMO-2011/01/B/NZ7/00656.

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