Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2014) 35 P122 | DOI: 10.1530/endoabs.35.P122

ECE2014 Poster Presentations Calcium and Vitamin D metabolism (68 abstracts)

Frequency of BsmI polymorphism of vitamin D receptor gene and its association with 25-hydroxyvitamin D levels

Huseyin Babur 1 , Ahmet Kaya 2 , Elif Turan 2 , Ilker Polat 3 , Mustafa Kulaksizoğlu 2 , Mahmut Selman Yıldırım 4 & Aysegul Zamani 4


1Department of Internal Medicine, Dr Vefa Tanir Ilgin State Hospital, Konya, Turkey; 2Department of Endocrinology and Metabolism, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey; 3Department of Internal Medicine, Afyonkarahisar State Hospital, Afyon, Turkey; 4Department of Medical Genetics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.


Introduction: Vitamin D deficiency has become a major public health problem. It’s known that the effects of vitamin D are made by its receptors. VDR gene polymorphisms in susceptibility to different diseases demonstrated in many studies. The polymorphisms of VDR are ApaI, TaqI, FokI, and BsmI. BsmI is the most extensively studied polymorphism. In our study, the aim is to show the frequency of VDR BsmI gene polymorphisms and to show the relationship between polymorphisms and vitamin D levels.

Design: All population were divided into two groups which are 100 osteoporotic and 100 non-osteoporotic. The demographic characteristics were recorded. In blood samples vitamin D, calcium, phosphorus, and alkaline phosphatase; in urine samples urinary calcium, urinary creatinine were studied. In addition, approximately 2 cc of peripheral blood sample was taken for DNA isolation and VDR BsmI polymorphisms were studied by real-time PCR method and comparisons were made between the groups.

Results: In all of population BB genotype 17%, Bb genotype 50.5%, and bb genotype 32.5% were found. In osteoporotic grup BB genotype 16%, Bb genotype 48%, and bb genotype 36% were found. In non-osteoporotic grup BB genotype 18%, Bb genotype 53%, and bb genotype 29% were found. There was no statistically significant difference between groups. The level of vitamin D was 18.10 ng/ml in BB genotype, 17.08 ng/ml in Bb genotype, and 16.34 ng/ml in bb genotype. There was no statistically significant difference between genotypes.

Conclusion: There was no statistically significant relationship between genotypes and vitamin D levels and also was no statistically significant relationship of VDR gene BsmI polymorphisms between two groups. Serious vitamin D deficiency was detected in both groups and the whole population.

Keywords: Vitamin D receptor gene, BsmI, vitamin D, polymorphism.

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