Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
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Advances in Clinical and Experimental Medicine

2019, vol. 28, nr 7, July, p. 955–960

doi: 10.17219/acem/97376

Publication type: original article

Language: English

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Vitamin D receptor (VDR) TaqI polymorphism, vitamin D and bone mineral density in patients with inflammatory bowel diseases

Aleksandra Szymczak-Tomczak1,A,B,D, Iwona Krela-Kaźmierczak1,A,B,D, Marta Kaczmarek-Ryś2,B,C, Szymon Hryhorowicz2,B,C, Kamila Stawczyk-Eder1,B,D, Marlena Szalata3,B, Marzena Skrzypczak-Zielińska3,C, Liliana Łykowska-Szuber1,B, Piotr Eder1,E,F, Michał Michalak4,C, Agnieszka Dobrowolska1,E,F, Ryszard Słomski2,3,E,F

1 Department of Gastroenterology, Human Nutrition and Internal Medicine, Poznan University of Medical Sciences, Poland

2 Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland

3 Department of Biochemistry and Biotechnology, Poznan University of Life Sciences, Poland

4 Department of Computer Sciences and Statistics, Poznan University of Medical Sciences, Poland

Abstract

Background. A common feature in the etiology of inflammatory bowel disease (IBD) and osteoporosis is a complex genetic background. Moreover, it has been shown that some of the susceptibility loci overlap for both diseases. One of the genes that may be involved in the pathogenesis of IBD as well as decreased bone mass is the vitamin D receptor (VDR) gene.
Objectives. The aim of this study was to investigate the association of the TaqI polymorphism (rs731236, c.1056T >C) in the VDR gene with serum vitamin D concentration and bone mineral density (BMD) in patients with IBD.
Material and Methods. A total of 172 IBD patients (85 with Crohn’s disease (CD) and 87 with ulcerative colitis (UC)) and 39 healthy controls were enrolled in the study. Polymorphism was determined with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Bone mineral density was measured at the lumbar spine (L2–L4) and the femoral neck (FN) using dual-energy x-ray absorptiometry (DEXA). Serum concentrations of 25-hydroxyvitamin D were determined using electrochemiluminescence binding assay (ECLIA).
Results. Our studies revealed that serum vitamin D concentration in IBD patients was not lowered in comparison with healthy controls. Patients with CD presented more advanced osteopenia and osteoporosis. Individuals with UC carrying the TaqI tt genotype of VDR gene showed significantly higher FN BMD than carriers of TT and Tt genotypes (p = 0.02). Moreover, tt genotype was present with higher frequency in UC patients than in controls and CD patients (23% vs 7.7% and 16.5%, respectively).
Conclusion. The tt genotype may have a protective effect on BMD in UC patients.

Key words

vitamin D, bone mineral density, inflammatory bowel diseases, vitamin D receptor gene polymorphism

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