, Volume 74, Issue 5, pp 573–581 | Cite as

The relationship between selected VDR gene polymorphisms and susceptibility to inflammatory bowel disease in Slovak population

  • Martina StuchlíkováEmail author
  • Tibor Hlavatý
  • František Ďuriš
  • Juraj Javor
  • Anna Krajčovičová
  • Daniel Kuba
  • Katarína Šoltýs
  • Hana Drahovská
  • Ján Turňa
  • Stanislav Stuchlík
Original Article


Ulcerative colitis (UC) and Crohn’s disease (CD) are the two main forms of inflammatory bowel disease (IBD). IBD is thought to result from an inappropriate and continuing inflammatory response to commensal microbes in a genetically susceptible host. One of hundreds independent SNPs connected to IBD pathogenesis are considered polymorphisms in the gene for vitamin D receptor (VDR). The purpose of the study was to investigate the association of VDR gene polymorphisms FokI, BsmI, ApaI, TaqI with disease susceptibility in 86 Slovak UC and 122 CD patients and in 155 controls. The distribution of VDR (FokI, BsmI, ApaI and TaqI) alleles and genotype variants in Slovak healthy population is analogous to those of other Caucasoid populations. The distributions of FokI genotypes in CD patients showed significant Hardy-Weinberg equilibrium (HWE) deviation (P = 0.0062) with considerable shortage of heterozygosity compared to controls (36.89 vs. 47.67%; OR = 0.5479; 95%CI = 0.3376–0.8892). We did not find any significant association of FokI, BsmI, ApaI and TaqI variants with localisation of UC or CD manifestation as well as the age of onset in case of Crohn’s disease. Our study showed for the first time in Slovak population that the FokI polymorphism can be involved in susceptibility to Crohn’s disease development. However, we did not find any association of FokI, BsmI, ApaI and TaqI SNPs with clinical features of CD and UC.


VDR gene polymorphisms Vitamin D Inflammatory bowel disease Crohn’s disease Ulcerative colitis 



Crohn’s disease


inflammatory bowel disease


gastrointestinal tract


genome-wide association studies


Hardy-Weinberg equilibrium


restriction fragment length polymorphism


single nucleotide polymorphism(s)


Ulcerative colitis


vitamin D


vitamin D Receptor



This publication is supported by grant APVV-0672-11 of the Slovak Research and Development Agency and is also result of the projects implementation: (ITMS 26240120027) and (ITMS 26240220048) supported by the Operational Programme of R&D funded by the European Regional Development Fund. Authors would like to thank also to Dr. D. Baláková for providing the part of the set of blood DNA samples from CD patients.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.


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Copyright information

© Institute of Molecular Biology, Slovak Academy of Sciences 2019

Authors and Affiliations

  • Martina Stuchlíková
    • 1
    • 2
    Email author
  • Tibor Hlavatý
    • 3
  • František Ďuriš
    • 4
  • Juraj Javor
    • 5
  • Anna Krajčovičová
    • 3
  • Daniel Kuba
    • 2
  • Katarína Šoltýs
    • 1
  • Hana Drahovská
    • 1
  • Ján Turňa
    • 1
    • 6
  • Stanislav Stuchlík
    • 1
    • 6
  1. 1.Department of Molecular Biology, Faculty of Natural SciencesComenius UniversityBratislavaSlovakia
  2. 2.National Transplantation OrganizationBratislavaSlovakia
  3. 3.Department of Internal Medicine, Faculty of Medicine, Division of GastroenterologyComenius University Bratislava and University hospital BratislavaBratislavaSlovakia
  4. 4.Department of Computer Science, Faculty of Mathematics, Physics and InformaticsComenius University in BratislavaBratislavaSlovakia
  5. 5.Department of Immunology, Faculty of MedicineComenius UniversityBratislavaSlovakia
  6. 6.Comenius UniversityBratislavaSlovakia

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