Abstract
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.
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Abbreviations
- CD:
-
Crohn’s disease
- IBD:
-
inflammatory bowel disease
- GIT:
-
gastrointestinal tract
- GWAS:
-
genome-wide association studies
- HWE:
-
Hardy-Weinberg equilibrium
- RFLP:
-
restriction fragment length polymorphism
- SNPs:
-
single nucleotide polymorphism(s)
- UC:
-
Ulcerative colitis
- VD:
-
vitamin D
- VDR:
-
vitamin D Receptor
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Acknowledgements
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.
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Stuchlíková, M., Hlavatý, T., Ďuriš, F. et al. The relationship between selected VDR gene polymorphisms and susceptibility to inflammatory bowel disease in Slovak population. Biologia 74, 573–581 (2019). https://doi.org/10.2478/s11756-019-00212-3
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DOI: https://doi.org/10.2478/s11756-019-00212-3