TaqI polymorphism of VDR gene in colorectal cancer and Crohn’s disease patients
M.R. Lozynska1, L.Y. Lozynska2, R.O. Pinyazhko2, I.E.Gaybonyuk3, O.R. Pinyazhko2, O.M. Fedota4
- SI ”Institute of Hereditary Pathology of National Academy of Medical Sciences of Ukraine”, Lviv, Ukraine
- Danylo Halytsky Lviv National Medical University, Ukraine
- SMDC “LeoGENE”, Lviv, Ukraine
- ”LLC ”AMS”, Kharkiv, Ukraine
DOI: https://doi.org/10.15407/fz70.04.042

Abstract
To study the relation of TaqI polymorphism of VDR gene with age, sex and the disease phenotype in patients
with colorectal cancer (CRC) and Crohn’s disease (CD) from western regions of Ukraine. Fifty six patients
with CRC, 46 patients with CD and 65 control individuals were included in this research. Assessment of
TaqI polymorphism was performed using PCR-RFLP method. The genotype-phenotype association for this
polymorphism was analyzed. The frequency of tt genotype in patients with CRC is 0.107 and among the
control group is 0.138, OR (95% CI 0.248-2.246). The ratio of genotypes TT:Tt:tt in patients with CRC and
in control was 37.5%:51.8%:10.7% and 44.6%:41.6%:13.8%. In men with Tt genotype the average age of
CRC onset was 57.6 ± 3.6 years, in women with TT genotypethe mean age of the disease onset was 54.5 ±
4.5 years. The frequency of tt genotype in the patients with CD is 0.217 and among the control group is
0.138, OR (95% CI 0.640–4.666). The Tt genotype was detected in a half of patients with CD and TT
genotype was found more frequently in control.The ratio of genotypes in men and women with CD was
38.0%:38.0%:24.0% and 20.0%:60.0%:20.0%. Among patients with CD, who underwent surgery, 33.3%
individuals were carriers of tt genotype. It was confirmed no statistically significant difference in the allele
frequencies and genotype distributions of Taq1 mutation in patients with CRC and CD in comparison to
control group. The ratio of men and women with Tt genotype by groups of B1-B3 forms of CD behaviour
according to the Montreal classification is differs, in particular, women with Tt genotype are four times
more likely to have the B1 form. A study of Taq1 mutation might contribute to the identification of the groups
that are at the greatest risk of severe form of CD.
Keywords:
VDR gene TaqI polymorphism; genotypes distribution; colorectal cancer; Crohn`s disease; sex; age at the diseases onset; disease phenotype.
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