VITAMIN D AND UROLITHIASIS IN CHILDREN

Background. Urolithiasis is currently one of the topical issues of contemporary urology and medicine in general. This is primarily due to the high prevalence of urolithiasis; according to several population studies it ranges from 3.5 to 9.6%. At the same time, there is a steady increase in its incidence. Therefore, the matter of urolithiasis is one of the most urgent in present-day medicine. Objectives. The aim of the research was to study the content of a polymorphic genetic marker of the vitamin D receptor gene related to development and relapse of urolithiasis in children. Methods. The content of a polymorphic genetic marker of the vitamin D receptor gene related to development and relapse of urolithiasis in 100 children was investigated. Results. The results of the study prove that the vitamin D receptor gene assists in revealing disorders that promote urolithiasis development. Conclusion. Comparative analysis of the frequency of distribution of Fok1 genotypes of the vitamin D receptor gene polymorphism showed that statistical significance of the association (p=0.02) of f allele according to the dominant inheritance model (total Ff+ff genotypes) was established in the group of patients with urolithiasis compare to the corresponding indicator of the control group (63%).

Vitamin D Receptor Gene Polymorphisms and the Risk of Chronic Hepatitis C Related Hepatocellular Carcinoma in Egyptian Population

Background: Small percentage of hepatitis C (HCV) patients develop hepatocellular carcinoma (HCC) during their lifetime, suggesting that genetic factors might modulate HCC development. Numerous variations on the vitamin D receptor gene (VDR) have been recognized in human cancers. The majority of them cause VDR to be unable to bind to 1, 25-OH-D. The aim of the present work was to investigate the relation of VDR FokI (rs2228570), BsmI (rs3782905) and ApaI (rs7975232) gene polymorphisms and the risk of HCC development in chronic HCV Egyptian patients. Methods: A total of 311 Egyptian patients were enrolled for this study. They were divided into 3 groups: 103 patients with liver Cirrhosis, 107 patients with HCC and 101 normal healthy subjects as the control group. Human genomic DNA Extraction was carried out using QIAamp® DNA Blood Mini Kit (QIAGEN) Genotyping of VDR ApaI (rs7975232) single nucleotide polymorphism (SNP) was carried out using real-time PCR TaqMan allelic discrimination assay with allele-specific designed fluorescent MGB probes. Results: Patients with HCC had a higher frequency of ApaI CC genotype (P=0.035) CI (0.031-0.038). Patients with HCC carried a higher ratio of ApaI CC genotype compared to those with liver cirrhosis (x2=5.4 and P = 0.03) or controls (x2=6.8 and P = 0.01). Univariate analysis revealed that age, lower platelet count (<150×103/μL), higher AFP (>100 ng/ml), and ApaI CC genotype were the factors significantly associated with the development of HCC. Stepwise logistic regression analysis showed that all were independent predictors. Conclusion: ApaI CC VDR gene mutation is an independent risk factor for HCC development in Egyptian Cirrhotic HCV patients.