title: VDR gene single nucleotide polymorphisms and their association with risk of oral cavity carcinoma.
abstract: Vitamin D3 (1,25(OH)2D3 (1,25-dihydroxyvitamin D3)) is a hormone playing a crucial role in numerous biological processes in the human body, including induction and control of cell proliferation and differentiation. Numerous data relate the vitamin D3 level with various types of cancer. It has been suggested that SNPs in the vitamin D3 receptor (VDR) gene might influence both the risk of cancer occurrence and cancer progression. The aim of this study was to search for genetic correlations between individual SNPs in the VDR gene and the risk of oral cavity carcinoma. Two SNPs were selected based on the literature and our previous results. Seventy-three patients with squamous cell carcinoma of the head and neck and one hundred control subjects were investigated. Two SNPs in the VDR gene were genotyped in minisequencing reactions followed by capillary electrophoresis. Hardy-Weinberg equilibrium (HWE), the χ(2) test and logistic regression were used for statistical analysis. The SNP rs2238135 in the VDR gene displayed statistical differences in frequency between the tested groups (p=0,0007). Furthermore, the G/C genotype of the rs2238135 in the VDR gene was characterized by a 3.16 fold increased risk of oral cavity carcinoma. The obtained results provide evidence for a genetic association between rs2238135 in the VDR gene and the occurrence and risk of oral cavity cancer.
authors.affiliation: Department of Forensic Medicine, Molecular Technique Unit, Wrocław Medical University, Wrocław, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Małodobra-Mazur
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Paduch
authors.forename: Arleta
authors.initials: A
authors.lastname: Lebioda
authors.forename: Maria
authors.initials: M
authors.lastname: Konopacka
authors.forename: Jacek
authors.initials: J
authors.lastname: Rogoliński
authors.forename: Cezary
authors.initials: C
authors.lastname: Szymczyk
authors.forename: Janusz
authors.initials: J
authors.lastname: Wierzgoń
authors.forename: Adam
authors.initials: A
authors.lastname: Maciejewski
authors.forename: Ewa
authors.initials: E
authors.lastname: Chmielik
authors.forename: Anna
authors.initials: A
authors.lastname: Jonkisz
authors.forename: Stanisław
authors.initials: S
authors.lastname: Półtorak
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Dobosz
mesh_terms: D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000235:genetics / Q000473:pathology; D002762:Cholecalciferol / Q000235:genetics / Q000378:metabolism; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D009055:Mouth / Q000378:metabolism / Q000473:pathology; D009062:Mouth Neoplasms / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D012307:Risk Factors
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human; D002762:Cholecalciferol