title: Association of FGFR3 and MDM2 gene nucleotide polymorphisms with bone tumors.
abstract: Association study of 6 candidate single-nucleotide polymorphisms (rs7921, rs7956547, rs3761243, rs11737764, rs6599400, rs1690916) was carried out in a group of patients with bone tumors of different histological structure (n=68) and control group of normal subjects (n=96). Significant associations of rs6599400 and rs1690916 polymorphisms with disease risk were detected (odds ratio 2.15 [1.06-4.24] and 0.39 [0.19-0.78], respectively). These polymorphisms were located in untranslated genome regions: polymorphism rs6599400 in the 5' region of fibroblast growth factor-3 receptor gene (FGFR3), rs1690916 in the 3' region of mouse MDM2 p53-binding protein homolog (MDM2). These data indicated a possible role of hereditary genetic factors in the formation of predisposition to bone sarcomas and confirmed previous findings according to which these genes should be regarded among the most probable factors involved in tumor development, including tumors of the bone and cartilage tissues.
authors.affiliation: Institute of Physicochemical Medicine, Federal Biomedical Agency of Russia, Moscow, Russia.
authors.forename: V A
authors.initials: VA
authors.lastname: Naumov
authors.forename: E V
authors.initials: EV
authors.lastname: Generozov
authors.forename: Yu N
authors.initials: YN
authors.lastname: Solovyov
authors.forename: M D
authors.initials: MD
authors.lastname: Aliev
authors.forename: N E
authors.initials: NE
authors.lastname: Kushlinsky
mesh_terms: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D000293:Adolescent; D000328:Adult; D000483:Alleles; D000818:Animals; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D002813:Chondrosarcoma / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D051379:Mice; D008875:Middle Aged; D016017:Odds Ratio; D012516:Osteosarcoma / Q000235:genetics* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D051736:Proto-Oncogene Proteins c-mdm2 / Q000235:genetics*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; C497206:MDM2 protein, human; D051736:Proto-Oncogene Proteins c-mdm2; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3