Naumov V A, Generozov E V, Solovyov Yu N, Aliev M D, Kushlinsky N E
Institute of Physicochemical Medicine, Federal Biomedical Agency of Russia, Moscow, Russia.
Bull Exp Biol Med. 2012 Oct;153(6):869-73. doi: 10.1007/s10517-012-1847-9.
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.
在一组具有不同组织学结构的骨肿瘤患者(n = 68)和正常受试者对照组(n = 96)中,对6个候选单核苷酸多态性(rs7921、rs7956547、rs3761243、rs11737764、rs6599400、rs1690916)进行了关联研究。检测到rs6599400和rs1690916多态性与疾病风险存在显著关联(优势比分别为2.15 [1.06 - 4.24]和0.39 [0.19 - 0.78])。这些多态性位于未翻译的基因组区域:rs6599400多态性位于成纤维细胞生长因子3受体基因(FGFR3)的5'区域,rs1690916位于小鼠MDM2 p53结合蛋白同源物(MDM2)的3'区域。这些数据表明遗传因素在骨肉瘤易感性形成中可能发挥作用,并证实了先前的研究结果,即这些基因应被视为参与肿瘤发展(包括骨和软骨组织肿瘤)的最可能因素之一。