中国年轻人群中NAT2基因多态性与骨肉瘤风险及转移的相关性
Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population.
作者信息
Huang Zhengxiang, Yuan Li, Jiang Zhenghui, Wang Dongliang
机构信息
Department of Orthopedics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, People's Republic of China.
Department of Epidemiology, School of Public Health, Fudan University, Shanghai, People's Republic of China.
出版信息
Onco Targets Ther. 2015 Sep 22;8:2675-80. doi: 10.2147/OTT.S92275. eCollection 2015.
Osteosarcoma is the most common primary malignancy of bone in young individuals. Genetic factors may play an important role in the tumorigenesis of osteosarcoma. Here we carried out a case-control study to investigate seven NAT2 single-nucleotide polymorphisms (rs1799929, rs120, rs1041983, rs1801280, rs1799930, rs1799931, and rs1801279) on the risk and prognosis of osteosarcoma. This study included 260 young osteosarcoma cases and 286 controls. The TaqMan method was used to determine genotypes. We found that rs1799931 G>A polymorphisms were associated with a decreased risk of osteosarcoma in young Chinese population, and rs1041983 CT genotype seemed to play a protective role in the risk of osteosarcoma. However, further analysis showed that rs1041983 polymorphisms were associated with an elevated risk of tumor metastasis, predicting poor prognosis. This study provided the first evidence for the associations between NAT2 polymorphisms and osteosarcoma risk and metastasis in Chinese population.
骨肉瘤是年轻个体中最常见的原发性骨恶性肿瘤。遗传因素可能在骨肉瘤的肿瘤发生中起重要作用。在此，我们进行了一项病例对照研究，以调查7个NAT2单核苷酸多态性（rs1799929、rs120、rs1041983、rs1801280、rs1799930、rs1799931和rs1801279）与骨肉瘤风险及预后的关系。本研究纳入了260例年轻骨肉瘤病例和286例对照。采用TaqMan方法确定基因型。我们发现rs1799931 G>A多态性与中国年轻人群骨肉瘤风险降低相关，rs1041983 CT基因型似乎对骨肉瘤风险起保护作用。然而，进一步分析表明，rs1041983多态性与肿瘤转移风险升高相关，提示预后不良。本研究首次提供了中国人群中NAT2多态性与骨肉瘤风险及转移之间关联的证据。
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