摘要：

目的 探讨中国人群血管内皮细胞生长因子受体2（VEGFR2）多态性与胶质瘤发生风险之间的潜在关联性。方法 采用病例-对照研究方法，对504 例胶质瘤患者和527 例对照者进行血液样本和病历资料收集，以及流行病学问卷调查。Qiagen Blood 试剂盒行DNA 提取和浓度标化、分装，MassARRAY 系统等位基因特异性基质辅助激光解析离子化-时间飞跃质谱法完成VEGFR2 rs2071559基因分型，HaploView 4.1 统计软件检验Hardy-Weinberg 遗传平衡状态，SPSS 17.0 统计软件分析单核苷酸多态性差异。结果 （1）单核苷酸多态性基因分型，VEGFR2 rs2071559 分型成功率达99.70%，Hardy-Weinberg 遗传平衡检验表明对照组VEGFR2 rs2071559 基因型频率处于平衡状态（P = 0.451），具有群体代表性。（2）等位基因频率分析，VEGFR2 rs2071559 之C 等位基因是胶质瘤危险等位基因，与胶质瘤风险增加有关（OR = 1.424，95%CI：1.186 ~ 1.710；P = 0.000）。（3）基因型分析，VEGFR2 rs2071559 之CT 和CC 基因型与胶质瘤风险增加有关（校正OR = 1.407，95%CI：1.071 ~ 1.847，P = 0.014；校正OR = 1.947，95%CI：1.294 ~ 2.928，P = 0.001）。结论 中国人群VEGFR2 rs2071559 之CT 和CC 基因型或C 等位基因与胶质瘤风险增加有关，但VEGFR2 rs2071559多态性在胶质瘤易感性中的作用尚待进一步研究。

关键词: 神经胶质瘤, 血管内皮生长因子受体2, 基因, 多态现象, 遗传

Abstract:

Objective  To investigate the potential association between vascular endothelial growth factor receptor 2 (VEGFR2) polymorphisms and risk of glioma in Chinese population.  Methods  In this study, blood samples and clinical materials were collected from 504 patients with glioma and 527 gender- and age-matched controls, and epidemiological questionnaire surveys were conducted on them. DNA was extracted from collected blood samples and VEGFR2 rs2071559 genotyping was performed with MassARRAY Sequenom single nucleotide polymorphism (SNP) time-of-flight mass spectra chip system. HaploView 4.1 was used to test Hardy-Weinberg equilibrium (HWE) and SPSS 17.0 was used for single locus analysis.  Results  The results of SNP genotyping showed that the genotyping ratio of VEGFR2 rs2071559 was 99.70%. HWE suggested that the genotype frequency of the controls was in balance (P = 0.451) and was representative of the population. The analysis of allele frequency showed that C allele of VEGFR2 rs2071559 was risk allele of glioma. It could increase the risk of glioma (OR = 1.424, 95%CI: 1.186-1.710; P = 0.000). The analysis of genotype suggested that individuals with VEGFR2 rs2071559 CT or CC genotype showed increased risk of glioma (adjusted OR = 1.407, 95% CI: 1.071-1.847, P = 0.014; adjusted OR = 1.947, 95%CI: 1.294-2.928, P = 0.001).  Conclusions  This study indicated that CT and CC genotypes or C allele of VEGFR2 rs2071559 were associated with increased risk of glioma in Chinese population. The role of VEGFR2 rs2071559 polymorphism in glioma susceptibility needs further investigation.

Key words: Glioma, Vascular endothelial growth factor receptor-2, Genes, Polymorphism, genetic