中国人群VEGFR2 rs2071559与胶质瘤风险的潜在关联性研究

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,Mass ARRAY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,Haplo View 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。

Possible association between polymorphisms of VEGFR2 rs2071559 and glioma risk in Chinese population

Objective To investigate the potential association between vascular endothelial growthfactor receptor 2（VEGFR2） polymorphisms and risk of glioma in Chinese population.MethodsIn thisstudy, 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 wasextracted from collected blood samples and VEGFR2 rs2071559 genotyping was performed withMass ARRAY Sequenom single nucleotide polymorphism（SNP） time- of- flight mass spectra chip system.Haplo View 4.1 was used to test Hardy- Weinberg equilibrium（HWE） and SPSS 17.0 was used for singlelocus analysis.ResultsThe results of SNP genotyping showed that the genotyping ratio of VEGFR2rs2071559 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 ofVEGFR2 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）.ConclusionsThis study indicated that CT and CC genotypes or C allele of VEGFR2 rs2071559 were associated with increased risk of glioma in Chinesepopulation. The role of VEGFR2 rs2071559 polymorphism in glioma susceptibility needs furtherinvestigation.