Wang Xinyu, Zhang Huawei, Wang Donghai, Li Xingang
1 Department of Neurosurgery, Qilu Hospital of Shandong University , Jinan, China .
Genet Test Mol Biomarkers. 2015 Jan;19(1):59-62. doi: 10.1089/gtmb.2014.0228.
Several studies indicated that genetic polymorphisms in the epidermal growth factor receptor (EGFR) gene were associated with glioma risk. However, the relationship between EGFR genetic polymorphisms and glioma remains unclear in the Chinese population.
We designed a case-control study by selecting 300 histologically confirmed adult glioma patients and 300 cancer-free controls to analyze the distribution of EGFR genotype. Two single-nucleotide polymorphisms, rs730437 and rs1468727, were genotyped by using the polymerase chain reaction-restriction fragment length polymorphism method.
We found that the CC genotype of rs1468727 was more common in the glioma group than in the control group (p=0.021). We also found that the C allele frequency was higher in the glioma group than that in the control group (p=0.005; odds ratio [OR]=1.38, 95% confidence interval [CI]: 1.101-1.740). For rs730437, we found both the AA genotype (p=0.011) and A allele frequency (p=0.003; OR=0.703; 95% CI: 0.558-0.886) were significantly lower in the glioma patients than in the control subjects, respectively. Haplotype analysis showed that the A T haplotype frequency was higher in the control group than in the glioma group (p=0.005; OR=0.722; 95% CI: 0.575-0.908). However, the CC haplotype frequency was higher in the glioma group than in the control group (p=0.003; OR=1.423; 95% CI: 1.129-1.793).
Our study indicates that polymorphisms in the EGFR gene are associated with glioma susceptibility in the Chinese population.
多项研究表明，表皮生长因子受体（EGFR）基因的遗传多态性与胶质瘤风险相关。然而，在中国人群中，EGFR基因多态性与胶质瘤之间的关系仍不明确。
我们设计了一项病例对照研究，选取300例经组织学确诊的成年胶质瘤患者和300例无癌对照，分析EGFR基因型的分布。采用聚合酶链反应-限制性片段长度多态性方法对两个单核苷酸多态性位点rs730437和rs1468727进行基因分型。
我们发现，rs1468727的CC基因型在胶质瘤组中比对照组更常见（p = 0.021）。我们还发现，胶质瘤组的C等位基因频率高于对照组（p = 0.005；优势比[OR]=1.38，95%置信区间[CI]：1.101 - 1.740）。对于rs730437，我们发现胶质瘤患者的AA基因型（p = 0.011）和A等位基因频率（p = 0.003；OR = 0.703；95% CI：0.558 - 0.886）分别显著低于对照组。单倍型分析显示，对照组的A T单倍型频率高于胶质瘤组（p = 0.005；OR = 0.722；95% CI：0.575 - 0.908）。然而，胶质瘤组的CC单倍型频率高于对照组（p = 0.003；OR = 1.423；95% CI：1.129 - 1.793）。
我们的研究表明，EGFR基因多态性与中国人群的胶质瘤易感性相关。
