Jin Tianbo, Wang Yuan, Li Gang, Du Shuli, Yang Hua, Geng Tingting, Hou Peng, Gong Yongkuan
Key Laboratory of Synthetic and Natural Functional Molecule Chemistry of Ministry of Education, College of Chemistry and Materials Science, Northwest University Xi'an 710069, China ; National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University Xi'an 710069, China.
Department of Trauma, The Second Affiliated Hospital, Inner Mongolia Medical University Hohhot 010030, China.
Am J Cancer Res. 2015 Jun 15;5(7):2294-300. eCollection 2015.
Gliomas are the most common aggressive brain tumors and have many complex pathological types. Previous reports have discovered that genetic mutations are associated with the risk of glioma. However, it is unclear whether uniform genetic mutations exist difference between glioma and its two pathological types in the Han Chinese population.
We evaluated 20 SNPs of 703 glioma cases (338 astrocytoma cases, 122 glioblastoma cases) and 635 controls in a Han Chinese population using χ(2) test and genetic model analysis.
In three case-control studies, we found rs9288516 in XRCC5 gene showed a decreased risk of glioma (OR, 0.85; 95% CI, 0.73-0.99; P = 0.042) and glioblastoma (OR, 0.70; 95% CI, 0.52-0.92; P = 0.001) in the allele model. We identified rs414805 in RPA3 gene showed an increased risk of glioblastoma in allele model (OR, 1.38; 95% CI, 1.00-1.89; P = 0.047) and dominant model (OR, 1.57; 95% CI, 1.05-2.35; P = 0.027), analysis respectively. Meanwhile, rs2297440 in RTEL1 gene showed an increased risk of glioma (OR, 1.30; 95% CI, 1.10-1.54; P = 0.002) and astrocytoma (OR, 1.26; 95% CI, 1.02-1.54; P = 0.029) in the allele model. In addition, we also observed a haplotype of "GCT" in the RTEL1 gene with an increased risk of astrocytoma (P = 0.005).
Polymorphisms in the XRCC5, RPA3 and RTEL1 genes, combinating with previous reaserches, are associated with glioma developing. However, those genes mutations may play different roles in the glioma, astrocytoma and glioblastoma, respectively.
胶质瘤是最常见的侵袭性脑肿瘤,有许多复杂的病理类型。既往报道发现基因突变与胶质瘤风险相关。然而,在汉族人群中,胶质瘤及其两种病理类型之间的统一基因突变是否存在差异尚不清楚。
我们在汉族人群中,使用χ²检验和遗传模型分析,评估了703例胶质瘤病例(338例星形细胞瘤病例,122例胶质母细胞瘤病例)和635例对照的20个单核苷酸多态性(SNP)。
在三项病例对照研究中,我们发现XRCC5基因中的rs9288516在等位基因模型中显示胶质瘤风险降低(比值比[OR],0.85;95%置信区间[CI],0.73 - 0.99;P = 0.042)和胶质母细胞瘤风险降低(OR,0.70;95% CI,0.52 - 0.92;P =
0.001)。我们确定RPA3基因中的rs414805在等位基因模型(OR,1.38;95% CI,1.00 - 1.89;P = 0.047)和显性模型(OR,1.57;95% CI,1.05 - 2.35;P = 0.027)中分别显示胶质母细胞瘤风险增加。同时,RTEL1基因中的rs2297440在等位基因模型中显示胶质瘤风险增加(OR,1.30;95% CI,1.10 - 1.54;P = 0.002)和星形细胞瘤风险增加(OR,1.26;95% CI,1.02 - 1.5
4;P = 0.029)。此外,我们还观察到RTEL1基因中的一个“GCT”单倍型与星形细胞瘤风险增加相关(P = 0.005)。
XRCC5、RPA3和RTEL1基因的多态性,结合既往研究,与胶质瘤的发生相关。然而,这些基因突变可能在胶质瘤、星形细胞瘤和胶质母细胞瘤中分别发挥不同作用。