RTEL1 标签 SNPs 和单倍型与神经胶质瘤的发展有关。
RTEL1 tagging SNPs and haplotypes were associated with glioma development.
机构信息
Department of Neurosurgery, Tangdu hospital, the Fourth Military Medical University, Xi'an, 710038, China.
出版信息
Diagn Pathol. 2013 May 17;8:83. doi: 10.1186/1746-1596-8-83.
UNLABELLED
As glioma ranks as the first most prevalent solid tumors in primary central nervous system, certain single-nucleotide polymorphisms (SNPs) may be related to increased glioma risk, and have implications in carcinogenesis. The present case-control study was carried out to elucidate how common variants contribute to glioma susceptibility. Ten candidate tagging SNPs (tSNPs) were selected from seven genes whose polymorphisms have been proven by classical literatures and reliable databases to be tended to relate with gliomas, and with the minor allele frequency (MAF)>5% in the HapMap Asian population. The selected tSNPs were genotyped in 629 glioma patients and 645 controls from a Han Chinese population using the multiplexed SNP MassEXTEND assay calibrated. Two significant tSNPs in RTEL1 gene were observed to be associated with glioma risk (rs6010620, P=0.0016, OR: 1.32, 95% CI: 1.11-1.56; rs2297440, P=0.001, OR: 1.33, 95% CI: 1.12-1.58) by χ2 test. It was identified the genotype "GG" of rs6010620 acted as the protective genotype for glioma (OR, 0.46; 95% CI, 0.31-0.7; P=0.0002), while the genotype "CC" of rs2297440 as the protective genotype in glioma (OR, 0.47; 95% CI, 0.31-0.71; P=0.0003). Furthermore, haplotype "GCT" in RTEL1 gene was found to be associated with risk of glioma (OR, 0.7; 95% CI, 0.57-0.86; Fisher's P=0.0005; Pearson's P=0.0005), and haplotype "ATT" was detected to be associated with risk of glioma (OR, 1.32; 95% CI, 1.12-1.57; Fisher's P=0.0013; Pearson's P=0.0013). Two single variants, the genotypes of "GG" of rs6010620 and "CC" of rs2297440 (rs6010620 and rs2297440) in the RTEL1 gene, together with two haplotypes of GCT and ATT, were identified to be associated with glioma development. And it might be used to evaluate the glioma development risks to screen the above RTEL1 tagging SNPs and haplotypes.
VIRTUAL SLIDES
The virtual slides for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1993021136961998.
目的
阐明常见变异如何导致胶质瘤易感性。
方法
采用多重 SNP MassEXTEND 分析对来自汉族人群的 629 例胶质瘤患者和 645 例对照进行了 10 个候选标签 SNP（tSNP）的基因分型，这些 SNP 是从已被经典文献和可靠数据库证明与胶质瘤相关的 7 个基因中选择的，且在 HapMap 亚洲人群中的次要等位基因频率（MAF）>5%。
结果
rs6010620（P=0.0016，OR：1.32，95%CI：1.11-1.56）和 rs2297440（P=0.001，OR：1.33，95%CI：1.12-1.58）在 RTEL1 基因中的两个 tSNP 与胶质瘤风险相关，经 χ2 检验。rs6010620 的“GG”基因型被确定为胶质瘤的保护性基因型（OR，0.46；95%CI，0.31-0.7；P=0.0002），而 rs2297440 的“CC”基因型在胶质瘤中为保护性基因型（OR，0.47；95%CI，0.31-0.71；P=0.0003）。此外，在 RTEL1 基因中发现“GCT”单倍型与胶质瘤风险相关（OR，0.7；95%CI，0.57-0.86；Fisher's P=0.0005；Pearson's P=0.0005），而“ATT”单倍型与胶质瘤风险相关（OR，1.32；95%CI，1.12-1.57；Fisher's P=0.0013；Pearson's P=0.0013）。
结论
RTEL1 基因中的两个单变体（rs6010620 的“GG”基因型和 rs2297440 的“CC”基因型）以及 GCT 和 ATT 两个单倍型与胶质瘤的发生有关，这可能用于评估胶质瘤的发病风险，筛选上述 RTEL1 标记 SNP 和单倍型。
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