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[目的]分析神经母细胞瘤、多形性胶质母细胞瘤、尤文肉瘤及肾母细胞瘤全基因组关联研究(GWAS)英文文献的数据构成特征。[方法]对国际最新GWAS研究数据库之一——美国国立人类基因组研究所(National Human Genome Research Institute,NHGRI)数据库2008年11月25日至2013年8月26日收录的神经母细胞瘤、多形性胶质母细胞瘤、尤文肉瘤和肾母细胞瘤相关文献基本特征、第一阶段样本量、二阶段样本量、染色体区域相关单核苷酸多肽性(SNP)、对照组相关风险等位基因频率、P值文献中最强SNP、优势比(odds ratio,OR)或β相关系数和实验平台及检测SNP数量8项数据进行分析。[结果]共检索7篇4种肿瘤GWAS研究文献(神经母细胞瘤3篇,多形性胶质母细胞瘤1篇,尤文肉瘤1篇和肾母细胞瘤1篇),涉及27个SNP(神经母细胞瘤10个,多形性胶质母细胞瘤1个,尤文肉瘤3个,肾母细胞瘤13个),以在Nat Genet发表的文献最多。文献第一阶段病例组样本量从315例增加到2101例,对照组从1879例增加到3851例;第二阶段病例组样本量从434例增加到1488例,对照组从199例增加到3851例。染色体区域相关SNP以2、5、6和11号居多。对照组相关风险等位基因频率以0.40~组最多,未发现稀有变异。最强SNP相关风险等位基因P值以1×10-10~为主,最小P值为2×10-26。OR或β相关系数范围为1.23~2.64。研究平台以Illumina为主,占85.71%。检测SNP数量从286 966个到599 255个。[结论]2、5、6和11号染色体区域SNP多态性可能是神经母细胞瘤、多形性胶质母细胞瘤、尤文肉瘤及肾母细胞瘤遗传易感区域,深入此易感区域研究可能为阐述肿瘤发生、治疗及预后评估提供一定线索。
[Objective] To analyze the data constitution characteristics of GWAS in Chinese neuroblastoma, glioblastoma multiforme, ewing sarcoma and nephroblastoma. [Methods] A retrospective study of neuroblastoma, which is one of the most recent GWAS database from the United States, was included in the National Human Genome Research Institute (NHGRI) database from November 25, 2008 to August 26, 2013 Glioblastoma, Ewing’s sarcoma and Wilms’ tumor. The first phase sample size, the second phase sample size, SNP related to the chromosome region, and the risk associated with the control group Gene frequency, P values in the literature the strongest SNP, odds ratio (OR) or β correlation coefficient and experimental platform and the number of SNPs detected eight data analysis. [Results] There were 7 articles of 4 kinds of oncology GWAS (3 neuroblastoma, 1 glioblastoma, 1 Ewing’s sarcoma and 1 nephroblastoma) were searched. There were 27 SNPs 10 neuroblastoma, 1 glioblastoma multiforme, 3 Ewing’s sarcoma, and 13 nephroblastoma), with the largest number of articles published in Nat Genet. In the first phase of the literature, the sample size increased from 315 to 2101, from 1879 to 3851 in the control group; from 434 to 1488 in the second phase, from 199 to 3851 in the control group . Chromosomal region-related SNPs were mostly Nos. 2, 5, 6 and 11. The frequency of risk allele in the control group was 0.40 ~ group, and no rare mutation was found. The strongest SNP risk allele P value of 1 × 10-10 ~ mainly, the minimum P value of 2 × 10-26. OR or β correlation coefficient range of 1.23 ~ 2.64. Illumina-based research platform, accounting for 85.71%. The number of SNPs tested ranged from 286,966 to 599,255. [Conclusion] SNPs in chromosomes 2, 5, 6 and 11 may be neuroblastoma, glioblastoma multiforme, ewing sarcoma and nephroblastoma predisposing regions, The research may provide some clues to elucidate the tumorigenesis, treatment and prognosis.