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中全基因组关联分析计量和热点研究

[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。

Bibliometrics and Hot Research of Genome-wide Association Study in Neuroblastoma,Glioblastoma, Ewing Sarcoma and Wilms Tumor

[Purpose ] To analyze the data constitution features of genome-wide association studies （GWAS） in English literatures of neuroblastoma,glioblastoma,Ewing sarcoma and Wilms tumor. [Methods] National Human Genome Institute GWAS database,one of the latest international research database of GWAS,was meticulously data mined. Eight characteristics of NHGRI literatures in neuroblastoma,glioblastoma, Ewing sarcoma and Wilms tumor from November 25,2008 to August 26,2013 were analyzed bibliometrically. These eight characteristics were the basic characteristic of literature, the sample sizes of first and second stages, chromosomal regions associated with single nucleotide polymorphism （SNP）,related risk allele frequency in the control groups, P value with the strongest SNP in the literatures, odds ratio（OR） or beta coefficient of correlation, and experimental platform including testing the SNP number. [ Results ] Total 7 articles about 4 types of rare tumors from GWAS studies were found （3 for neuroblastoma, 1 for glioblastoma, 1 for Ewing sarcoma and 1 for Wilms tumor）. These papers in- volved a total of 27 SNP（10 for neuroblastoma, 1 for glioblastoma, 3 for Ewing sarcoma, 13 for Wilms tumor）. Most of the literatures came from Nat Geuet. The first stage group sample sizes of these literatures were from 315 to 2101 cases in case groups and from 1879 to 3851 cases in control groups;the second stage group sample sizes were from 434 to 1488 cases in case groups and 199 to 3851 cases in control group. Chromosome regions associated SNP were mainly in number 2,5,6 and 11. Control group related risk allele frequency were commonly in 0.40- group, and no rare mutation was found. P value in the strongest risk associated with SNP alleles was domi nated by 1×10-^10,the smallest P value was 2×10^-26. OR or beta coefficient ranged from 1.23 to 2.64. Majority of research platform was Illumina （85.71%）. Detective number of SNP was from 286 966 to 599 255. [Conclusion] Chromosome 2,5,6 and 11 regional SNP may be ge