The evidence for prostate cancer risk loci at 8q24 grows stronger.
The evidence for prostate cancer risk loci at 8q24 grows stronger.
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8q24 处前列腺癌风险位点的证据越来越充分。
DOI：
10.1093/jnci/djm186
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发表时间：
2007
期刊：
影响因子：
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通讯作者：
Greene,MarkH
中科院分区：
文献类型：
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作者：
Savage,SharonA;Greene,MarkH
1500社论| JNCI第99卷，第20期| 2007年10月17日报告（1,2）。他们还发现，第二个SNP rs6983267，位于rs1447295 71.7 kb处，与rs1447295没有连锁不平衡，也与前列腺癌风险增加有关（P= 6.12× 10−4）。2007年5月发表的CGEMS前列腺癌分析(4)也证实rs1447295和rs6983267与前列腺癌风险增加有关。主要风险snp rs1447295和rs6983267导致前列腺癌风险增加的机制尚不清楚。连锁扫描和全基因组关联研究不是基于候选基因，而是以一种公正、“不确定”的方式对基因组进行广泛的询问，已经确定了一个与前列腺癌和其他癌症风险相关的非常不寻常的基因组区域（5,11 - 14）。虽然“回顾镜”显示8q24是前列腺癌体细胞增加的常见位点，但用候选基因方法很难找到这个基因贫乏的区域（15）。这些发现也提醒我们，以前被称为“垃圾DNA”的基因组的大片区域可能包含新的调控元件，甚至是我们尚未识别和理解的基因。正如郑等人（10）所证明的那样，遗传关联研究中的数据共享已成为基因组学进步速度的主要贡献者。人类基因组计划的数据在公共领域的快速发布建立了一个新的研究和知识产权范式。这一策略确保了公众及时获得大量基因数据，以供渴望测试新假设或证实先前假设的独立调查人员进行分析。此后，通过测序产生了许多SNP数据库(例如，
1500 Editorials| JNCI Vol. 99, Issue 20| October 17, 2007 reports (1, 2). They also found that a second SNP, rs6983267, located 71.7 kb from rs1447295 and not in linkage disequilibrium with rs1447295, was also associated with an increased risk of prostate cancer (P= 6.12× 10− 4). The CGEMS prostate cancer analysis (4), which was published in May 2007, also documented that rs1447295 and rs6983267 are associated with an increased risk of prostate cancer.The mechanism by which the main risk SNPs, rs1447295 and rs6983267, contribute to an increased risk of prostate cancer remains undefined. Linkage scans and genome-wide association studies, which are not based on candidate genes but broadly interrogate the genome in an impartial,“agnostic” manner, have identified a very unusual genomic region associated with risks of prostate and other cancers (5, 11–14). This gene-poor region would be difficult to find with the candidate gene approach, although the “retrospectoscope” reveals that 8q24 is a common location for somatic gains in prostate cancer (15). These findings also serve to remind us that large regions of the genome that were previously referred to as “junk DNA” may contain novel regulatory elements or even genes that we have yet to identify and understand. As demonstrated by Zheng et al.(10), data sharing in genetic association studies has become a major contributor to the speed at which genomics is progressing. The rapid posting of Human Genome Project data in the public domain established a new research and intellectual property paradigm. This strategy ensured timely public access to vast quantities of genetic data for analyses by independent investigators eager to test new hypotheses or confirm previous hypotheses. Numerous SNP databases have since been generated through sequencing (eg,