NEJM：简单的DNA检测即可诊断前列腺癌？
生物谷报道：卡罗林斯卡研究所（Karolinska Institutet）的科学家最近在《新英格兰医学》（在线版）上发表文章称，研究显示携带一组变异基因的男性，比普通人患上前列腺癌的可能性高4至5倍。
一种叫做PSA检测的方法，是目前诊断前列腺癌的主要方法。这种方法的缺点是灵敏度相对较低，因此需要寻找更好的方法。
卡罗林斯卡研究所的Henrik Grönberg教授说，在不久的将来，我们就可以将PSA试验和简单的DNA试验结合起来一起使用。这意味着人们不必做组织检查，而且能诊断出更多的前列腺癌。
人们很久以前就知道，前列腺癌部分是由于遗传因素引起的，所以有一些人比其他人更容易得前列腺癌。目前，已经有5个基因变异被鉴定为与前列腺癌密切相关。可惜的是，这5个基因变异各自对前列腺癌只有很小的影响，因而没有实际的应用。
幸运的是，卡罗林斯卡研究所的研究人员和美国的研究人员合作，首次分析这些基因变异叠加的效果。研究结果发表在著名的学术期刊《新英格兰医学》杂志上。携带4个或以上变异基因的男性，患前列腺癌的概率会比一般人高4到5倍。如果他们的近亲中有人得过前列腺癌，概率则更高。
研究人员说，这是人们第一次说明基因组合在一起对疾病发展的影响。全世界的科学家目前正在努力寻找癌症、糖尿病和哮喘等疾病的基因组合。
Grönberg教授说，我们第一次证实，医学上可行的基因检测完全是可能的。
该项研究对约4,800个男性进行了遗传分析，其中有3,000个是前列腺癌确诊患者，另外1,800个则为正常人。
生物谷推荐原始出处：
Published at www.nejm.org January 16, 2008 (10.1056/NEJMoa075819)
ABSTRACT
Background Single-nucleotide polymorphisms (SNPs) in five chromosomal regions — three at 8q24 and one each at 17q12 and 17q24.3 — have been associated with prostate cancer. Each SNP has only a moderate association, but when SNPs are combined, the association may be stronger.
Methods We evaluated 16 SNPs from five chromosomal regions in a Swedish population (2893 subjects with prostate cancer and 1781 control subjects) and assessed the individual and combined association of the SNPs with prostate cancer.
Results Multiple SNPs in each of the five regions were associated with prostate cancer in single SNP analysis. When the most significant SNP from each of the five regions was selected and included in a multivariate analysis, each SNP remained significant after adjustment for other SNPs and family history. Together, the five SNPs and family history were estimated to account for 46% of the cases of prostate cancer in the Swedish men we studied. The five SNPs plus family history had a cumulative association with prostate cancer (P for trend, 3.93x10–28). In men who had any five or more of these factors associated with prostate cancer, the odds ratio for prostate cancer was 9.46 (P=1.29x10–8), as compared with men without any of the factors. The cumulative effect of these variants and family history was independent of serum levels of prostate-specific antigen at diagnosis.
Conclusions SNPs in five chromosomal regions plus a family history of prostate cancer have a cumulative and significant association with prostate cancer.
全文链接：http://content.nejm.org/cgi/content/full/NEJMoa075819
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