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Nature:乳腺癌易感基因新位点

2015-03-12 佚名 生物谷

乳腺癌的研究持续发力,3月9日,Nature Genetics杂志发表了一项关于乳腺癌的新的研究,该研究是由英国癌症研所资助,科学家通过全基因组关联研究(Genome-wide association studies, GWAS),发现了了15个新的乳腺癌易感基因位点。 GWAS研究和大量的重复研究已经鉴定了79个和乳腺癌相关的位点,这在一定程度上解释了乳腺癌的家族风险。为了鉴定新的易感基

乳腺癌的研究持续发力,3月9日,Nature Genetics杂志发表了一项关于乳腺癌的新的研究,该研究是由英国癌症研所资助,科学家通过全基因组关联研究(Genome-wide association studies, GWAS),发现了了15个新的乳腺癌易感基因位点。

GWAS研究和大量的重复研究已经鉴定了79个和乳腺癌相关的位点,这在一定程度上解释了乳腺癌的家族风险。为了鉴定新的易感基因位点,研究人员对11个GWAS研究和41个独立研究进行了Meta分析。这11个GWAS研究共包含了15748个乳腺癌病例和18084个对照;而这41个独立的研究包括了46785个病例和42892个对照。所纳入的对象都是具有欧洲血统的女性。

研究人员从超过1.1千万个单核苷酸多态性(single nucleotide polymorphisms, SNPs)中,鉴定出15个新的乳腺癌相关的基因位点。加上之前已经鉴定的79个位点,研究人员已经揭示了超过90个与乳腺癌相关的SNPs。在这90多个位点上出现的乳腺癌相关的遗传变异,能在16%的范围内解释遗传的可能性。

研究人员还利用ENCODE计划完成的增强子元件图谱,以及癌症基因组图谱所产生的表达数量性状位点的模式,深入研究了这些新位点中潜在的致病SNP。

人类逐渐从基因水平上揭开了乳腺癌的秘密,并了解如何针对性地治疗。这项新研究为乳腺癌风险遗传图谱提供了更多的细节,对于新办法的开发具有积极的作用。

原始出处:

Kyriaki Michailidou,et al.Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.Nature,March 9,2015.


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    2015-12-28 liye789132251
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    2016-02-24 ylz8403
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    2015-03-12 116.226.177.**

    分布在哪些基因上?

    0

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