Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer
Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer
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DOI：
10.1093/hmg/dds489
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发表时间：
2013-02-15
影响因子：
3.5
通讯作者：
Houlston, Richard S.
中科院分区：
文献类型：
--
作者：
Henrion, Marc;Frampton, Matthew;Houlston, Richard S.
迄今为止，肾细胞癌（RCC）的全基因组关联研究（GWASs）已经确定了四个易感位点。为了确定一个额外的RCC共同易感位点，我们对已发表的GWASs（总计2215例病例和8566例欧洲背景对照）进行了GWAS和荟萃分析，并在3739例病例和8786例对照中随访了最显著的关联信号[8个基因组区域的9个单核苷酸多态性（snp）]。联合分析发现了一个新的易感位点，定位于由rs12105918标记的2q22.3 (P 1.80 10(8)；优势比1.29,95 CI: 1.181.41)。该信号定位于ZEB2基因的内含子2（锌指E盒结合同源盒2）。我们的研究结果表明，ZEB2的遗传变异会影响RCC的风险。这一发现为RCC遗传易感性的遗传和生物学基础提供了进一步的见解。
Genome-wide association studies (GWASs) of renal cell cancer (RCC) have identified four susceptibility loci thus far. To identify an additional RCC common susceptibility locus, we conducted a GWAS and performed a meta-analysis with published GWASs (totalling 2215 cases and 8566 controls of European background) and followed up the most significant association signals [nine single nucleotide polymorphisms (SNPs) in eight genomic regions] in 3739 cases and 8786 controls. A combined analysis identified a novel susceptibility locus mapping to 2q22.3 marked by rs12105918 (P 1.80 10(8); odds ratio 1.29, 95 CI: 1.181.41). The signal localizes to intron 2 of the ZEB2 gene (zinc finger E box-binding homeobox 2). Our findings suggest that genetic variation in ZEB2 influences the risk of RCC. This finding provides further insights into the genetic and biological basis of inherited genetic susceptibility to RCC.