International Agency for Research on Cancer (IARC), 69008 Lyon, France.
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department Health and Human Services, Bethesda, Maryland 20892, USA.
Nat Commun. 2017 Jun 9;8:15724. doi: 10.1038/ncomms15724.
Previous genome-wide association studies (GWAS) have identified six risk loci for renal cell carcinoma (RCC). We conducted a meta-analysis of two new scans of 5,198 cases and 7,331 controls together with four existing scans, totalling 10,784 cases and 20,406 controls of European ancestry. Twenty-four loci were tested in an additional 3,182 cases and 6,301 controls. We confirm the six known RCC risk loci and identify seven new loci at 1p32.3 (rs4381241, P=3.1 × 10), 3p22.1 (rs67311347, P=2.5 × 10), 3q26.2 (rs10936602, P=8.8 × 10), 8p21.3 (rs2241261, P=5.8 × 10), 10q24.33-q25.1 (rs11813268, P=3.9 × 10), 11q22.3 (rs74911261, P=2.1 × 10) and 14q24.2 (rs4903064, P=2.2 × 10). Expression quantitative trait analyses suggest plausible candidate genes at these regions that may contribute to RCC susceptibility.
先前的全基因组关联研究(GWAS)已经确定了六个与肾细胞癌(RCC)相关的风险位点。我们对两个新的扫描进行了荟萃分析,共纳入了 5198 例病例和 7331 例对照,以及四个现有的扫描,共纳入了 10784 例病例和 20406 例对照,这些病例和对照均为欧洲血统。另外还在 3182 例病例和 6301 例对照中检测了 24 个位点。我们确认了六个已知的 RCC 风险位点,并在 1p32.3 (rs4381241,P=3.1×10)、3p22.1 (rs67311347,P=2.5×10)、3q26.2 (rs10936602,P=8.8×10)、8p21.3 (rs2241261,P=5.8×10)、10q24.33-q25.1 (rs11813268,P=3.9×10)、11q22.3 (rs74911261,P=2.1×10)和 14q24.2 (rs4903064,P=2.2×10)这七个新的位点中发现了七个新的风险位点。这些新的风险位点的发现为 RCC 易感性的相关基因提供了新的候选基因。