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Hepatology. 2015 Jul;62(1):118-28. doi: 10.1002/hep.27794. Epub 2015 Apr 28.
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Global cancer statistics, 2012.全球癌症统计数据，2012 年。
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A genome-wide association study of renal cell carcinoma among African Americans.一项针对非裔美国人肾细胞癌的全基因组关联研究。
Cancer Epidemiol Biomarkers Prev. 2014 Jan;23(1):209-14. doi: 10.1158/1055-9965.EPI-13-0818. Epub 2013 Nov 12.
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A common variant at 8q24.21 is associated with renal cell cancer.一个常见的 8q24.21 位点变异与肾细胞癌相关。
Nat Commun. 2013;4:2776. doi: 10.1038/ncomms3776.
6
Germline genetic variations at 11q13 and 12p11 locus modulate age at onset for renal cell carcinoma.11q13 和 12p11 位置的胚系遗传变异可调节肾细胞癌的发病年龄。
J Urol. 2014 Feb;191(2):487-92. doi: 10.1016/j.juro.2013.07.064. Epub 2013 Aug 1.
7
Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer.2q22.3 上的常见变异（ZEB2）会影响肾癌的风险。
Hum Mol Genet. 2013 Feb 15;22(4):825-31. doi: 10.1093/hmg/dds489. Epub 2012 Nov 25.
8
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.全基因组关联研究鉴定出 12p11.23 上肾细胞癌的新易感位点。
Hum Mol Genet. 2012 Jan 15;21(2):456-62. doi: 10.1093/hmg/ddr479. Epub 2011 Oct 18.
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Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008.2008 年全球癌症负担估计值：GLOBOCAN 2008。
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Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.全基因组关联研究鉴定出肾细胞癌的两个易感性位点，位于 2p21 和 11q13.3。
Nat Genet. 2011 Jan;43(1):60-5. doi: 10.1038/ng.723. Epub 2010 Dec 5.

在中国人群中，PDZD2和ITPR2基因的种系遗传变异与肾透明细胞癌相关。

Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population.

作者信息

Zhang Ning, Wu Yishuo, Gong Jian, Li Kaiwen, Lin Xiaolin, Chen Haitao, Yu Yang, Gou Yuancheng, Hou Jiangang, Jiang Deke, Na Rong, Wang Xiang, Ding Qiang, Xu Jianfeng

机构信息

Department of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.

Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, PR China.

出版信息

Oncotarget. 2017 Apr 11;8(15):24196-24201. doi: 10.18632/oncotarget.6917.

DOI:10.18632/oncotarget.6917
PMID:26918600
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5421839/
Abstract

Genome-wide association studies (GWAS) of renal cell carcinoma (RCC) have identified single nucleotide polymorphisms (SNPs) associated with RCC in European and African American population. In this study, we evaluated whether these SNPs are associated with clear cell RCC (ccRCC) in Chinese population. All reported RCC risk-associated SNPs from GWAS were evaluated in 346 ccRCC cases and 1,130 controls. Rs10054504 (at PDZD2, Odds ratio, OR = 0.71, 95%CI:0.59-0.86, P = 0.0006), rs718314 (at ITPR2, OR = 0.56, 95%CI:0.45-0.69, P = 5.26×10-8) and rs1049380 (at ITPR2, by dominant model, OR = 1.58, 95%CI:1.18-2.13, P = 0.0025) were significantly associated with ccRCC risk in Chinese population. To conclude, genetic variations in PDZD2 and ITPR2 are ccRCC-risk associated in Chinese population.

摘要

肾细胞癌（RCC）的全基因组关联研究（GWAS）已在欧洲和非裔美国人人群中鉴定出与RCC相关的单核苷酸多态性（SNP）。在本研究中，我们评估了这些SNP在中国人群中是否与透明细胞肾细胞癌（ccRCC）相关。对来自GWAS的所有已报道的RCC风险相关SNP在346例ccRCC病例和1130例对照中进行了评估。Rs10054504（位于PDZD2，比值比，OR = 0.71，95%可信区间：0.59 - 0.86，P = 0.0006）、rs718314（位于ITPR2，OR = 0.56，95%可信区间：0.45 - 0.69，P = 5.26×10-8）和rs1049380（位于ITPR2，显性模型，OR = 1.58，95%可信区间：1.18 - 2.13，P = 0.0025）与中国人群中的ccRCC风险显著相关。总之，PDZD2和ITPR2中的基因变异与中国人群中的ccRCC风险相关。