Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population.
Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population.
复制标题
PDZD2 和 ITPR2 基因的种系遗传变异与中国人群的透明细胞肾细胞癌相关。
DOI：
10.18632/oncotarget.6917
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发表时间：
2017-04-11
期刊：
影响因子：
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通讯作者：
Xu J
中科院分区：
文献类型：
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作者：
Zhang N;Wu Y;Gong J;Li K;Lin X;Chen H;Yu Y;Gou Y;Hou J;Jiang D;Na R;Wang X;Ding Q;Xu J
全基因组关联研究发现，在欧洲和非裔美国人中，与肾细胞癌相关的单核苷酸多态(SNPs)存在。在这项研究中，我们评估了这些SNP是否与中国人群中的透明细胞肾癌(CcRCC)相关。在346例慢性肾细胞癌患者和1130名对照中，对所有报告的肾细胞癌风险相关单核苷酸多态进行了评估。在中国人群中，Rs10054504(优势比，OR=0.71，95%CI：0.59~0.86，P=0.0006)、rs718314(在ITPR2，OR=0.56，95%CI：0.45~0.69，P=5.26×10−8)和rs1049380(按显性模型计算，OR=1.58，95%CI：1.18~2.13，P=0.0025)与中国人群的肾癌风险显著相关。结论：在中国人群中，PDZD2和ITPR2基因变异是肾细胞癌的危险因素。
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.