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种族特异性遗传风险评分在预测前列腺癌和高级别疾病方面比非种族特异性遗传风险评分更准确。

Race-specific genetic risk score is more accurate than nonrace-specific genetic risk score for predicting prostate cancer and high-grade diseases.

作者信息

Na Rong, Ye Dingwei, Qi Jun, Liu Fang, Lin Xiaoling, Helfand Brian T, Brendler Charles B, Conran Carly, Gong Jian, Wu Yishuo, Gao Xu, Chen Yaqing, Zheng S Lilly, Mo Zengnan, Ding Qiang, Sun Yinghao, Xu Jianfeng

机构信息

Department of Urology, Huashan Hospital, Fudan University, Shanghai, China; Fudan Institute of Urology, Huashan Hospital, Fudan University, Shanghai, China; Program for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, Illinois, USA; Health Communication Institute, School of Public Health, Fudan University, Shanghai, China, .

Department of Urology, Shanghai Cancer Center, Fudan University, Shanghai, China.

出版信息

Asian J Androl. 2016 Jul-Aug;18(4):525-9. doi: 10.4103/1008-682X.179857.

Abstract

Genetic risk score (GRS) based on disease risk-associated single nucleotide polymorphisms (SNPs) is an informative tool that can be used to provide inherited information for specific diseases in addition to family history. However, it is still unknown whether only SNPs that are implicated in a specific racial group should be used when calculating GRSs. The objective of this study is to compare the performance of race-specific GRS and nonrace-specific GRS for predicting prostate cancer (PCa) among 1338 patients underwent prostate biopsy in Shanghai, China. A race-specific GRS was calculated with seven PCa risk-associated SNPs implicated in East Asians (GRS7), and a nonrace-specific GRS was calculated based on 76 PCa risk-associated SNPs implicated in at least one racial group (GRS76). The means of GRS7 and GRS76 were 1.19 and 1.85, respectively, in the study population. Higher GRS7 and GRS76 were independent predictors for PCa and high-grade PCa in univariate and multivariate analyses. GRS7 had a better area under the receiver-operating curve (AUC) than GRS76 for discriminating PCa (0.602 vs 0.573) and high-grade PCa (0.603 vs 0.575) but did not reach statistical significance. GRS7 had a better (up to 13% at different cutoffs) positive predictive value (PPV) than GRS76. In conclusion, a race-specific GRS is more robust and has a better performance when predicting PCa in East Asian men than a GRS calculated using SNPs that are not shown to be associated with East Asians.

摘要

基于疾病风险相关单核苷酸多态性(SNP)的遗传风险评分(GRS)是一种有用的工具,除家族史外,还可用于提供特定疾病的遗传信息。然而,在计算GRS时是否仅应使用与特定种族群体相关的SNP仍不清楚。本研究的目的是比较种族特异性GRS和非种族特异性GRS在中国上海1338例接受前列腺活检的患者中预测前列腺癌(PCa)的性能。使用7个与东亚人相关的PCa风险SNP计算种族特异性GRS(GRS7),并基于76个与至少一个种族群体相关的PCa风险SNP计算非种族特异性GRS(GRS76)。在研究人群中,GRS7和GRS76的均值分别为1.19和1.85。在单变量和多变量分析中,较高的GRS7和GRS76是PCa和高级别PCa的独立预测因子。在区分PCa(0.602对0.573)和高级别PCa(0.603对0.575)方面,GRS7的受试者工作特征曲线下面积(AUC)优于GRS76,但未达到统计学意义。GRS7的阳性预测值(PPV)优于GRS76(在不同临界值下高达13%)。总之,在预测东亚男性PCa时,种族特异性GRS比使用未显示与东亚人相关的SNP计算的GRS更稳健,性能更好。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/01b4/4955174/d839c661ebe9/AJA-18-525-g005.jpg

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