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A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening.


ABSTRACT: Polygenic risk scores (PRS) have the potential to identify individuals at risk of diseases, optimizing treatment, and predicting survival outcomes. Here, we construct and validate a genome-wide association study (GWAS) derived PRS for nasopharyngeal carcinoma (NPC), using a multi-center study of six populations (6 059 NPC cases and 7 582 controls), and evaluate its utility in a nested case-control study. We show that the PRS enables effective identification of NPC high-risk individuals (AUC = 0.65) and improves the risk prediction with the PRS incremental deciles in each population (Ptrend ranging from 2.79 × 10-7 to 4.79 × 10-44). By incorporating the PRS into EBV-serology-based NPC screening, the test's positive predictive value (PPV) is increased from an average of 4.84% to 8.38% and 11.91% in the top 10% and 5% PRS, respectively. In summary, the GWAS-derived PRS, together with the EBV test, significantly improves NPC risk stratification and informs personalized screening.

SUBMITTER: He YQ 

PROVIDER: S-EPMC9005522 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening.

He Yong-Qiao YQ   Wang Tong-Min TM   Ji Mingfang M   Mai Zhi-Ming ZM   Tang Minzhong M   Wang Ruozheng R   Zhou Yifeng Y   Zheng Yuming Y   Xiao Ruowen R   Yang Dawei D   Wu Ziyi Z   Deng Changmi C   Zhang Jiangbo J   Xue Wenqiong W   Dong Siqi S   Zhan Jiyun J   Cai Yonglin Y   Li Fugui F   Wu Biaohua B   Liao Ying Y   Zhou Ting T   Zheng Meiqi M   Jia Yijing Y   Li Danhua D   Cao Lianjing L   Yuan Leilei L   Zhang Wenli W   Luo Luting L   Tong Xiating X   Wu Yanxia Y   Li Xizhao X   Zhang Peifen P   Zheng Xiaohui X   Zhang Shaodan S   Hu Yezhu Y   Qin Weiling W   Deng Bisen B   Liang Xuejun X   Fan Peiwen P   Feng Yaning Y   Song Jia J   Xie Shang-Hang SH   Chang Ellen T ET   Zhang Zhe Z   Huang Guangwu G   Xu Miao M   Feng Lin L   Jin Guangfu G   Bei Jinxin J   Cao Sumei S   Liu Qing Q   Kozlakidis Zisis Z   Mai Haiqiang H   Sun Ying Y   Ma Jun J   Hu Zhibin Z   Liu Jianjun J   Lung Maria Li ML   Adami Hans-Olov HO   Shen Hongbing H   Ye Weimin W   Lam Tai-Hing TH   Zeng Yi-Xin YX   Jia Wei-Hua WH  

Nature communications 20220412 1


Polygenic risk scores (PRS) have the potential to identify individuals at risk of diseases, optimizing treatment, and predicting survival outcomes. Here, we construct and validate a genome-wide association study (GWAS) derived PRS for nasopharyngeal carcinoma (NPC), using a multi-center study of six populations (6 059 NPC cases and 7 582 controls), and evaluate its utility in a nested case-control study. We show that the PRS enables effective identification of NPC high-risk individuals (AUC = 0.  ...[more]

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