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Developing and validating polygenic risk scores for colorectal cancer risk prediction in East Asians

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dc.contributor.authorPing, Jie-
dc.contributor.authorYang, Yaohua-
dc.contributor.authorWen, Wanqing-
dc.contributor.authorKweon, Sun-Seog-
dc.contributor.authorMatsuda, Koichi-
dc.contributor.authorJia, Wei-Hua-
dc.contributor.authorShin, Aesun-
dc.contributor.authorGao, Yu-Tang-
dc.contributor.authorMatsuo, Keitaro-
dc.contributor.authorKim, Jeongseon-
dc.contributor.authorKim, Dong-Hyun-
dc.contributor.authorJee, Sun Ha-
dc.contributor.authorCai, Qiuyin-
dc.contributor.authorChen, Zhishan-
dc.contributor.authorTao, Ran-
dc.contributor.authorShin, Min-Ho-
dc.contributor.authorTanikawa, Chizu-
dc.contributor.authorPan, Zhi-Zhong-
dc.contributor.authorOh, Jae Hwan-
dc.contributor.authorOze, Isao-
dc.contributor.authorAhn, Yoon-Ok-
dc.contributor.authorJung, Keum Ji-
dc.contributor.authorRen, Zefang-
dc.contributor.authorShu, Xiao-Ou-
dc.contributor.authorLong, Jirong-
dc.contributor.authorZheng, Wei-
dc.date.accessioned2022-10-17T04:16:39Z-
dc.date.available2022-10-17T04:16:39Z-
dc.date.created2022-10-07-
dc.date.issued2022-11-
dc.identifier.citationInternational Journal of Cancer, Vol.151 No.10, pp.1726-1736-
dc.identifier.issn0020-7136-
dc.identifier.urihttps://hdl.handle.net/10371/186141-
dc.description.abstractSeveral polygenic risk scores (PRSs) have been developed to predict the risk of colorectal cancer (CRC) in European descendants. We used genome-wide association study (GWAS) data from 22 702 cases and 212 486 controls of Asian ancestry to develop PRSs and validated them in two case-control studies (1454 Korean and 1736 Chinese). Eleven PRSs were derived using three approaches: GWAS-identified CRC risk SNPs, CRC risk variants identified through fine-mapping of known risk loci and genome-wide risk prediction algorithms. Logistic regression was used to estimate odds ratios (ORs) and area under the curve (AUC). PRS115-EAS, a PRS with 115 GWAS-reported risk variants derived from East-Asian data, validated significantly better than PRS115-EUR derived from European descendants. In the Korea validation set, OR per SD increase of PRS115-EAS was 1.63 (95% CI = 1.46-1.82; AUC = 0.63), compared with OR of 1.44 (95% CI = 1.29-1.60, AUC = 0.60) for PRS115-EUR. PRS115-EAS/EUR derived using meta-analysis results of both populations slightly improved the AUC to 0.64. Similar but weaker associations were found in the China validation set. Individuals among the highest 5% of PRS115-EAS/EUR have a 2.52-fold elevated CRC risk compared with the medium (41-60th) risk group and have a 12% to 20% risk of developing CRC by age 85. PRSs constructed using results from fine-mapping and genome-wide algorithms did not perform as well as PRS115-EAS and PRS115-EAS/EUR in risk prediction, possibly due to a small sample size. Our results indicate that CRC PRSs are promising in predicting CRC risk in East Asians and highlights the importance of using population-specific data to build CRC risk prediction models.-
dc.language영어-
dc.publisherJohn Wiley & Sons Inc.-
dc.titleDeveloping and validating polygenic risk scores for colorectal cancer risk prediction in East Asians-
dc.typeArticle-
dc.identifier.doi10.1002/ijc.34194-
dc.citation.journaltitleInternational Journal of Cancer-
dc.identifier.wosid000828210000001-
dc.identifier.scopusid2-s2.0-85134585656-
dc.citation.endpage1736-
dc.citation.number10-
dc.citation.startpage1726-
dc.citation.volume151-
dc.description.isOpenAccessN-
dc.contributor.affiliatedAuthorShin, Aesun-
dc.contributor.affiliatedAuthorAhn, Yoon-Ok-
dc.type.docTypeArticle-
dc.description.journalClass1-
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