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

 Jie Ping  ;  Yaohua Yang  ;  Wanqing Wen  ;  Sun-Seog Kweon  ;  Koichi Matsuda  ;  Wei-Hua Jia  ;  Aesun Shin  ;  Yu-Tang Gao  ;  Keitaro Matsuo  ;  Jeongseon Kim  ;  Dong-Hyun Kim  ;  Sun Ha Jee  ;  Qiuyin Cai  ;  Zhishan Chen  ;  Ran Tao  ;  Min-Ho Shin  ;  Chizu Tanikawa  ;  Zhi-Zhong Pan  ;  Jae Hwan Oh  ;  Isao Oze  ;  Yoon-Ok Ahn  ;  Keum Ji Jung  ;  Zefang Ren  ;  Xiao-Ou Shu  ;  Jirong Long  ;  Wei Zheng 
 INTERNATIONAL JOURNAL OF CANCER, Vol.151(10) : 1726-1736, 2022-11 
Journal Title
Issue Date
Aged, 80 and over ; Asian People / genetics ; Colorectal Neoplasms* / epidemiology ; Colorectal Neoplasms* / genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study* ; Humans ; Polymorphism, Single Nucleotide ; Risk Factors
East Asian ; colorectal cancer ; genetic risk score
Several 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.
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4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers
Yonsei Authors
Jung, Keum Ji(정금지) ORCID logo https://orcid.org/0000-0003-4993-0666
Jee, Sun Ha(지선하) ORCID logo https://orcid.org/0000-0001-9519-3068
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