Genomics & Informatics

Korea Genome Organization (한국유전체학회)
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Prediction of Colorectal Cancer Risk Using a Genetic Risk Score: The Korean Cancer Prevention Study-II (KCPS-II)

  • Jo, Jae-Seong (Institute for Health Promotion and Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University) ;
  • Nam, Chung-Mo (Department of Public Health, Graduate School of Yonsei University) ;
  • Sull, Jae-Woong (Metabolic Syndrome Research Initiatives) ;
  • Yun, Ji-Eun (Institute for Health Promotion and Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University) ;
  • Kim, Sang-Yeun (Department of Biomedical Laboratory Science, College of Health Sciences, Eulji University) ;
  • Lee, Sun-Ju (Department of Biomedical Laboratory Science, College of Health Sciences, Eulji University) ;
  • Kim, Yoon-Nam (Department of Public Health, Graduate School of Yonsei University) ;
  • Park, Eun-Jung (Department of Public Health, Graduate School of Yonsei University) ;
  • Kimm, Hee-Jin (Institute for Health Promotion and Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University) ;
  • Jee, Sun-Ha (Institute for Health Promotion and Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University)
  • Received : 2012.07.31
  • Accepted : 2012.08.23
  • Published : 2012.09.30
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Abstract

Colorectal cancer (CRC) is among the leading causes of cancer deaths and can be caused by environmental factors as well as genetic factors. Therefore, we developed a prediction model of CRC using genetic risk scores (GRS) and evaluated the effects of conventional risk factors, including family history of CRC, in combination with GRS on the risk of CRC in Koreans. This study included 187 cases (men, 133; women, 54) and 976 controls (men, 554; women, 422). GRS were calculated with most significantly associated single-nucleotide polymorphism with CRC through a genomewide association study. The area under the curve (AUC) increased by 0.5% to 5.2% when either counted or weighted GRS was added to a prediction model consisting of age alone (AUC 0.687 for men, 0.598 for women) or age and family history of CRC (AUC 0.692 for men, 0.603 for women) for both men and women. Furthermore, the risk of CRC significantly increased for individuals with a family history of CRC in the highest quartile of GRS when compared to subjects without a family history of CRC in the lowest quartile of GRS (counted GRS odds ratio [OR], 47.9; 95% confidence interval [CI], 4.9 to 471.8 for men; OR, 22.3; 95% CI, 1.4 to 344.2 for women) (weighted GRS OR, 35.9; 95% CI, 5.9 to 218.2 for men; OR, 18.1, 95% CI, 3.7 to 88.1 for women). Our findings suggest that in Koreans, especially in Korean men, GRS improve the prediction of CRC when considered in conjunction with age and family history of CRC.

Keywords

References

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