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

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 histo...

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Main Authors: Jaeseong Jo, Chung Mo Nam, Jae Woong Sull, Ji Eun Yun, Sang Yeun Kim, Sun Ju Lee, Yoon Nam Kim, Eun Jung Park, Heejin Kimm, Sun Ha Jee
Format: Article
Language:English
Published: BioMed Central 2012-09-01
Series:Genomics & Informatics
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Online Access:http://genominfo.org/upload/pdf/gni-10-175.pdf
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author Jaeseong Jo
Chung Mo Nam
Jae Woong Sull
Ji Eun Yun
Sang Yeun Kim
Sun Ju Lee
Yoon Nam Kim
Eun Jung Park
Heejin Kimm
Sun Ha Jee
author_facet Jaeseong Jo
Chung Mo Nam
Jae Woong Sull
Ji Eun Yun
Sang Yeun Kim
Sun Ju Lee
Yoon Nam Kim
Eun Jung Park
Heejin Kimm
Sun Ha Jee
author_sort Jaeseong Jo
collection DOAJ
description 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.
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spelling doaj-art-9369e2b6f3ee4c2dbb483cf1f90477e02025-02-02T00:26:33ZengBioMed CentralGenomics & Informatics1598-866X2234-07422012-09-0110317518310.5808/GI.2012.10.3.17512Prediction of Colorectal Cancer Risk Using a Genetic Risk Score: The Korean Cancer Prevention Study-II (KCPS-II)Jaeseong Jo0Chung Mo Nam1Jae Woong Sull2Ji Eun Yun3Sang Yeun Kim4Sun Ju Lee5Yoon Nam Kim6Eun Jung Park7Heejin Kimm8Sun Ha Jee9Institute for Health Promotion and Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University, Seoul 120-752, Korea.Department of Public Health, Graduate School of Yonsei University, Seoul 120-752, Korea.Metabolic Syndrome Research Initiatives, Seoul 120-752, Korea.Institute for Health Promotion and Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University, Seoul 120-752, Korea.Department of Biomedical Laboratory Science, College of Health Sciences, Eulji University, Seongnam 461-713, Korea.Department of Biomedical Laboratory Science, College of Health Sciences, Eulji University, Seongnam 461-713, Korea.Department of Public Health, Graduate School of Yonsei University, Seoul 120-752, Korea.Department of Public Health, Graduate School of Yonsei University, Seoul 120-752, Korea.Institute for Health Promotion and Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University, Seoul 120-752, Korea.Institute for Health Promotion and Department of Epidemiology and Health Promotion, Graduate School of Public Health, Yonsei University, Seoul 120-752, Korea.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.http://genominfo.org/upload/pdf/gni-10-175.pdfarea under curvecolorectal neoplasmsgenetic risk score (GRS)prediction
spellingShingle Jaeseong Jo
Chung Mo Nam
Jae Woong Sull
Ji Eun Yun
Sang Yeun Kim
Sun Ju Lee
Yoon Nam Kim
Eun Jung Park
Heejin Kimm
Sun Ha Jee
Prediction of Colorectal Cancer Risk Using a Genetic Risk Score: The Korean Cancer Prevention Study-II (KCPS-II)
Genomics & Informatics
area under curve
colorectal neoplasms
genetic risk score (GRS)
prediction
title Prediction of Colorectal Cancer Risk Using a Genetic Risk Score: The Korean Cancer Prevention Study-II (KCPS-II)
title_full Prediction of Colorectal Cancer Risk Using a Genetic Risk Score: The Korean Cancer Prevention Study-II (KCPS-II)
title_fullStr Prediction of Colorectal Cancer Risk Using a Genetic Risk Score: The Korean Cancer Prevention Study-II (KCPS-II)
title_full_unstemmed Prediction of Colorectal Cancer Risk Using a Genetic Risk Score: The Korean Cancer Prevention Study-II (KCPS-II)
title_short Prediction of Colorectal Cancer Risk Using a Genetic Risk Score: The Korean Cancer Prevention Study-II (KCPS-II)
title_sort prediction of colorectal cancer risk using a genetic risk score the korean cancer prevention study ii kcps ii
topic area under curve
colorectal neoplasms
genetic risk score (GRS)
prediction
url http://genominfo.org/upload/pdf/gni-10-175.pdf
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