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http://hdl.handle.net/2445/174139
Title: | Identification of Novel Loci and New Risk Variant in Known Loci for Colorectal Cancer Risk in East Asians |
Author: | Lu, Yingchang Kweon, Sun-Seog Cai, Qiuyin Tanikawa, Chizu Shu, Xiao-Ou Jia, Wei-Hua Xiang, Yong-Bing Huyghe, Jeroen R. Harrison, Tabitha A. Kim, Jeongseon Shin, Aesun Kim, Dong-Hyun Matsuo, Keitaro Jee, Sun Han Guo, Xingyi Wen, Wanqing Shi, Jiajun Li, Bingshan Wang, Nan Shin, Min-Ho Li, Hong-Lan Ren, Zefang Hwan Oh, Jae Oze, Isao Ahn, Yoon-Ok Jung, Keum Ji Gao, Jing Gao, Yu-Tang Pan, Zhi-Zhong Kamatani, Yoichiro Chan, Andrew T. Gsur, Andrea Hampe, Jochen Le Marchand, Loic Li, Li Lindblom, Annika Moreno Aguado, Víctor Newcomb, Polly A. Offit, Kenneth Pharoah, Paul D.P. van Duijnhoven, Franzel J. B. Van Guelpen, Bethany Vodicka, Pavel Weinstein, Stephanie J. Wolk, Alicja Wu, Anna H. Hsu, Li Zeng, Yi-Xin Peters, Ulrike Matsuda, Koichi Zheng, Wei |
Director/Tutor: | Long, Jirong |
Keywords: | Càncer colorectal Asiàtics Factors de risc en les malalties Colorectal cancer Asians Risk factors in diseases |
Issue Date: | 1-Feb-2020 |
Publisher: | American Association for Cancer Research |
Abstract: | BACKGROUND: Risk variants identified so far for colorectal cancer explain only a small proportion of familial risk of this cancer, particularly in Asians. METHODS: We performed a genome-wide association study (GWAS) of colorectal cancer in East Asians, including 23,572 colorectal cancer cases and 48,700 controls. To identify novel risk loci, we selected 60 promising risk variants for replication using data from 58,131 colorectal cancer cases and 67,347 controls of European descent. To identify additional risk variants in known colorectal cancer loci, we performed conditional analyses in East Asians. RESULTS: An indel variant, rs67052019 at 1p13.3, was found to be associated with colorectal cancer risk at P = 3.9 × 10-8 in Asians (OR per allele deletion = 1.13, 95% confidence interval = 1.08-1.18). This association was replicated in European descendants using a variant (rs2938616) in complete linkage disequilibrium with rs67052019 (P = 7.7 × 10-3). Of the remaining 59 variants, 12 showed an association at P < 0.05 in the European-ancestry study, including rs11108175 and rs9634162 at P < 5 × 10-8 and two variants with an association near the genome-wide significance level (rs60911071, P = 5.8 × 10-8; rs62558833, P = 7.5 × 10-8) in the combined analyses of Asian- and European-ancestry data. In addition, using data from East Asians, we identified 13 new risk variants at 11 loci reported from previous GWAS. CONCLUSIONS: In this large GWAS, we identified three novel risk loci and two highly suggestive loci for colorectal cancer risk and provided evidence for potential roles of multiple genes and pathways in the etiology of colorectal cancer. In addition, we showed that additional risk variants exist in many colorectal cancer risk loci identified previously. IMPACT: Our study provides novel data to improve the understanding of the genetic basis for colorectal cancer risk. |
Note: | Versió postprint del document publicat a: https://doi.org/10.1158/1055-9965.EPI-19-0755 |
It is part of: | Cancer Epidemiology Biomarkers & Prevention, 2020, vol. 29, num. 2, p. 477-486 |
URI: | http://hdl.handle.net/2445/174139 |
Related resource: | https://doi.org/10.1158/1055-9965.EPI-19-0755 |
ISSN: | 1055-9965 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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