title: Genome-wide association study identifies two new susceptibility loci for colorectal cancer at 5q23.3 and 17q12 in Han Chinese.
abstract: Genome-wide association studies (GWAS) have reported a number of loci harboring common variants that influence risk of colorectal cancer (CRC) in European descent. But all the SNPs identified explained a small fraction of total heritability. To identify more genetic factors that modify the risk of CRC, especially Chinese Han specific, we conducted a three-stage GWAS including a screening stage (932 CRC cases and 966 controls) and two independent validations (Stage 2: 1,759 CRC cases and 1,875 controls; Stage 3: 943 CRC cases and 1,838 controls). In the combined analyses, we discovered two novel loci associated with CRC: rs12522693 at 5q23.3 (CDC42SE2-CHSY3, OR = 1.31, P = 2.08 × 10-8) and rs17836917 at 17q12 (ASIC2-CCL2, OR = 0.75, P = 4.55 × 10-8). Additionally, we confirmed two previously reported risk loci, rs6983267 at 8q24.21 (OR = 1.17, P = 7.17 × 10-7) and rs10795668 at 10p14 (OR = 0.86, P = 2.96 × 10-6) in our cohorts. These results bring further insights into the CRC susceptibility and advance our understanding on etiology of CRC.
authors.affiliation: Department of General Surgery, Laboratory of Surgical Oncology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Kewei
authors.initials: K
authors.lastname: Jiang
authors.affiliation: Health Science Research Institute, Capital Bio Corporation, Beijing 102206, China.|National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China.|The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University, Shenzhen 518055, China.
authors.forename: Yimin
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Section of Clinical Epidemiology, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Cancer Center, Nanjing Medical University, Nanjing 211166, China.|Department of Epidemiology and Biostatistics and Ministry of Education (MOE) Key Lab for Modern Toxicology, School of Public Health, Nanjing Medical University, Nanjing 211166, China.|State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Surgery, Ministry of Education Key Lab of Carcinogenesis and Translational Research, Peking University Cancer Hospital & Institute, Beijing 100142, China.
authors.forename: Jiafu
authors.initials: J
authors.lastname: Ji
authors.affiliation: Department of Colorectal Surgery, Shanxi Cancer Hospital and Institute, Affiliated Cancer Hospital of Shanxi Medical University, Taiyuan 030001, China.|Shanxi Branch Center, National Engineering Research Center for Beijing Biochip Technology, Taiyuan, China.
authors.forename: Yaoping
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of General Surgery, Laboratory of Surgical Oncology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Yingjiang
authors.initials: Y
authors.lastname: Ye
authors.affiliation: Department of General Surgery, Laboratory of Surgical Oncology, Peking University People's Hospital, Beijing 100044, China.|Department of General Surgery, Affiliated Hospital of Qingdao University Medical College, Qingdao 266003, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Lv
authors.affiliation: Department of Biomedical Engineering, Medical Systems Biology Research Center, Tsinghua University School of Medicine, Beijing 100084, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Guo
authors.affiliation: Shanxi Branch Center, National Engineering Research Center for Beijing Biochip Technology, Taiyuan, China.|Department of Molecular Biology, Shanxi Cancer Hospital and Institute, Affiliated Cancer Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors.forename: Sutang
authors.initials: S
authors.lastname: Guo
authors.affiliation: Department of Anal-Colorectal Surgery, General Hospital of Ningxia Medical University, Yinchuan 750004, China.
authors.forename: Hai
authors.initials: H
authors.lastname: Li
authors.affiliation: Department of Surgery, Ministry of Education Key Lab of Carcinogenesis and Translational Research, Peking University Cancer Hospital & Institute, Beijing 100142, China.
authors.forename: Lianhai
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Department of General Surgery, Affiliated Hospital of Qingdao University Medical College, Qingdao 266003, China.
authors.forename: Yanbing
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: Department of Colorectal Surgery, Shanxi Cancer Hospital and Institute, Affiliated Cancer Hospital of Shanxi Medical University, Taiyuan 030001, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Jiang
authors.affiliation: Health Science Research Institute, Capital Bio Corporation, Beijing 102206, China.
authors.forename: Yonghong
authors.initials: Y
authors.lastname: Ren
authors.affiliation: Department of Biomedical Engineering, Medical Systems Biology Research Center, Tsinghua University School of Medicine, Beijing 100084, China.
authors.forename: Youchun
authors.initials: Y
authors.lastname: Xu
authors.affiliation: The Anorectal Department, Gansu Provincial People's Hospital, Lanzhou 730000, China.
authors.forename: Xiongfei
authors.initials: X
authors.lastname: Yang
authors.affiliation: The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University, Shenzhen 518055, China.
authors.forename: Hongxia
authors.initials: H
authors.lastname: Liu
authors.affiliation: Department of Biomedical Engineering, Medical Systems Biology Research Center, Tsinghua University School of Medicine, Beijing 100084, China.
authors.forename: Yirui
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Department of General Surgery, Laboratory of Surgical Oncology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Zhanlong
authors.initials: Z
authors.lastname: Shen
authors.affiliation: Health Science Research Institute, Capital Bio Corporation, Beijing 102206, China.
authors.forename: Wenyan
authors.initials: W
authors.lastname: Qin
authors.affiliation: Department of General Surgery, Laboratory of Surgical Oncology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Guo
authors.affiliation: The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology, The Graduate School at Shenzhen, Tsinghua University, Shenzhen 518055, China.
authors.forename: Yuyang
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: Section of Clinical Epidemiology, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Cancer Center, Nanjing Medical University, Nanjing 211166, China.|Department of Epidemiology and Biostatistics and Ministry of Education (MOE) Key Lab for Modern Toxicology, School of Public Health, Nanjing Medical University, Nanjing 211166, China.|State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.affiliation: Section of Clinical Epidemiology, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Cancer Center, Nanjing Medical University, Nanjing 211166, China.|Department of Epidemiology and Biostatistics and Ministry of Education (MOE) Key Lab for Modern Toxicology, School of Public Health, Nanjing Medical University, Nanjing 211166, China.|State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
authors.affiliation: Health Science Research Institute, Capital Bio Corporation, Beijing 102206, China.|National Engineering Research Center for Beijing Biochip Technology, Beijing 102206, China.|Department of Biomedical Engineering, Medical Systems Biology Research Center, Tsinghua University School of Medicine, Beijing 100084, China.|The State Key Laboratory of Biomembrane and Membrane Biotechnology, Tsinghua University, Beijing 100084, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Cheng
authors.affiliation: Department of Anal-Colorectal Surgery, General Hospital of Ningxia Medical University, Yinchuan 750004, China.|Ningxia Branch Center, National Engineering Research Center for Beijing Biochip Technology, Yinchuan 750004, China.
authors.forename: Yinxue
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of General Surgery, Laboratory of Surgical Oncology, Peking University People's Hospital, Beijing 100044, China.
authors.forename: Shan
authors.initials: S
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide
keywords: GWAS; association; colorectal cancer