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Novel colon cancer susceptibility variants identified from a genome-wide association study in African Americans.

About this Publication
Title
Novel colon cancer susceptibility variants identified from a genome-wide association study in African Americans.
Pubmed ID
28295283 (View this publication on the PubMed website)
Digital Object Identifier
Publication
Int. J. Cancer. 2017 Jun 15; Volume 140 (Issue 12): Pages 2728-2733
Authors
Wang H, Schmit SL, Haiman CA, Keku TO, Kato I, Palmer JR, van den Berg D, Wilkens LR, Burnett T, Conti DV, Schumacher FR, Signorello LB, Blot WJ, Zanetti KA, Harris C, Pande M, Berndt SI, Newcomb PA, West DW, Haile R, ...show more Stram DO, Figueiredo JC, Hispanic Colorectal Cancer Study, Le Marchand L
Affiliations
  • Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI.
  • Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL.
  • Department of Preventive Medicine and USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA.
  • Center for Gastrointestinal Biology and Disease, University of North Carolina, Chapel Hill, NC.
  • Wayne State University Karmanos Cancer Institute, Detroit, MI.
  • Slone Epidemiology Center at Boston University, Boston, MA.
  • Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH.
  • Division of Cancer Prevention, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, TN.
  • Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Bethesda, MD.
...show more
  • Laboratory of Human Carcinogenesis, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Department of Gastroenterology, Hepatology & Nutrition, the University of Texas M. D. Anderson Cancer Center, Houston, TX.
  • Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA.
  • Cancer Prevention Institute of California, Fremont, CA.
  • Stanford Cancer Institute, Stanford, CA.
Abstract

Genome-wide association studies (GWAS) in ethnic/racial minority populations can help to fine-map previously identified risk regions or discover new risk loci because of the genetic diversity in these populations. We conducted a GWAS of colorectal cancer (CRC) in 6,597 African Americans (1,894 cases and 4,703 controls) (Stage 1) and followed up the most promising markers in a replication set of 2,041 participants of African descent (891 cases and 1,150 controls) (Stage 2). We identified a novel variant, rs56848936 in the gene SYMPK at 19q13.3, associated with colon cancer risk (odds ratio 0.61 for the risk allele G, p = 2.4 × 10-8 ). The frequency of the G allele was 0.06 in African Americans, compared to <0.01 in Europeans, Asians and Amerindians in the 1000 Genomes project. In addition, a variant previously identified through fine-mapping in this GWAS in the region 19q13.1, rs7252505, was confirmed to be more strongly associated with CRC in the African American replication set than the variant originally reported in Europeans (rs10411210). The association between rs7252505 and CRC was of borderline significance (p = 0.05) in a Hispanic population GWAS with 1,611 CRC cases and 4,330 controls. With the three datasets combined, the odds ratio was 0.84 for the risk allele A (95% confidence interval 0.79-0.89, p = 3.7 × 10-8 ). This study further highlights the importance of conducting GWAS studies in diverse ancestry populations.

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