| Literature DB >> 28960316 |
Tomas Tanskanen1,2, Linda van den Berg1,2, Niko Välimäki1,2, Mervi Aavikko1,2, Eivind Ness-Jensen3,4,5,6, Kristian Hveem3,4, Yvonne Wettergren7, Elinor Bexe Lindskog7, Neeme Tõnisson8, Andres Metspalu8, Kaisa Silander9, Giulia Orlando10, Philip J Law10, Sari Tuupanen1,2, Alexandra E Gylfe1,2, Ulrika A Hänninen1,2, Tatiana Cajuso1,2, Johanna Kondelin1,2, Antti-Pekka Sarin11, Eero Pukkala12,13, Pekka Jousilahti14, Veikko Salomaa14, Samuli Ripatti11, Aarno Palotie11,15,16,17, Heikki Järvinen18, Laura Renkonen-Sinisalo18, Anna Lepistö18, Jan Böhm19, Jukka-Pekka Mecklin20, Nada A Al-Tassan21, Claire Palles22, Lynn Martin23, Ella Barclay22, Albert Tenesa24,25, Susan M Farrington24, Maria N Timofeeva24, Brian F Meyer21, Salma M Wakil21, Harry Campbell26, Christopher G Smith27, Shelley Idziaszczyk27, Tim S Maughan28, Richard Kaplan29, Rachel Kerr30, David Kerr31, Daniel D Buchanan32,33, Aung K Win33, John Hopper33, Mark A Jenkins33, Polly A Newcomb34, Steve Gallinger35, David Conti36, Fredrick R Schumacher37, Graham Casey38, Jeremy P Cheadle27, Malcolm G Dunlop24, Ian P Tomlinson23, Richard S Houlston10, Kimmo Palin1,2, Lauri A Aaltonen1,2.
Abstract
Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm reported associations, we conducted a genome-wide association study in 1,701 CRC cases and 14,082 cancer-free controls from the Finnish population. A total of 9,068,015 genetic variants were imputed and tested, and 30 promising variants were studied in additional 11,647 cases and 12,356 controls of European ancestry. The previously reported association between the single-nucleotide polymorphism (SNP) rs992157 (2q35) and CRC was independently replicated (p = 2.08 × 10-4 ; OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p = 1.50 × 10-9 ; OR, 1.12; 95% CI, 1.08-1.16). Variants at 2q35, 6p21.2, 8q23.3, 8q24.21, 10q22.3, 10q24.2, 11q13.4, 11q23.1, 14q22.2, 15q13.3, 18q21.1, 20p12.3 and 20q13.33 were associated with CRC in the Finnish population (false discovery rate < 0.1), but new risk loci were not found. These results replicate the effects of multiple loci on the risk of CRC and identify shared risk alleles between the Finnish population isolate and outbred populations.Entities:
Keywords: colorectal cancer; genetic predisposition to disease; genome-wide association study; single-nucleotide polymorphism
Mesh：
Year: 2017 PMID： 28960316 PMCID： PMC6383773 DOI： 10.1002/ijc.31076
Source DB: PubMed Journal: Int J Cancer ISSN： 0020-7136 Impact factor: 7.396