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Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.


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?

SUBMITTER: Tanskanen T 

PROVIDER: S-EPMC6383773 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.

Tanskanen Tomas T   van den Berg Linda L   Välimäki Niko N   Aavikko Mervi M   Ness-Jensen Eivind E   Hveem Kristian K   Wettergren Yvonne Y   Bexe Lindskog Elinor E   Tõnisson Neeme N   Metspalu Andres A   Silander Kaisa K   Orlando Giulia G   Law Philip J PJ   Tuupanen Sari S   Gylfe Alexandra E AE   Hänninen Ulrika A UA   Cajuso Tatiana T   Kondelin Johanna J   Sarin Antti-Pekka AP   Pukkala Eero E   Jousilahti Pekka P   Salomaa Veikko V   Ripatti Samuli S   Palotie Aarno A   Järvinen Heikki H   Renkonen-Sinisalo Laura L   Lepistö Anna A   Böhm Jan J   Mecklin Jukka-Pekka JP   Al-Tassan Nada A NA   Palles Claire C   Martin Lynn L   Barclay Ella E   Tenesa Albert A   Farrington Susan M SM   Timofeeva Maria N MN   Meyer Brian F BF   Wakil Salma M SM   Campbell Harry H   Smith Christopher G CG   Idziaszczyk Shelley S   Maughan Tim S TS   Kaplan Richard R   Kerr Rachel R   Kerr David D   Buchanan Daniel D DD   Win Aung K AK   Hopper John J   Jenkins Mark A MA   Newcomb Polly A PA   Gallinger Steve S   Conti David D   Schumacher Fredrick R FR   Casey Graham G   Cheadle Jeremy P JP   Dunlop Malcolm G MG   Tomlinson Ian P IP   Houlston Richard S RS   Palin Kimmo K   Aaltonen Lauri A LA  

International journal of cancer 20171012 3


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 1  ...[more]

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