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

Tanskanen, T. (author)
van den Berg, L. (author)
Valimaki, N. (author)
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Aavikko, M. (author)
Ness-Jensen, E. (author)
Karolinska Institutet
Hveem, K. (author)
Wettergren, Yvonne, 1957 (author)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för kirurgi,Institute of Clinical Sciences, Department of Surgery
Bexe-Lindskog, Elinor (author)
Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för kirurgi,Institute of Clinical Sciences, Department of Surgery
Tonisson, N. (author)
Metspalu, A. (author)
Silander, K. (author)
Orlando, G. (author)
Law, P. J. (author)
Tuupanen, S. (author)
Gylfe, A. E. (author)
Hanninen, U. A. (author)
Cajuso, T. (author)
Kondelin, J. (author)
Sarin, A. P. (author)
Pukkala, E. (author)
Jousilahti, P. (author)
Salomaa, V. (author)
Ripatti, S. (author)
Palotie, A. (author)
Jarvinen, H. (author)
Renkonen-Sinisalo, L. (author)
Lepisto, A. (author)
Bohm, J. (author)
Mecklin, J. P. (author)
Al-Tassan, N. A. (author)
Palles, C. (author)
Martin, L. (author)
Barclay, E. (author)
Tenesa, A. (author)
Farrington, S. M. (author)
Timofeeva, M. N. (author)
Meyer, B. F. (author)
Wakil, S. M. (author)
Campbell, H. (author)
Smith, C. G. (author)
Idziaszczyk, S. (author)
Maughan, T. S. (author)
Kaplan, R. (author)
Kerr, R. (author)
Kerr, D. (author)
Buchanan, D. D. (author)
Win, A. K. (author)
Hopper, J. (author)
Jenkins, M. A. (author)
Newcomb, P. A. (author)
Gallinger, S. (author)
Conti, D. (author)
Schumacher, F. R. (author)
Casey, G. (author)
Cheadle, J. P. (author)
Dunlop, M. G. (author)
Tomlinson, I. P. (author)
Houlston, R. S. (author)
Palin, K. (author)
Aaltonen, L. A. (author)
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ISSN 0020-7136
2017-10-12
2018
English.
In: International Journal of Cancer. - Stockholm : Wiley. - 0020-7136 .- 1097-0215. ; 142:3, s. 540-546
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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 x 10(-4); OR, 1.14; 95% CI, 1.06-1.23), and it was genome-wide significant in combined analysis (p=1.50 x 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Kirurgi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Surgery (hsv//eng)

Keyword

colorectal cancer
genetic predisposition to disease
genome-wide association study
single-
susceptibility locus
common variation
chromosome 8q24
colon-cancer
mixed-model
efficient
scan
imputation
variants
disease
Oncology

Publication and Content Type

ref (subject category)
art (subject category)

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