dc.contributor.author | Orlando, G | |
dc.contributor.author | Law, PJ | |
dc.contributor.author | Palin, K | |
dc.contributor.author | Tuupanen, S | |
dc.contributor.author | Gylfe, A | |
dc.contributor.author | Hänninen, UA | |
dc.contributor.author | Cajuso, T | |
dc.contributor.author | Tanskanen, T | |
dc.contributor.author | Kondelin, J | |
dc.contributor.author | Kaasinen, E | |
dc.contributor.author | Sarin, A-P | |
dc.contributor.author | Kaprio, J | |
dc.contributor.author | Eriksson, JG | |
dc.contributor.author | Rissanen, H | |
dc.contributor.author | Knekt, P | |
dc.contributor.author | Pukkala, E | |
dc.contributor.author | Jousilahti, P | |
dc.contributor.author | Salomaa, V | |
dc.contributor.author | Ripatti, S | |
dc.contributor.author | Palotie, A | |
dc.contributor.author | Järvinen, H | |
dc.contributor.author | Renkonen-Sinisalo, L | |
dc.contributor.author | Lepistö, A | |
dc.contributor.author | Böhm, J | |
dc.contributor.author | Mecklin, J-P | |
dc.contributor.author | Al-Tassan, NA | |
dc.contributor.author | Palles, C | |
dc.contributor.author | Martin, L | |
dc.contributor.author | Barclay, E | |
dc.contributor.author | Tenesa, A | |
dc.contributor.author | Farrington, S | |
dc.contributor.author | Timofeeva, MN | |
dc.contributor.author | Meyer, BF | |
dc.contributor.author | Wakil, SM | |
dc.contributor.author | Campbell, H | |
dc.contributor.author | Smith, CG | |
dc.contributor.author | Idziaszczyk, S | |
dc.contributor.author | Maughan, TS | |
dc.contributor.author | Kaplan, R | |
dc.contributor.author | Kerr, R | |
dc.contributor.author | Kerr, D | |
dc.contributor.author | Buchanan, DD | |
dc.contributor.author | Win, AK | |
dc.contributor.author | Hopper, J | |
dc.contributor.author | Jenkins, M | |
dc.contributor.author | Lindor, NM | |
dc.contributor.author | Newcomb, PA | |
dc.contributor.author | Gallinger, S | |
dc.contributor.author | Conti, D | |
dc.contributor.author | Schumacher, F | |
dc.contributor.author | Casey, G | |
dc.contributor.author | Taipale, J | |
dc.contributor.author | Cheadle, JP | |
dc.contributor.author | Dunlop, MG | |
dc.contributor.author | Tomlinson, IP | |
dc.contributor.author | Aaltonen, LA | |
dc.contributor.author | Houlston, RS | |
dc.date.accessioned | 2017-01-04T14:41:05Z | |
dc.date.issued | 2016-06-01 | |
dc.identifier.citation | Human molecular genetics, 2016, 25 (11), pp. 2349 - 2359 | |
dc.identifier.issn | 0964-6906 | |
dc.identifier.uri | https://repository.icr.ac.uk/handle/internal/363 | |
dc.identifier.eissn | 1460-2083 | |
dc.identifier.doi | 10.1093/hmg/ddw087 | |
dc.description.abstract | To identify new risk loci for colorectal cancer (CRC), we conducted a meta-analysis of seven genome-wide association studies (GWAS) with independent replication, totalling 13 656 CRC cases and 21 667 controls of European ancestry. The combined analysis identified a new risk association for CRC at 2q35 marked by rs992157 (P = 3.15 × 10-8, odds ratio = 1.10, 95% confidence interval = 1.06-1.13), which is intronic to PNKD (paroxysmal non-kinesigenic dyskinesia) and TMBIM1 (transmembrane BAX inhibitor motif containing 1). Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r2 = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD). Following on from this observation we examined for pleiotropy, or shared genetic susceptibility, between CRC and the 200 established IBD risk loci, identifying an additional 11 significant associations (false discovery rate [FDR]) < 0.05). Our findings provide further insight into the biological basis of inherited genetic susceptibility to CRC, and identify risk factors that may influence the development of both CRC and IBD. | |
dc.format | Print-Electronic | |
dc.format.extent | 2349 - 2359 | |
dc.language | eng | |
dc.language.iso | eng | |
dc.publisher | OXFORD UNIV PRESS | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0 | |
dc.subject | Humans | |
dc.subject | Colorectal Neoplasms | |
dc.subject | Inflammatory Bowel Diseases | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Muscle Proteins | |
dc.subject | Membrane Proteins | |
dc.subject | Risk Factors | |
dc.subject | Linkage Disequilibrium | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Asian Continental Ancestry Group | |
dc.subject | European Continental Ancestry Group | |
dc.subject | Female | |
dc.subject | Male | |
dc.subject | Apoptosis Regulatory Proteins | |
dc.subject | Genome-Wide Association Study | |
dc.subject | Genetic Pleiotropy | |
dc.title | Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. | |
dc.type | Journal Article | |
dcterms.dateAccepted | 2016-03-14 | |
rioxxterms.versionofrecord | 10.1093/hmg/ddw087 | |
rioxxterms.licenseref.uri | https://creativecommons.org/licenses/by/4.0 | |
rioxxterms.licenseref.startdate | 2016-06 | |
rioxxterms.type | Journal Article/Review | |
dc.relation.isPartOf | Human molecular genetics | |
pubs.issue | 11 | |
pubs.notes | No embargo | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.organisational-group | /ICR | |
pubs.organisational-group | /ICR/Primary Group | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology | |
pubs.organisational-group | /ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Cancer Genomics | |
pubs.publication-status | Published | |
pubs.volume | 25 | |
pubs.embargo.terms | No embargo | |
icr.researchteam | Cancer Genomics | |
dc.contributor.icrauthor | Law, Philip | |
dc.contributor.icrauthor | Houlston, Richard | |