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Article: Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

TitleRefinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
Authors
Pittman, AMWebb, ECarvajalCarmona, LHowarth, KDi Bernardo, MCBroderick, PSpain, SWalther, APrice, ASullivan, KTwiss, PFielding, SRowan, AJaeger, EVijayakrishnan, JChandler, IPenegar, SQureshi, MLubbe, SDomingo, EKemp, ZBarclay, EWood, WMartin, LGorman, MThomas, HPeto, JBishop, TGray, RMaher, ERLucassen, AKerr, DEvans, GRvan Wezel, TMorreau, HWijnen, JTHopper, JLSouthey, MCGiles, GGSeveri, GCastellvíBel, SRuizPonte, CCarracedo, ACastells, AFörsti, AHemminki, KVodicka, PNaccarati, ALipton, LHo, JWCCheng, KKSham, PCLuk, JAgúndez, JAGLadero, JMde la Hoya, MCaldés, TNiittymäki, ITuupanen, SKarhu, AAaltonen, LACazier, JBTomlinson, IPMHoulston, RS
Issue Date2008
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 2008, v. 17 n. 23, p. 3720-3727 How to Cite?
DOI: http://dx.doi.org/10.1093/hmg/ddn267
AbstractThe common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To examine this association in detail we genotyped rs3802842 in eight independent case-control series comprising a total of 10 638 cases and 10 457 healthy individuals. A significant association between the C allele of rs3802842 and CRC risk was found (per allele OR = 1.17; 95% confidence interval [CI]: 1.12-1.22; P = 1.08 × 10 -12) with the risk allele more frequent in rectal than colonic disease (P = 0.02). In combination with 8q21, 8q24, 10p14, 11q, 15q13.3 and 18q21 variants, the risk of CRC increases with an increasing numbers of variant alleles for the six loci (OR per allele = 1.19; 95% CI: 1.15-1.23; P trend = 7.4 × 10 -24). Using the data from our genome-wide association study of CRC, LD mapping and imputation, we were able to refine the location of the causal locus to a 60 kb region and screened for coding changes. The absence of exonic mutations in any of the transcripts (FLJ45803, LOC120376, C11orf53 and POU2AF1) mapping to this region makes the association likely to be a consequence of non-coding effects on gene expression. © The Author 2008. Published by Oxford University Press. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/59697
ISSN
0964-6906
2023 Impact Factor: 3.1
2023 SCImago Journal Rankings: 1.602
ISI Accession Number ID
WOS:000260980800010
Funding AgencyGrant Number
Cancer Research UK
Institute of Cancer Research
European UnionLSHC-CT-2004-503465
Bobby Moore Fund
CORE
Thomas Falknor Fund
St. George's Hospital Medical School
Fondo de Investigacion Sanitaria03/0070
05/0071
05/2031
Ministerio de Educacion y CienciaSAF 04-07190
07-64873
Asociacion Espanola contra el Cancer
Merck, Co
Xunta de GaliciaPGI-DIT07PXIB9101209PR
Fundacion Olga Torres
Fundacion de Investigacion Medica Mutua Madrilena
Instituto de Salud Carlos III
Ministerio de Sanidad
FIS051056
RD07/0064/0016
Instituto de Salud Carlos III, Madrid, Spain
Academy of Finland
Finnish Cancer Society
Sigrid Juselius Foundation
European Commission9LSHG-CT2004-512142
Deutsche Krebshilfe
German Ministry of Education and Research01GS0426
01GR0468
Medical Faculty, Kiel
Federal Ministry of Education and ResearchZZ9603
Ministry of Cultural Affairs
Social Ministry of the Federal State of Mecklenburg-West Pomerania. Leiden
Dutch Cancer SocietyUL2005-3247
Medical Ethical CommitteeP01.019
Dutch Federation of Medical Sciences, Madrid
Fondo Investigacion SanitariaPI070316
RD06/0020/0021
National Health and Medical Research Council (NHMRC)209057
251533
396414
Cancer Council Victoria
NHMRC Australia
GACR310/07/1430
Funding Information:

Cancer Research UK provided principal funding for this study. Institute of Cancer Research: Additional funding was provided by the European Union (CPRB LSHC-CT-2004-503465), the Bobby Moore Fund, CORE and the Thomas Falknor Fund. I. C. was in receipt of a clinical training fellowship from St. George's Hospital Medical School. London Institute: Additional funding was provided by CORE and the Bobby Moore Fund. Barcelona: We are sincerely grateful to all patients participating in this study that were recruited in 25 Spanish hospitals as part of the EPI-COLON project. This work was supported by grants from the Fondo de Investigacion Sanitaria (03/0070, 05/0071 and 05/2031), from the Ministerio de Educacion y Ciencia (SAF 04-07190 and 07-64873), the Asociacion Espanola contra el Cancer, from Merck, Co, from the Xunta de Galicia (PGI-DIT07PXIB9101209PR), from Fundacion Olga Torres (S. C.- B.), and from Fundacion de Investigacion Medica Mutua Madrilena (C. R.- P.). CIBEREHD and CIBERER are funded by the Instituto de Salud Carlos III. S. C.- B. is supported by a contract from the Fondo de Investigacion Sanitaria ( CP 03-0070, Ministerio de Sanidad). Extremadura: Work was supported by grants FIS 051056 and RD07/0064/0016 from Instituto de Salud Carlos III, Madrid, Spain. Finland: This work was supported by grants from Academy of Finland ( Finnish Centre of Excellence Program 2006 - 2011), the Finnish Cancer Society, the Sigrid Juselius Foundation and the European Commission 9LSHG-CT2004-512142). Heidelberg: Supported by Deutsche Krebshilfe and the Swedish Cancer Society. Kiel: This study was supported by the German Ministry of Education and Research through the National Genome Research Network through the POPGEN biobank project ( 01GS0426, 01GR0468) and the Medical Faculty, Kiel. The SHIP recuitment project is funded by the Federal Ministry of Education and Research ( ZZ9603), the Ministry of Cultural Affairs as well as the Social Ministry of the Federal State of Mecklenburg-West Pomerania. Leiden: DFCCS was supported by Dutch Cancer Society grant UL2005-3247 and approved by the local Medical Ethical Committee ( protocol P01.019); samples were handled according to Code Proper Secondary Use of Human Tissue by the Dutch Federation of Medical Sciences (www.federa.org). Madrid: Work was supported by the Fondo Investigacion Sanitaria (PI070316 and RD06/0020/0021). Melbourne: The Melbourne Collaborative Cohort Study is supported by National Health and Medical Research Council (NHMRC) grants 209057, 251533 and 396414 and receives core funding and infrastructure support from the The Cancer Council Victoria. J. L. H. is a NHMRC Australia Fellow and M. C. S. is a NHMRC Senior Research Fellow. We would like to acknowledge Mr Fabrice Odefrey for performing the genotyping. Prague: Supported by the grant GACR310/07/1430.

References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorPittman, AMen_HK
dc.contributor.authorWebb, Een_HK
dc.contributor.authorCarvajalCarmona, Len_HK
dc.contributor.authorHowarth, Ken_HK
dc.contributor.authorDi Bernardo, MCen_HK
dc.contributor.authorBroderick, Pen_HK
dc.contributor.authorSpain, Sen_HK
dc.contributor.authorWalther, Aen_HK
dc.contributor.authorPrice, Aen_HK
dc.contributor.authorSullivan, Ken_HK
dc.contributor.authorTwiss, Pen_HK
dc.contributor.authorFielding, Sen_HK
dc.contributor.authorRowan, Aen_HK
dc.contributor.authorJaeger, Een_HK
dc.contributor.authorVijayakrishnan, Jen_HK
dc.contributor.authorChandler, Ien_HK
dc.contributor.authorPenegar, Sen_HK
dc.contributor.authorQureshi, Men_HK
dc.contributor.authorLubbe, Sen_HK
dc.contributor.authorDomingo, Een_HK
dc.contributor.authorKemp, Zen_HK
dc.contributor.authorBarclay, Een_HK
dc.contributor.authorWood, Wen_HK
dc.contributor.authorMartin, Len_HK
dc.contributor.authorGorman, Men_HK
dc.contributor.authorThomas, Hen_HK
dc.contributor.authorPeto, Jen_HK
dc.contributor.authorBishop, Ten_HK
dc.contributor.authorGray, Ren_HK
dc.contributor.authorMaher, ERen_HK
dc.contributor.authorLucassen, Aen_HK
dc.contributor.authorKerr, Den_HK
dc.contributor.authorEvans, GRen_HK
dc.contributor.authorvan Wezel, Ten_HK
dc.contributor.authorMorreau, Hen_HK
dc.contributor.authorWijnen, JTen_HK
dc.contributor.authorHopper, JLen_HK
dc.contributor.authorSouthey, MCen_HK
dc.contributor.authorGiles, GGen_HK
dc.contributor.authorSeveri, Gen_HK
dc.contributor.authorCastellvíBel, Sen_HK
dc.contributor.authorRuizPonte, Cen_HK
dc.contributor.authorCarracedo, Aen_HK
dc.contributor.authorCastells, Aen_HK
dc.contributor.authorFörsti, Aen_HK
dc.contributor.authorHemminki, Ken_HK
dc.contributor.authorVodicka, Pen_HK
dc.contributor.authorNaccarati, Aen_HK
dc.contributor.authorLipton, Len_HK
dc.contributor.authorHo, JWCen_HK
dc.contributor.authorCheng, KKen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorLuk, Jen_HK
dc.contributor.authorAgúndez, JAGen_HK
dc.contributor.authorLadero, JMen_HK
dc.contributor.authorde la Hoya, Men_HK
dc.contributor.authorCaldés, Ten_HK
dc.contributor.authorNiittymäki, Ien_HK
dc.contributor.authorTuupanen, Sen_HK
dc.contributor.authorKarhu, Aen_HK
dc.contributor.authorAaltonen, LAen_HK
dc.contributor.authorCazier, JBen_HK
dc.contributor.authorTomlinson, IPMen_HK
dc.contributor.authorHoulston, RSen_HK
dc.date.accessioned2010-05-31T03:55:36Z-
dc.date.available2010-05-31T03:55:36Z-
dc.date.issued2008en_HK
dc.identifier.citationHuman Molecular Genetics, 2008, v. 17 n. 23, p. 3720-3727en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/59697-
dc.description.abstractThe common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To examine this association in detail we genotyped rs3802842 in eight independent case-control series comprising a total of 10 638 cases and 10 457 healthy individuals. A significant association between the C allele of rs3802842 and CRC risk was found (per allele OR = 1.17; 95% confidence interval [CI]: 1.12-1.22; P = 1.08 × 10 -12) with the risk allele more frequent in rectal than colonic disease (P = 0.02). In combination with 8q21, 8q24, 10p14, 11q, 15q13.3 and 18q21 variants, the risk of CRC increases with an increasing numbers of variant alleles for the six loci (OR per allele = 1.19; 95% CI: 1.15-1.23; P trend = 7.4 × 10 -24). Using the data from our genome-wide association study of CRC, LD mapping and imputation, we were able to refine the location of the causal locus to a 60 kb region and screened for coding changes. The absence of exonic mutations in any of the transcripts (FLJ45803, LOC120376, C11orf53 and POU2AF1) mapping to this region makes the association likely to be a consequence of non-coding effects on gene expression. © The Author 2008. Published by Oxford University Press. All rights reserved.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.rightsHuman Molecular Genetics. Copyright © Oxford University Press.en_HK
dc.titleRefinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal canceren_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0964-6906&volume=17 &issue=3&spage=3720&epage=3727&date=2008&atitle=Refinement+of+the+basis+and+impact+of+common+11q23.1+variation+to+the+risk+of+developing+colorectal+canceren_HK
dc.identifier.emailCheng, KK: dorncky@hkucc.hku.hken_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailLuk, J: jmluk@hkucc.hku.hken_HK
dc.identifier.authorityCheng, KK=rp01672en_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityLuk, J=rp00349en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1093/hmg/ddn267en_HK
dc.identifier.pmid18753146-
dc.identifier.scopuseid_2-s2.0-56049119387en_HK
dc.identifier.hkuros157998en_HK
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dc.identifier.volume17en_HK
dc.identifier.issue23en_HK
dc.identifier.spage3720en_HK
dc.identifier.epage3727en_HK
dc.identifier.isiWOS:000260980800010-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridPittman, AM=7005706455en_HK
dc.identifier.scopusauthoridWebb, E=9744209600en_HK
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dc.identifier.scopusauthoridDi Bernardo, MC=25821794500en_HK
dc.identifier.scopusauthoridBroderick, P=15053139600en_HK
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dc.identifier.scopusauthoridJaeger, E=14007373500en_HK
dc.identifier.scopusauthoridVijayakrishnan, J=22952448000en_HK
dc.identifier.scopusauthoridChandler, I=15053046300en_HK
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dc.identifier.issnl0964-6906-

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