Literature DB >> 29917119

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

Stephanie L Schmit1,2, Christopher K Edlund2, Fredrick R Schumacher3, Jian Gong4, Tabitha A Harrison4, Jeroen R Huyghe4, Chenxu Qu2,4, Marilena Melas2, David J Van Den Berg2, Hansong Wang5, Stephanie Tring2,6,7, Sarah J Plummer8, Demetrius Albanes9, M Henar Alonso10,11,12, Christopher I Amos13, Kristen Anton13, Aaron K Aragaki4, Volker Arndt14, Elizabeth L Barry15, Sonja I Berndt9, Stéphane Bezieau4, Stephanie Bien16, Amanda Bloomer1, Juergen Boehm17, Marie-Christine Boutron-Ruault18,19, Hermann Brenner14,20,21, Stefanie Brezina22, Daniel D Buchanan23,24,25, Katja Butterbach14, Bette J Caan26, Peter T Campbell27, Christopher S Carlson4, Jose E Castelao28, Andrew T Chan29,30, Jenny Chang-Claude31,32,33, Stephen J Chanock9, Iona Cheng34, Ya-Wen Cheng35, Lee Soo Chin36, James M Church37, Timothy Church38, Gerhard A Coetzee39, Michelle Cotterchio40, Marcia Cruz Correa41, Keith R Curtis4, David Duggan42, Douglas F Easton43, Dallas English44, Edith J M Feskens45, Rocky Fischer46, Liesel M FitzGerald44,47, Barbara K Fortini48, Lars G Fritsche49,50, Charles S Fuchs51,52, Manuela Gago-Dominguez53,54, Manish Gala29, Steven J Gallinger55, W James Gauderman2, Graham G Giles23,44, Edward L Giovannucci32,56, Stephanie M Gogarten57, Clicerio Gonzalez-Villalpando58, Elena M Gonzalez-Villalpando59, William M Grady60, Joel K Greenson61, Andrea Gsur62, Marc Gunter30, Christopher A Haiman2, Jochen Hampe63, Sophia Harlid64, John F Harju46, Richard B Hayes65, Philipp Hofer62, Michael Hoffmeister14, John L Hopper66, Shu-Chen Huang2, Jose Maria Huerta67, Thomas J Hudson68,69, David J Hunter70, Gregory E Idos2, Motoki Iwasaki71, Rebecca D Jackson72, Eric J Jacobs27, Sun Ha Jee73, Mark A Jenkins23, Wei-Hua Jia74, Shuo Jiao4, Amit D Joshi30,70, Laurence N Kolonel75, Suminori Kono22, Charles Kooperberg4, Vittorio Krogh76, Tilman Kuehn77, Sébastien Küry78, Andrea LaCroix4, Cecelia A Laurie57, Flavio Lejbkowicz1, Mathieu Lemire69, Heinz-Josef Lenz2,79, David Levine57, Christopher I Li80, Li Li81, Wolfgang Lieb82, Yi Lin4, Noralane M Lindor83, Yun-Ru Liu84, Fotios Loupakis35, Yingchang Lu85, Frank Luh86, Jing Ma87, Christoph Mancao88, Frank J Manion46, Sanford D Markowitz89, Vicente Martin90, Koichi Matsuda91, Keitaro Matsuo92,93, Kevin J McDonnell2, Caroline E McNeil2, Roger Milne23,44, Antonio J Molina11,94, Bhramar Mukherjee46, Neil Murphy95, Polly A Newcomb4, Kenneth Offit96, Hanane Omichessan18,19, Domenico Palli97, Jesus P Paredes Cotoré98, Julyann Pérez-Mayoral99, Paul D Pharoah100, John D Potter4, Conghui Qu2,4, Leon Raskin85,91, Gad Rennert86,101,102, Hedy S Rennert86,101, Bridget M Riggs1, Clemens Schafmayer103, Robert E Schoen104, Thomas A Sellers1, Daniela Seminara105, Gianluca Severi18,106, Wei Shi107, David Shibata108, Xiao-Ou Shu85,91, Erin M Siegel1, Martha L Slattery109, Melissa Southey24, Zsofia K Stadler96,110, Mariana C Stern2, Sebastian Stintzing111, Darin Taverna112, Stephen N Thibodeau113, Duncan C Thomas2, Antonia Trichopoulou114, Shoichiro Tsugane2,6,7, Cornelia M Ulrich17, Franzel J B van Duijnhoven45, Bethany van Guelpan, Joseph Vijai96, Jarmo Virtamo115, Stephanie J Weinstein9, Emily White4, Aung Ko Win23, Alicja Wolk116, Michael Woods117, Anna H Wu2, Kana Wu118, Yong-Bing Xiang119, Yun Yen35,120, Brent W Zanke121,122, Yi-Xin Zeng74, Ben Zhang123, Niha Zubair4, Sun-Seog Kweon124,125, Jane C Figueiredo126,127, Wei Zheng85,91, Loic Le Marchand5, Annika Lindblom128, Victor Moreno10,11,12, Ulrike Peters129, Graham Casey8, Li Hsu4, David V Conti2, Stephen B Gruber2,79.   

Abstract

BACKGROUND: Previous genome-wide association studies (GWAS) have identified 42 loci (P < 5 × 10-8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts facilitating the discovery of additional susceptibility loci may capture unexplained familial risk.
METHODS: We conducted a GWAS in European descent CRC cases and control subjects using a discovery-replication design, followed by examination of novel findings in a multiethnic sample (cumulative n = 163 315). In the discovery stage (36 948 case subjects/30 864 control subjects), we identified genetic variants with a minor allele frequency of 1% or greater associated with risk of CRC using logistic regression followed by a fixed-effects inverse variance weighted meta-analysis. All novel independent variants reaching genome-wide statistical significance (two-sided P < 5 × 10-8) were tested for replication in separate European ancestry samples (12 952 case subjects/48 383 control subjects). Next, we examined the generalizability of discovered variants in East Asians, African Americans, and Hispanics (12 085 case subjects/22 083 control subjects). Finally, we examined the contributions of novel risk variants to familial relative risk and examined the prediction capabilities of a polygenic risk score. All statistical tests were two-sided.
RESULTS: The discovery GWAS identified 11 variants associated with CRC at P < 5 × 10-8, of which nine (at 4q22.2/5p15.33/5p13.1/6p21.31/6p12.1/10q11.23/12q24.21/16q24.1/20q13.13) independently replicated at a P value of less than .05. Multiethnic follow-up supported the generalizability of discovery findings. These results demonstrated a 14.7% increase in familial relative risk explained by common risk alleles from 10.3% (95% confidence interval [CI] = 7.9% to 13.7%; known variants) to 11.9% (95% CI = 9.2% to 15.5%; known and novel variants). A polygenic risk score identified 4.3% of the population at an odds ratio for developing CRC of at least 2.0.
CONCLUSIONS: This study provides insight into the architecture of common genetic variation contributing to CRC etiology and improves risk prediction for individualized screening.
© The Author(s) 2018. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

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Mesh:

Year:  2019        PMID: 29917119      PMCID: PMC6555904          DOI: 10.1093/jnci/djy099

Source DB:  PubMed          Journal:  J Natl Cancer Inst        ISSN: 0027-8874            Impact factor:   13.506


  35 in total

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Journal:  Nat Genet       Date:  2007-10-14       Impact factor: 38.330

3.  Genetic variation in 8q24 associated with risk of colorectal cancer.

Authors:  Stephen B Gruber; Victor Moreno; Laura S Rozek; Hedy S Rennerts; Flavio Lejbkowicz; Joseph D Bonner; Joel K Greenson; Thomas J Giordano; Eric R Fearson; Gad Rennert
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4.  Genome-wide association study of prostate cancer identifies a second risk locus at 8q24.

Authors:  Meredith Yeager; Nick Orr; Richard B Hayes; Kevin B Jacobs; Peter Kraft; Sholom Wacholder; Mark J Minichiello; Paul Fearnhead; Kai Yu; Nilanjan Chatterjee; Zhaoming Wang; Robert Welch; Brian J Staats; Eugenia E Calle; Heather Spencer Feigelson; Michael J Thun; Carmen Rodriguez; Demetrius Albanes; Jarmo Virtamo; Stephanie Weinstein; Fredrick R Schumacher; Edward Giovannucci; Walter C Willett; Geraldine Cancel-Tassin; Olivier Cussenot; Antoine Valeri; Gerald L Andriole; Edward P Gelmann; Margaret Tucker; Daniela S Gerhard; Joseph F Fraumeni; Robert Hoover; David J Hunter; Stephen J Chanock; Gilles Thomas
Journal:  Nat Genet       Date:  2007-04-01       Impact factor: 38.330

5.  Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland.

Authors:  P Lichtenstein; N V Holm; P K Verkasalo; A Iliadou; J Kaprio; M Koskenvuo; E Pukkala; A Skytthe; K Hemminki
Journal:  N Engl J Med       Date:  2000-07-13       Impact factor: 91.245

6.  A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.

Authors:  Maria Teresa Landi; Nilanjan Chatterjee; Kai Yu; Lynn R Goldin; Alisa M Goldstein; Melissa Rotunno; Lisa Mirabello; Kevin Jacobs; William Wheeler; Meredith Yeager; Andrew W Bergen; Qizhai Li; Dario Consonni; Angela C Pesatori; Sholom Wacholder; Michael Thun; Ryan Diver; Martin Oken; Jarmo Virtamo; Demetrius Albanes; Zhaoming Wang; Laurie Burdette; Kimberly F Doheny; Elizabeth W Pugh; Cathy Laurie; Paul Brennan; Rayjean Hung; Valerie Gaborieau; James D McKay; Mark Lathrop; John McLaughlin; Ying Wang; Ming-Sound Tsao; Margaret R Spitz; Yufei Wang; Hans Krokan; Lars Vatten; Frank Skorpen; Egil Arnesen; Simone Benhamou; Christine Bouchard; Andres Metspalu; Andres Metsapalu; Tonu Vooder; Mari Nelis; Kristian Välk; John K Field; Chu Chen; Gary Goodman; Patrick Sulem; Gudmar Thorleifsson; Thorunn Rafnar; Timothy Eisen; Wiebke Sauter; Albert Rosenberger; Heike Bickeböller; Angela Risch; Jenny Chang-Claude; H Erich Wichmann; Kari Stefansson; Richard Houlston; Christopher I Amos; Joseph F Fraumeni; Sharon A Savage; Pier Alberto Bertazzi; Margaret A Tucker; Stephen Chanock; Neil E Caporaso
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Authors:  Laufey Amundadottir; Peter Kraft; Rachael Z Stolzenberg-Solomon; Charles S Fuchs; Gloria M Petersen; Alan A Arslan; H Bas Bueno-de-Mesquita; Myron Gross; Kathy Helzlsouer; Eric J Jacobs; Andrea LaCroix; Wei Zheng; Demetrius Albanes; William Bamlet; Christine D Berg; Franco Berrino; Sheila Bingham; Julie E Buring; Paige M Bracci; Federico Canzian; Françoise Clavel-Chapelon; Sandra Clipp; Michelle Cotterchio; Mariza de Andrade; Eric J Duell; John W Fox; Steven Gallinger; J Michael Gaziano; Edward L Giovannucci; Michael Goggins; Carlos A González; Göran Hallmans; Susan E Hankinson; Manal Hassan; Elizabeth A Holly; David J Hunter; Amy Hutchinson; Rebecca Jackson; Kevin B Jacobs; Mazda Jenab; Rudolf Kaaks; Alison P Klein; Charles Kooperberg; Robert C Kurtz; Donghui Li; Shannon M Lynch; Margaret Mandelson; Robert R McWilliams; Julie B Mendelsohn; Dominique S Michaud; Sara H Olson; Kim Overvad; Alpa V Patel; Petra H M Peeters; Aleksandar Rajkovic; Elio Riboli; Harvey A Risch; Xiao-Ou Shu; Gilles Thomas; Geoffrey S Tobias; Dimitrios Trichopoulos; Stephen K Van Den Eeden; Jarmo Virtamo; Jean Wactawski-Wende; Brian M Wolpin; Herbert Yu; Kai Yu; Anne Zeleniuch-Jacquotte; Stephen J Chanock; Patricia Hartge; Robert N Hoover
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9.  Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

Authors:  Richard S Houlston; Emily Webb; Peter Broderick; Alan M Pittman; Maria Chiara Di Bernardo; Steven Lubbe; Ian Chandler; Jayaram Vijayakrishnan; Kate Sullivan; Steven Penegar; Luis Carvajal-Carmona; Kimberley Howarth; Emma Jaeger; Sarah L Spain; Axel Walther; Ella Barclay; Lynn Martin; Maggie Gorman; Enric Domingo; Ana S Teixeira; David Kerr; Jean-Baptiste Cazier; Iina Niittymäki; Sari Tuupanen; Auli Karhu; Lauri A Aaltonen; Ian P M Tomlinson; Susan M Farrington; Albert Tenesa; James G D Prendergast; Rebecca A Barnetson; Roseanne Cetnarskyj; Mary E Porteous; Paul D P Pharoah; Thibaud Koessler; Jochen Hampe; Stephan Buch; Clemens Schafmayer; Jurgen Tepel; Stefan Schreiber; Henry Völzke; Jenny Chang-Claude; Michael Hoffmeister; Hermann Brenner; Brent W Zanke; Alexandre Montpetit; Thomas J Hudson; Steven Gallinger; Harry Campbell; Malcolm G Dunlop
Journal:  Nat Genet       Date:  2008-11-16       Impact factor: 38.330

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