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Discovery of common and rare genetic risk variants for colorectal cancer.


ABSTRACT: To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P?

SUBMITTER: Huyghe JR 

PROVIDER: S-EPMC6358437 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Discovery of common and rare genetic risk variants for colorectal cancer.

Huyghe Jeroen R JR   Bien Stephanie A SA   Harrison Tabitha A TA   Kang Hyun Min HM   Chen Sai S   Schmit Stephanie L SL   Conti David V DV   Qu Conghui C   Jeon Jihyoun J   Edlund Christopher K CK   Greenside Peyton P   Wainberg Michael M   Schumacher Fredrick R FR   Smith Joshua D JD   Levine David M DM   Nelson Sarah C SC   Sinnott-Armstrong Nasa A NA   Albanes Demetrius D   Alonso M Henar MH   Anderson Kristin K   Arnau-Collell Coral C   Arndt Volker V   Bamia Christina C   Banbury Barbara L BL   Baron John A JA   Berndt Sonja I SI   Bézieau Stéphane S   Bishop D Timothy DT   Boehm Juergen J   Boeing Heiner H   Brenner Hermann H   Brezina Stefanie S   Buch Stephan S   Buchanan Daniel D DD   Burnett-Hartman Andrea A   Butterbach Katja K   Caan Bette J BJ   Campbell Peter T PT   Carlson Christopher S CS   Castellví-Bel Sergi S   Chan Andrew T AT   Chang-Claude Jenny J   Chanock Stephen J SJ   Chirlaque Maria-Dolores MD   Cho Sang Hee SH   Connolly Charles M CM   Cross Amanda J AJ   Cuk Katarina K   Curtis Keith R KR   de la Chapelle Albert A   Doheny Kimberly F KF   Duggan David D   Easton Douglas F DF   Elias Sjoerd G SG   Elliott Faye F   English Dallas R DR   Feskens Edith J M EJM   Figueiredo Jane C JC   Fischer Rocky R   FitzGerald Liesel M LM   Forman David D   Gala Manish M   Gallinger Steven S   Gauderman W James WJ   Giles Graham G GG   Gillanders Elizabeth E   Gong Jian J   Goodman Phyllis J PJ   Grady William M WM   Grove John S JS   Gsur Andrea A   Gunter Marc J MJ   Haile Robert W RW   Hampe Jochen J   Hampel Heather H   Harlid Sophia S   Hayes Richard B RB   Hofer Philipp P   Hoffmeister Michael M   Hopper John L JL   Hsu Wan-Ling WL   Huang Wen-Yi WY   Hudson Thomas J TJ   Hunter David J DJ   Ibañez-Sanz Gemma G   Idos Gregory E GE   Ingersoll Roxann R   Jackson Rebecca D RD   Jacobs Eric J EJ   Jenkins Mark A MA   Joshi Amit D AD   Joshu Corinne E CE   Keku Temitope O TO   Key Timothy J TJ   Kim Hyeong Rok HR   Kobayashi Emiko E   Kolonel Laurence N LN   Kooperberg Charles C   Kühn Tilman T   Küry Sébastien S   Kweon Sun-Seog SS   Larsson Susanna C SC   Laurie Cecelia A CA   Le Marchand Loic L   Leal Suzanne M SM   Lee Soo Chin SC   Lejbkowicz Flavio F   Lemire Mathieu M   Li Christopher I CI   Li Li L   Lieb Wolfgang W   Lin Yi Y   Lindblom Annika A   Lindor Noralane M NM   Ling Hua H   Louie Tin L TL   Männistö Satu S   Markowitz Sanford D SD   Martín Vicente V   Masala Giovanna G   McNeil Caroline E CE   Melas Marilena M   Milne Roger L RL   Moreno Lorena L   Murphy Neil N   Myte Robin R   Naccarati Alessio A   Newcomb Polly A PA   Offit Kenneth K   Ogino Shuji S   Onland-Moret N Charlotte NC   Pardini Barbara B   Parfrey Patrick S PS   Pearlman Rachel R   Perduca Vittorio V   Pharoah Paul D P PDP   Pinchev Mila M   Platz Elizabeth A EA   Prentice Ross L RL   Pugh Elizabeth E   Raskin Leon L   Rennert Gad G   Rennert Hedy S HS   Riboli Elio E   Rodríguez-Barranco Miguel M   Romm Jane J   Sakoda Lori C LC   Schafmayer Clemens C   Schoen Robert E RE   Seminara Daniela D   Shah Mitul M   Shelford Tameka T   Shin Min-Ho MH   Shulman Katerina K   Sieri Sabina S   Slattery Martha L ML   Southey Melissa C MC   Stadler Zsofia K ZK   Stegmaier Christa C   Su Yu-Ru YR   Tangen Catherine M CM   Thibodeau Stephen N SN   Thomas Duncan C DC   Thomas Sushma S SS   Toland Amanda E AE   Trichopoulou Antonia A   Ulrich Cornelia M CM   Van Den Berg David J DJ   van Duijnhoven Franzel J B FJB   Van Guelpen Bethany B   van Kranen Henk H   Vijai Joseph J   Visvanathan Kala K   Vodicka Pavel P   Vodickova Ludmila L   Vymetalkova Veronika V   Weigl Korbinian K   Weinstein Stephanie J SJ   White Emily E   Win Aung Ko AK   Wolf C Roland CR   Wolk Alicja A   Woods Michael O MO   Wu Anna H AH   Zaidi Syed H SH   Zanke Brent W BW   Zhang Qing Q   Zheng Wei W   Scacheri Peter C PC   Potter John D JD   Bassik Michael C MC   Kundaje Anshul A   Casey Graham G   Moreno Victor V   Abecasis Goncalo R GR   Nickerson Deborah A DA   Gruber Stephen B SB   Hsu Li L   Peters Ulrike U  

Nature genetics 20181203 1


To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome-wide association study data, and tested for association in 34,869 cases and 29,051 controls. Findings were followed up in an additional 23,262 cases and 38,296 controls. We discovered a strongly protective 0.3% frequency variant signal at CHD1. In a combined  ...[more]

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