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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 11238naa a2202581 4500 | |
| 001 | oai:DiVA.org:uu-368168 | |
| 003 | SwePub | |
| 008 | 181204s2019 | |||||||||||000 ||eng| | |
| 009 | oai:DiVA.org:umu-159635 | |
| 009 | oai:prod.swepub.kib.ki.se:140902537 | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3681682 URI |
| 024 | 7 | a https://doi.org/10.1093/jnci/djy0992 DOI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1596352 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1409025372 URI |
| 040 | a (SwePub)uud (SwePub)umud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Schmit, Stephanie L4 aut |
| 245 | 1 0 | a Novel Common Genetic Susceptibility Loci for Colorectal Cancer. |
| 264 | c 2018-06-16 | |
| 264 | 1 | b Oxford University Press (OUP),c 2019 |
| 338 | a print2 rdacarrier | |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 700 | 1 | a Edlund, Christopher K4 aut |
| 700 | 1 | a Schumacher, Fredrick R4 aut |
| 700 | 1 | a Gong, Jian4 aut |
| 700 | 1 | a Harrison, Tabitha A4 aut |
| 700 | 1 | a Huyghe, Jeroen R4 aut |
| 700 | 1 | a Qu, Chenxu4 aut |
| 700 | 1 | a Melas, Marilena4 aut |
| 700 | 1 | a Van Den Berg, David J4 aut |
| 700 | 1 | a Wang, Hansong4 aut |
| 700 | 1 | a Tring, Stephanie4 aut |
| 700 | 1 | a Plummer, Sarah J4 aut |
| 700 | 1 | a Albanes, Demetrius4 aut |
| 700 | 1 | a Alonso, M Henar4 aut |
| 700 | 1 | a Amos, Christopher I4 aut |
| 700 | 1 | a Anton, Kristen4 aut |
| 700 | 1 | a Aragaki, Aaron K4 aut |
| 700 | 1 | a Arndt, Volker4 aut |
| 700 | 1 | a Barry, Elizabeth L4 aut |
| 700 | 1 | a Berndt, Sonja I4 aut |
| 700 | 1 | a Bezieau, Stéphane4 aut |
| 700 | 1 | a Bien, Stephanie4 aut |
| 700 | 1 | a Bloomer, Amanda4 aut |
| 700 | 1 | a Boehm, Juergen4 aut |
| 700 | 1 | a Boutron-Ruault, Marie-Christine4 aut |
| 700 | 1 | a Brenner, Hermann4 aut |
| 700 | 1 | a Brezina, Stefanie4 aut |
| 700 | 1 | a Buchanan, Daniel D4 aut |
| 700 | 1 | a Butterbach, Katja4 aut |
| 700 | 1 | a Caan, Bette J4 aut |
| 700 | 1 | a Campbell, Peter T4 aut |
| 700 | 1 | a Carlson, Christopher S4 aut |
| 700 | 1 | a Castelao, Jose E4 aut |
| 700 | 1 | a Chan, Andrew T4 aut |
| 700 | 1 | a Chang-Claude, Jenny4 aut |
| 700 | 1 | a Chanock, Stephen J4 aut |
| 700 | 1 | a Cheng, Iona4 aut |
| 700 | 1 | a Cheng, Ya-Wen4 aut |
| 700 | 1 | a Chin, Lee Soo4 aut |
| 700 | 1 | a Church, James M4 aut |
| 700 | 1 | a Church, Timothy4 aut |
| 700 | 1 | a Coetzee, Gerhard A4 aut |
| 700 | 1 | a Cotterchio, Michelle4 aut |
| 700 | 1 | a Cruz Correa, Marcia4 aut |
| 700 | 1 | a Curtis, Keith R4 aut |
| 700 | 1 | a Duggan, David4 aut |
| 700 | 1 | a Easton, Douglas F4 aut |
| 700 | 1 | a English, Dallas4 aut |
| 700 | 1 | a Feskens, Edith J M4 aut |
| 700 | 1 | a Fischer, Rocky4 aut |
| 700 | 1 | a FitzGerald, Liesel M4 aut |
| 700 | 1 | a Fortini, Barbara K4 aut |
| 700 | 1 | a Fritsche, Lars G4 aut |
| 700 | 1 | a Fuchs, Charles S4 aut |
| 700 | 1 | a Gago-Dominguez, Manuela4 aut |
| 700 | 1 | a Gala, Manish4 aut |
| 700 | 1 | a Gallinger, Steven J4 aut |
| 700 | 1 | a Gauderman, W James4 aut |
| 700 | 1 | a Giles, Graham G4 aut |
| 700 | 1 | a Giovannucci, Edward L4 aut |
| 700 | 1 | a Gogarten, Stephanie M4 aut |
| 700 | 1 | a Gonzalez-Villalpando, Clicerio4 aut |
| 700 | 1 | a Gonzalez-Villalpando, Elena M4 aut |
| 700 | 1 | a Grady, William M4 aut |
| 700 | 1 | a Greenson, Joel K4 aut |
| 700 | 1 | a Gsur, Andrea4 aut |
| 700 | 1 | a Gunter, Marc4 aut |
| 700 | 1 | a Haiman, Christopher A4 aut |
| 700 | 1 | a Hampe, Jochen4 aut |
| 700 | 1 | a Harlid, Sophia,d 1978-u Umeå universitet,Onkologi,Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden.4 aut0 (Swepub:umu)soha0105 |
| 700 | 1 | a Harju, John F4 aut |
| 700 | 1 | a Hayes, Richard B4 aut |
| 700 | 1 | a Hofer, Philipp4 aut |
| 700 | 1 | a Hoffmeister, Michael4 aut |
| 700 | 1 | a Hopper, John L4 aut |
| 700 | 1 | a Huang, Shu-Chen4 aut |
| 700 | 1 | a Huerta, Jose Maria4 aut |
| 700 | 1 | a Hudson, Thomas J4 aut |
| 700 | 1 | a Hunter, David J4 aut |
| 700 | 1 | a Idos, Gregory E4 aut |
| 700 | 1 | a Iwasaki, Motoki4 aut |
| 700 | 1 | a Jackson, Rebecca D4 aut |
| 700 | 1 | a Jacobs, Eric J4 aut |
| 700 | 1 | a Jee, Sun Ha4 aut |
| 700 | 1 | a Jenkins, Mark A4 aut |
| 700 | 1 | a Jia, Wei-Hua4 aut |
| 700 | 1 | a Jiao, Shuo4 aut |
| 700 | 1 | a Joshi, Amit D4 aut |
| 700 | 1 | a Kolonel, Laurence N4 aut |
| 700 | 1 | a Kono, Suminori4 aut |
| 700 | 1 | a Kooperberg, Charles4 aut |
| 700 | 1 | a Krogh, Vittorio4 aut |
| 700 | 1 | a Kuehn, Tilman4 aut |
| 700 | 1 | a Küry, Sébastien4 aut |
| 700 | 1 | a LaCroix, Andrea4 aut |
| 700 | 1 | a Laurie, Cecelia A4 aut |
| 700 | 1 | a Lejbkowicz, Flavio4 aut |
| 700 | 1 | a Lemire, Mathieu4 aut |
| 700 | 1 | a Lenz, Heinz-Josef4 aut |
| 700 | 1 | a Levine, David4 aut |
| 700 | 1 | a Li, Christopher I4 aut |
| 700 | 1 | a Li, Li4 aut |
| 700 | 1 | a Lieb, Wolfgang4 aut |
| 700 | 1 | a Lin, Yi4 aut |
| 700 | 1 | a Lindor, Noralane M4 aut |
| 700 | 1 | a Liu, Yun-Ru4 aut |
| 700 | 1 | a Loupakis, Fotios4 aut |
| 700 | 1 | a Lu, Yingchang4 aut |
| 700 | 1 | a Luh, Frank4 aut |
| 700 | 1 | a Ma, Jing4 aut |
| 700 | 1 | a Mancao, Christoph4 aut |
| 700 | 1 | a Manion, Frank J4 aut |
| 700 | 1 | a Markowitz, Sanford D4 aut |
| 700 | 1 | a Martin, Vicente4 aut |
| 700 | 1 | a Matsuda, Koichi4 aut |
| 700 | 1 | a Matsuo, Keitaro4 aut |
| 700 | 1 | a McDonnell, Kevin J4 aut |
| 700 | 1 | a McNeil, Caroline E4 aut |
| 700 | 1 | a Milne, Roger4 aut |
| 700 | 1 | a Molina, Antonio J4 aut |
| 700 | 1 | a Mukherjee, Bhramar4 aut |
| 700 | 1 | a Murphy, Neil4 aut |
| 700 | 1 | a Newcomb, Polly A4 aut |
| 700 | 1 | a Offit, Kenneth4 aut |
| 700 | 1 | a Omichessan, Hanane4 aut |
| 700 | 1 | a Palli, Domenico4 aut |
| 700 | 1 | a Cotoré, Jesus P Paredes4 aut |
| 700 | 1 | a Pérez-Mayoral, Julyann4 aut |
| 700 | 1 | a Pharoah, Paul D4 aut |
| 700 | 1 | a Potter, John D4 aut |
| 700 | 1 | a Qu, Conghui4 aut |
| 700 | 1 | a Raskin, Leon4 aut |
| 700 | 1 | a Rennert, Gad4 aut |
| 700 | 1 | a Rennert, Hedy S4 aut |
| 700 | 1 | a Riggs, Bridget M4 aut |
| 700 | 1 | a Schafmayer, Clemens4 aut |
| 700 | 1 | a Schoen, Robert E4 aut |
| 700 | 1 | a Sellers, Thomas A4 aut |
| 700 | 1 | a Seminara, Daniela4 aut |
| 700 | 1 | a Severi, Gianluca4 aut |
| 700 | 1 | a Shi, Wei4 aut |
| 700 | 1 | a Shibata, David4 aut |
| 700 | 1 | a Shu, Xiao-Ou4 aut |
| 700 | 1 | a Siegel, Erin M4 aut |
| 700 | 1 | a Slattery, Martha L4 aut |
| 700 | 1 | a Southey, Melissa4 aut |
| 700 | 1 | a Stadler, Zsofia K4 aut |
| 700 | 1 | a Stern, Mariana C4 aut |
| 700 | 1 | a Stintzing, Sebastian4 aut |
| 700 | 1 | a Taverna, Darin4 aut |
| 700 | 1 | a Thibodeau, Stephen N4 aut |
| 700 | 1 | a Thomas, Duncan C4 aut |
| 700 | 1 | a Trichopoulou, Antonia4 aut |
| 700 | 1 | a Tsugane, Shoichiro4 aut |
| 700 | 1 | a Ulrich, Cornelia M4 aut |
| 700 | 1 | a van Duijnhoven, Franzel J B4 aut |
| 700 | 1 | a van Guelpen, Bethanyu Umeå universitet,Onkologi4 aut0 (Swepub:umu)beyvan99 |
| 700 | 1 | a Vijai, Joseph4 aut |
| 700 | 1 | a Virtamo, Jarmo4 aut |
| 700 | 1 | a Weinstein, Stephanie J4 aut |
| 700 | 1 | a White, Emily4 aut |
| 700 | 1 | a Win, Aung Ko4 aut |
| 700 | 1 | a Wolk, Alicjau Karolinska Institutet4 aut0 (Swepub:uu)alwol516 |
| 700 | 1 | a Woods, Michael4 aut |
| 700 | 1 | a Wu, Anna H4 aut |
| 700 | 1 | a Wu, Kana4 aut |
| 700 | 1 | a Xiang, Yong-Bing4 aut |
| 700 | 1 | a Yen, Yun4 aut |
| 700 | 1 | a Zanke, Brent W4 aut |
| 700 | 1 | a Zeng, Yi-Xin4 aut |
| 700 | 1 | a Zhang, Ben4 aut |
| 700 | 1 | a Zubair, Niha4 aut |
| 700 | 1 | a Kweon, Sun-Seog4 aut |
| 700 | 1 | a Figueiredo, Jane C4 aut |
| 700 | 1 | a Zheng, Wei4 aut |
| 700 | 1 | a Marchand, Loic Le4 aut |
| 700 | 1 | a Lindblom, Annikau Karolinska Institutet4 aut |
| 700 | 1 | a Moreno, Victor4 aut |
| 700 | 1 | a Peters, Ulrike4 aut |
| 700 | 1 | a Casey, Graham4 aut |
| 700 | 1 | a Hsu, Li4 aut |
| 700 | 1 | a Conti, David V4 aut |
| 700 | 1 | a Gruber, Stephen B4 aut |
| 710 | 2 | a Umeå universitetb Onkologi4 org |
| 773 | 0 | t Journal of the National Cancer Instituted : Oxford University Press (OUP)g 111:2, s. 146-157q 111:2<146-157x 0027-8874x 1460-2105 |
| 856 | 4 | u https://europepmc.org/articles/pmc6555904?pdf=render |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-368168 |
| 856 | 4 8 | u https://doi.org/10.1093/jnci/djy099 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-159635 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:140902537 |
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