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1. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Author

Cheng, Timothy HT, Thompson, Deborah, Painter, Jodie, O'Mara, Tracy, Gorman, Maggie, Martin, Lynn, Palles, Claire, Jones, Angela, Buchanan, Daniel D, Win, Aung Ko, Hopper, John, Jenkins, Mark, Lindor, Noralane M, Newcomb, Polly A, Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Giles, Graham G, Pharoah, Paul, Peto, Julian, Cox, Angela, Swerdlow, Anthony, Couch, Fergus, Cunningham, Julie M, Goode, Ellen L, Winham, Stacey J, Lambrechts, Diether, Fasching, Peter, Burwinkel, Barbara, Brenner, Hermann, Brauch, Hiltrud, Chang-Claude, Jenny, Salvesen, Helga B, Kristensen, Vessela, Darabi, Hatef, Li, Jingmei, Liu, Tao, Lindblom, Annika, Hall, Per, de Polanco, Magdalena Echeverry, Sans, Monica, Carracedo, Angel, Castellvi-Bel, Sergi, Rojas-Martinez, Augusto, Aguiar Jnr, Samuel, Teixeira, Manuel R, Dunning, Alison M, Dennis, Joe, Otton, Geoffrey, Proietto, Tony, Holliday, Elizabeth, Attia, John, Ashton, Katie, Scott, Rodney J, McEvoy, Mark, Dowdy, Sean C, Fridley, Brooke L, Werner, Henrica MJ, Trovik, Jone, Njolstad, Tormund S, Tham, Emma, Mints, Miriam, Runnebaum, Ingo, Hillemanns, Peter, Dörk, Thilo, Amant, Frederic, Schrauwen, Stefanie, Hein, Alexander, Beckmann, Matthias W, Ekici, Arif, Czene, Kamila, Meindl, Alfons, Bolla, Manjeet K, Michailidou, Kyriaki, Tyrer, Jonathan P, Wang, Qin, Ahmed, Shahana, Healey, Catherine S, Shah, Mitul, Annibali, Daniela, Depreeuw, Jeroen, Al-Tassan, Nada A, Harris, Rebecca, Meyer, Brian F, Whiffin, Nicola, Hosking, Fay J, Kinnersley, Ben, Farrington, Susan M, Timofeeva, Maria, Tenesa, Albert, Campbell, Harry, Haile, Robert W, Hodgson, Shirley, Carvajal-Carmona, Luis, Cheadle, Jeremy P, Easton, Douglas, Dunlop, Malcolm, Houlston, Richard, and Spurdle, Amanda

Subjects
Humans, Colorectal Neoplasms, Endometrial Neoplasms, Genetic Predisposition to Disease, Intracellular Signaling Peptides and Proteins, Proteins, Homeodomain Proteins, Neoplasm Proteins, Polymorphism, Genetic, Alleles, Female, Male, Genome-Wide Association Study, Polymorphism, Genetic
Abstract

High-risk mutations in several genes predispose to both colorectal cancer (CRC) and endometrial cancer (EC). We therefore hypothesised that some lower-risk genetic variants might also predispose to both CRC and EC. Using CRC and EC genome-wide association series, totalling 13,265 cancer cases and 40,245 controls, we found that the protective allele [G] at one previously-identified CRC polymorphism, rs2736100 near TERT, was associated with EC risk (odds ratio (OR) = 1.08, P = 0.000167); this polymorphism influences the risk of several other cancers. A further CRC polymorphism near TERC also showed evidence of association with EC (OR = 0.92; P = 0.03). Overall, however, there was no good evidence that the set of CRC polymorphisms was associated with EC risk, and neither of two previously-reported EC polymorphisms was associated with CRC risk. A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk. This polymorphism, a missense variant in the gene SH2B3, is also associated with haematological and autoimmune disorders, suggesting that it influences cancer risk through the immune response. Another polymorphism, rs12970291 near gene TSHZ1, was associated with both CRC and EC (OR = 1.26, P = 4.82 × 10(-8)), with the alleles showing opposite effects on the risks of the two cancers.

Published
2015

2. Two susceptibility loci identified for prostate cancer aggressiveness.

Author

Berndt, Sonja I, Wang, Zhaoming, Yeager, Meredith, Alavanja, Michael C, Albanes, Demetrius, Amundadottir, Laufey, Andriole, Gerald, Beane Freeman, Laura, Campa, Daniele, Cancel-Tassin, Geraldine, Canzian, Federico, Cornu, Jean-Nicolas, Cussenot, Olivier, Diver, W Ryan, Gapstur, Susan M, Grönberg, Henrik, Haiman, Christopher A, Henderson, Brian, Hutchinson, Amy, Hunter, David J, Key, Timothy J, Kolb, Suzanne, Koutros, Stella, Kraft, Peter, Le Marchand, Loic, Lindström, Sara, Machiela, Mitchell J, Ostrander, Elaine A, Riboli, Elio, Schumacher, Fred, Siddiq, Afshan, Stanford, Janet L, Stevens, Victoria L, Travis, Ruth C, Tsilidis, Konstantinos K, Virtamo, Jarmo, Weinstein, Stephanie, Wilkund, Fredrik, Xu, Jianfeng, Lilly Zheng, S, Yu, Kai, Wheeler, William, Zhang, Han, African Ancestry Prostate Cancer GWAS Consortium, Sampson, Joshua, Black, Amanda, Jacobs, Kevin, Hoover, Robert N, Tucker, Margaret, and Chanock, Stephen J

Subjects
African Ancestry Prostate Cancer GWAS Consortium, Humans, Prostatic Neoplasms, Neoplasm Invasiveness, Genetic Predisposition to Disease, Case-Control Studies, Male, Genetic Loci, Neoplasm Grading
Abstract

Most men diagnosed with prostate cancer will experience indolent disease; hence, discovering genetic variants that distinguish aggressive from nonaggressive prostate cancer is of critical clinical importance for disease prevention and treatment. In a multistage, case-only genome-wide association study of 12,518 prostate cancer cases, we identify two loci associated with Gleason score, a pathological measure of disease aggressiveness: rs35148638 at 5q14.3 (RASA1, P=6.49 × 10(-9)) and rs78943174 at 3q26.31 (NAALADL2, P=4.18 × 10(-8)). In a stratified case-control analysis, the SNP at 5q14.3 appears specific for aggressive prostate cancer (P=8.85 × 10(-5)) with no association for nonaggressive prostate cancer compared with controls (P=0.57). The proximity of these loci to genes involved in vascular disease suggests potential biological mechanisms worthy of further investigation.

Published
2015

3. A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study.

Author

Peters, Ulrike, North, Kari E, Sethupathy, Praveen, Buyske, Steve, Haessler, Jeff, Jiao, Shuo, Fesinmeyer, Megan D, Jackson, Rebecca D, Kuller, Lew H, Rajkovic, Aleksandar, Lim, Unhee, Cheng, Iona, Schumacher, Fred, Wilkens, Lynne, Li, Rongling, Monda, Keri, Ehret, Georg, Nguyen, Khanh-Dung H, Cooper, Richard, Lewis, Cora E, Leppert, Mark, Irvin, Marguerite R, Gu, C Charles, Houston, Denise, Buzkova, Petra, Ritchie, Marylyn, Matise, Tara C, Le Marchand, Loic, Hindorff, Lucia A, Crawford, Dana C, Haiman, Christopher A, and Kooperberg, Charles

Subjects
Humans, Obesity, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Proteins, Body Mass Index, Chromosome Mapping, Linkage Disequilibrium, Alleles, Adult, Aged, Aged, 80 and over, Middle Aged, Continental Population Groups, African Americans, European Continental Ancestry Group, Female, Male, Genome-Wide Association Study, Metagenomics, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Adaptor Proteins, Signal Transducing, and over, Genetics, Developmental Biology
Abstract

Genetic variants in intron 1 of the fat mass- and obesity-associated (FTO) gene have been consistently associated with body mass index (BMI) in Europeans. However, follow-up studies in African Americans (AA) have shown no support for some of the most consistently BMI-associated FTO index single nucleotide polymorphisms (SNPs). This is most likely explained by different race-specific linkage disequilibrium (LD) patterns and lower correlation overall in AA, which provides the opportunity to fine-map this region and narrow in on the functional variant. To comprehensively explore the 16q12.2/FTO locus and to search for second independent signals in the broader region, we fine-mapped a 646-kb region, encompassing the large FTO gene and the flanking gene RPGRIP1L by investigating a total of 3,756 variants (1,529 genotyped and 2,227 imputed variants) in 20,488 AAs across five studies. We observed associations between BMI and variants in the known FTO intron 1 locus: the SNP with the most significant p-value, rs56137030 (8.3 × 10(-6)) had not been highlighted in previous studies. While rs56137030was correlated at r(2)>0.5 with 103 SNPs in Europeans (including the GWAS index SNPs), this number was reduced to 28 SNPs in AA. Among rs56137030 and the 28 correlated SNPs, six were located within candidate intronic regulatory elements, including rs1421085, for which we predicted allele-specific binding affinity for the transcription factor CUX1, which has recently been implicated in the regulation of FTO. We did not find strong evidence for a second independent signal in the broader region. In summary, this large fine-mapping study in AA has substantially reduced the number of common alleles that are likely to be functional candidates of the known FTO locus. Importantly our study demonstrated that comprehensive fine-mapping in AA provides a powerful approach to narrow in on the functional candidate(s) underlying the initial GWAS findings in European populations.

Published
2013

4. Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

Author

May-Wilson, Sebastian, Sud, Amit, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Fisher, David, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy P., Tomlinson, Ian P., Dunlop, Malcolm G., and Houlston, Richard S.

Published
2017
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5. Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics

Author

Feng, Yen-Chen Anne, Cho, Kelly, Lindstrom, Sara, Kraft, Peter, Cormack, Jean, Liang, Liming, Driver, Jane A., Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Gruber, Stephen B., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Peters, Ulrike, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Hunter, David J., Lindström, Sara, Kraft, Peter, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Severi, Gianluca, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Kraft, Peter, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Bickeböller, Heike, Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Landi, Maria Teresa, Heinrich, Joachim, Risch, Angela, Wu, Xifeng, Ye, Yuanqing, Christiani, David C., Amos, Christopher I., IGAP Consortium, Colorectal Transdisciplinary Study (CORECT), Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE), Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), and Transdisciplinary Research in Cancer of the Lung (TRICL)

Published
2017
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6. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

Author

Milne, Roger L., Burwinkel, Barbara, Michailidou, Kyriaki, Arias-Perez, Jose-Ignacio, Zamora, M. Pilar, Menéndez-Rodríguez, Primitiva, Hardisson, David, Mendiola, Marta, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Dennis, Joe, Wang, Qin, Bolla, Manjeet K., Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk, Ko, Yon-Dschun, Brauch, Hiltrud, Hamann, Ute, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Li, Jingmei, Brand, Judith S., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Lambrechts, Diether, Peuteman, Gilian, Christiaens, Marie-Rose, Smeets, Ann, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katazyna, Hartman, Mikael, Hui, Miao, Yen Lim, Wei, Wan Chan, Ching, Marme, Federick, Yang, Rongxi, Bugert, Peter, Lindblom, Annika, Margolin, Sara, García-Closas, Montserrat, Chanock, Stephen J., Lissowska, Jolanta, Figueroa, Jonine D., Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Hooning, Maartje J., Kriege, Mieke, van den Ouweland, Ans M.W., Koppert, Linetta B., Fletcher, Olivia, Johnson, Nichola, dos-Santos-Silva, Isabel, Peto, Julian, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha J., Long, Jirong, Chang-Claude, Jenny, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Cox, Angela, Cross, Simon S., Reed, Malcolm W.R., Schmidt, Marjanka K., Broeks, Annegien, Cornelissen, Sten, Braaf, Linde, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K., Noh, Dong-Young, Simard, Jacques, Dumont, Martine, Goldberg, Mark S., Labrèche, France, Fasching, Peter A., Hein, Alexander, Ekici, Arif B., Beckmann, Matthias W., Radice, Paolo, Peterlongo, Paolo, Azzollini, Jacopo, Barile, Monica, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael, Miller, Nicola, Hopper, John L., Schmidt, Daniel F., Makalic, Enes, Southey, Melissa C., Hwang Teo, Soo, Har Yip, Cheng, Sivanandan, Kavitta, Tay, Wan-Ting, Shen, Chen-Yang, Hsiung, Chia-Ni, Yu, Jyh-Cherng, Hou, Ming-Feng, Guénel, Pascal, Truong, Therese, Sanchez, Marie, Mulot, Claire, Blot, William, Cai, Qiuyin, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Wu, Anna H., Tseng, Chiu-Chen, Van Den Berg, David, Stram, Daniel O., Bogdanova, Natalia, Dörk, Thilo, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Zhang, Ben, Couch, Fergus J., Toland, Amanda E., Yannoukakos, Drakoulis, Sangrajrang, Suleeporn, McKay, James, Wang, Xianshu, Olson, Janet E., Vachon, Celine, Purrington, Kristen, Severi, Gianluca, Baglietto, Laura, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Devilee, Peter, Tollenaar, Robert A.E.M., Seynaeve, Caroline, Czene, Kamila, Eriksson, Mikael, Humphreys, Keith, Darabi, Hatef, Ahmed, Shahana, Shah, Mitul, Pharoah, Paul D.P., Hall, Per, Giles, Graham G., Benítez, Javier, Dunning, Alison M., Chenevix-Trench, Georgia, Easton, Douglas F., Berchuck, Andrew, Eeles, Rosalind A., Olama, Ali Amin Al, Kote-Jarai, Zsofia, Benlloch, Sara, Antoniou, Antonis, McGuffog, Lesley, Offit, Ken, Lee, Andrew, Dicks, Ed, Luccarini, Craig, Tessier, Daniel C., Bacot, Francois, Vincent, Daniel, LaBoissière, Sylvie, Robidoux, Frederic, Nielsen, Sune F., Cunningham, Julie M., Windebank, Sharon A., Hilker, Christopher A., Meyer, Jeffrey, Angelakos, Maggie, Maskiell, Judi, Schoot, Ellen van der, Rutgers, Emiel, Verhoef, Senno, Hogervorst, Frans, Boonyawongviroj, Prat, Siriwanarungsan, Pornthep, Schrauder, Michael, Rübner, Matthias, Oeser, Sonja, Landrith, Silke, Williams, Eileen, Ryder-Mills, Elaine, Sargus, Kara, McInerney, Niall, Colleran, Gabrielle, Rowan, Andrew, Jones, Angela, Sohn, Christof, Schneewei, Andeas, Bugert, Peter, Álvarez, Núria, Lacey, James, Wang, Sophia, Ma, Huiyan, Lu, Yani, Deapen, Dennis, Pinder, Rich, Lee, Eunjung, Schumacher, Fred, Horn-Ross, Pam, Reynolds, Peggy, Nelson, David, Ziegler, Hartwig, Wolf, Sonja, Hermann, Volker, Lo, Wing-Yee, Justenhoven, Christina, Baisch, Christian, Fischer, Hans-Peter, Brüning, Thomas, Pesch, Beate, Rabstein, Sylvia, Lotz, Anne, Harth, Volker, Heikkinen, Tuomas, Erkkilä, Irja, Aaltonen, Kirsimari, Smitten, Karl von, Antonenkova, Natalia, Hillemanns, Peter, Christiansen, Hans, Myöhänen, Eija, Kemiläinen, Helena, Thorne, Heather, Niedermayr, Eveline, Bowtell, D, Chenevix-Trench, G, deFazio, A, Gertig, D, Green, A, Webb, P, Green, A., Parsons, P., Hayward, N., Webb, P., Whiteman, D., Fung, Annie, Yashiki, June, Peuteman, Gilian, Smeets, Dominiek, Brussel, Thomas Van, Corthouts, Kathleen, Obi, Nadia, Heinz, Judith, Behrens, Sabine, Eilber, Ursula, Celik, Muhabbet, Olchers, Til, Manoukian, Siranoush, Peissel, Bernard, Scuvera, Giulietta, Zaffaroni, Daniela, Bonanni, Bernardo, Feroce, Irene, Maniscalco, Angela, Rossi, Alessandra, Bernard, Loris, Tranchant, Martine, Valois, Marie-France, Turgeon, Annie, Heguy, Lea, Sze Yee, Phuah, Kang, Peter, Nee, Kang In, Mariapun, Shivaani, Sook-Yee, Yoon, Lee, Daphne, Ching, Teh Yew, Taib, Nur Aishah Mohd, Otsukka, Meeri, Mononen, Kari, Selander, Teresa, Weerasooriya, Nayana, staff, OFBCR, Krol-Warmerdam, E., Molenaar, J., Blom, J., Brinton, Louise, Szeszenia-Dabrowska, Neonila, Peplonska, Beata, Zatonski, Witold, Chao, Pei, Stagner, Michael, Bos, Petra, Blom, Jannet, Crepin, Ellen, Nieuwlaat, Anja, Heemskerk, Annette, Higham, Sue, Cross, Simon, Cramp, Helen, Connley, Dan, Balasubramanian, Sabapathy, Brock, Ian, Luccarini, Craig, Conroy, Don, Baynes, Caroline, and Chua, Kimberley

Published
2014
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7. Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis

Author

Whiffin, Nicola, Hosking, Fay J., Farrington, Susan M., Palles, Claire, Dobbins, Sara E., Zgaga, Lina, Lloyd, Amy, Kinnersley, Ben, Gorman, Maggie, Tenesa, Albert, Broderick, Peter, Wang, Yufei, Barclay, Ella, Hayward, Caroline, Martin, Lynn, Buchanan, Daniel D., Win, Aung Ko, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Liu, Tao, Campbell, Harry, Lindblom, Annika, Houlston, Richard S., Tomlinson, Ian P., and Dunlop, Malcolm G.

Published
2014
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8. A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

Author

Al-Tassan, Nada A., Whiffin, Nicola, Hosking, Fay J., Palles, Claire, Farrington, Susan M., Dobbins, Sara E., Harris, Rebecca, Gorman, Maggie, Tenesa, Albert, Meyer, Brian F., Wakil, Salma M., Kinnersley, Ben, Campbell, Harry, Martin, Lynn, Smith, Christopher G., Idziaszczyk, Shelley, Barclay, Ella, Maughan, Timothy S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Win, Aung Ko, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Dunlop, Malcolm G., Tomlinson, Ian P., Cheadle, Jeremy P., and Houlston, Richard S.

Published
2015
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9. Deciphering the genetic architecture of low-penetrance susceptibility to colorectal cancer

Author

Whiffin, Nicola, Dobbins, Sara E., Hosking, Fay J., Palles, Claire, Tenesa, Albert, Wang, Yufei, Farrington, Susan M., Jones, Angela M., Broderick, Peter, Campbell, Harry, Newcomb, Polly A., Casey, Graham, Conti, David V., Schumacher, Fred, Gallinger, Steve, Lindor, Noralane M., Hopper, John, Jenkins, Mark, Dunlop, Malcolm G., Tomlinson, Ian P., and Houlston, Richard S.

Published
2013
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11. Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP

Author

Cheng, Timothy H. T, Gorman, Maggie, Martin, Lynn, Barclay, Ella, Casey, Graham, Newcomb, Polly A., Conti, David V., Schumacher, Fred, Gallinger, Steve, Lindor, Noralane M., Hopper, John, Jenkins, Mark, Hunter, David J., Kraft, Peter, Jacobs, Kevin B., Cox, David G., Yeager, Meredith, Hankinson, Susan E., Wacholder, Sholom, Wang, Zhaoming, Welch, Robert, Hutchinson, Amy, Wang, Junwen, Yu, Kai, Chatterjee, Nilanjan, Orr, Nick, Willett, Walter C., Colditz, Graham A., Ziegler, Regina G., Berg, Christine D., Buys, Saundra S., Mccarty, Catherine A., Feigelson, Heather Spencer, Calle, Eugenia E., Thun, Michael J., Hayes, Richard B., Tucker, Margaret, Gerhard, Daniela S., Fraumeni, Joseph F., Hoover, Robert N., Thomas, Gilles, Chanock, Stephen J., Ciampa, Julia, Gonzalez Bosquet, Jesus, Berndt, Sonja, Amundadottir, Laufey, Diver, W. Ryan, Albanes, Demetrius, Virtamo, Jarmo, Weinstein, Stephanie, Schumacher, Fredrick R., Cancel Tassin, Geraldine, Cussenot, Olivier, Valeri, Antoine, Andriole, Gerald L., Crawford, E. David, Haiman, Christopher A., Henderson, Brian, Kolonel, Laurence, Marchand, Loic Le, Siddiq, Afshan, Riboli, Elio, Key, Timothy J., Kaaks, Rudolf, Isaacs, William, Isaacs, Sarah, Wiley, Kathleen E., Gronberg, Henrik, Wiklund, Fredrik, Stattin, Pär, Xu, Jianfeng, Zheng, S. Lilly, Sun, Jielin, Vatten, Lars J., Hveem, Kristian, Kumle, Merethe, Purdue, Mark P., Johansson, Mattias, Zelenika, Diana, Toro, Jorge R., Scelo, Ghislaine, Moore, Lee E., Prokhortchouk, Egor, Wu, Xifeng, Kiemeney, Lambertus A., Gaborieau, Valerie, Chow, Wong Ho, Zaridze, David, Matveev, Vsevolod, Lubinski, Jan, Trubicka, Joanna, Szeszenia Dabrowska, Neonila, Lissowska, Jolanta, Rudnai, Péter, Fabianova, Eleonora, Bucur, Alexandru, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Boffetta, Paolo, Colt, Joanne S., Davis, Faith G., Schwartz, Kendra L., Banks, Rosamonde E., Selby, Peter J., Harnden, Patricia, Hsing, Ann W., Grubb, Robert L., Boeing, Heiner, Vineis, Paolo, Clavel Chapelon, Franc¸oise, Palli, Domenico, Tumino, Rosario, Krogh, Vittorio, Duell, Eric J., Quirós, José Ramón, Sanchez, Maria José, Navarro, Carmen, Ardanaz, Eva, Dorronsoro, Miren, Khaw, Kay Tee, Allen, Naomi E., Bueno de Mesquita, H. Bas, Peeters, Petra H. M., Trichopoulos, Dimitrios, Linseisen, Jakob, Ljungberg, Börje, Overvad, Kim, Tjønneland, Anne, Romieu, Isabelle, Mukeria, Anush, Shangina, Oxana, Stevens, Victoria L., Gapstur, Susan M., Pharoah, Paul D., Easton, Douglas F., Weinstein, Stephanie J., Njølstad, Inger, Tell, Grethe S., Stoltenberg, Camilla, Kumar, Rajiv, Koppova, Kvetoslava, Benhamou, Simone, Oosterwijk, Egbert, Vermeulen, Sita H., Aben, Katja K. H., Van Der Marel, Saskia L., Ye, Yuanqing, Wood, Christopher G., Pu, Xia, Mazur, Alexander M., Boulygina, Eugenia S., Chekanov, Nikolai N., Foglio, Mario, Lechner, Doris, Gut, Ivo, Heath, Simon, Blanche, Hélène, Skryabin, Konstantin G., Mckay, James D., Rothman, Nathaniel, Lathrop, Mark, Brennan, Paul, Saunders, Brian, Thomas, Huw, Clark, Sue, Tomlinson, Ian, PANICO, SALVATORE, Cheng, Timothy H. T, Gorman, Maggie, Martin, Lynn, Barclay, Ella, Casey, Graham, Newcomb, Polly A., Conti, David V., Schumacher, Fred, Gallinger, Steve, Lindor, Noralane M., Hopper, John, Jenkins, Mark, Hunter, David J., Kraft, Peter, Jacobs, Kevin B., Cox, David G., Yeager, Meredith, Hankinson, Susan E., Wacholder, Sholom, Wang, Zhaoming, Welch, Robert, Hutchinson, Amy, Wang, Junwen, Yu, Kai, Chatterjee, Nilanjan, Orr, Nick, Willett, Walter C., Colditz, Graham A., Ziegler, Regina G., Berg, Christine D., Buys, Saundra S., Mccarty, Catherine A., Feigelson, Heather Spencer, Calle, Eugenia E., Thun, Michael J., Hayes, Richard B., Tucker, Margaret, Gerhard, Daniela S., Fraumeni, Joseph F., Hoover, Robert N., Thomas, Gille, Chanock, Stephen J., Ciampa, Julia, Gonzalez Bosquet, Jesu, Berndt, Sonja, Amundadottir, Laufey, Diver, W. Ryan, Albanes, Demetriu, Virtamo, Jarmo, Weinstein, Stephanie, Schumacher, Fredrick R., Cancel Tassin, Geraldine, Cussenot, Olivier, Valeri, Antoine, Andriole, Gerald L., Crawford, E. David, Haiman, Christopher A., Henderson, Brian, Kolonel, Laurence, Marchand, Loic Le, Siddiq, Afshan, Riboli, Elio, Key, Timothy J., Kaaks, Rudolf, Isaacs, William, Isaacs, Sarah, Wiley, Kathleen E., Gronberg, Henrik, Wiklund, Fredrik, Stattin, Pär, Xu, Jianfeng, Zheng, S. Lilly, Sun, Jielin, Vatten, Lars J., Hveem, Kristian, Kumle, Merethe, Purdue, Mark P., Johansson, Mattia, Zelenika, Diana, Toro, Jorge R., Scelo, Ghislaine, Moore, Lee E., Prokhortchouk, Egor, Wu, Xifeng, Kiemeney, Lambertus A., Gaborieau, Valerie, Chow, Wong Ho, Zaridze, David, Matveev, Vsevolod, Lubinski, Jan, Trubicka, Joanna, Szeszenia Dabrowska, Neonila, Lissowska, Jolanta, Rudnai, Péter, Fabianova, Eleonora, Bucur, Alexandru, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Boffetta, Paolo, Colt, Joanne S., Davis, Faith G., Schwartz, Kendra L., Banks, Rosamonde E., Selby, Peter J., Harnden, Patricia, Hsing, Ann W., Grubb, Robert L., Boeing, Heiner, Vineis, Paolo, Clavel Chapelon, Franc¸oise, Palli, Domenico, Tumino, Rosario, Krogh, Vittorio, Panico, Salvatore, Duell, Eric J., Quirós, José Ramón, Sanchez, Maria José, Navarro, Carmen, Ardanaz, Eva, Dorronsoro, Miren, Khaw, Kay Tee, Allen, Naomi E., Bueno de Mesquita, H. Ba, Peeters, Petra H. M., Trichopoulos, Dimitrio, Linseisen, Jakob, Ljungberg, Börje, Overvad, Kim, Tjønneland, Anne, Romieu, Isabelle, Mukeria, Anush, Shangina, Oxana, Stevens, Victoria L., Gapstur, Susan M., Pharoah, Paul D., Easton, Douglas F., Weinstein, Stephanie J., Njølstad, Inger, Tell, Grethe S., Stoltenberg, Camilla, Kumar, Rajiv, Koppova, Kvetoslava, Benhamou, Simone, Oosterwijk, Egbert, Vermeulen, Sita H., Aben, Katja K. H., Van Der Marel, Saskia L., Ye, Yuanqing, Wood, Christopher G., Pu, Xia, Mazur, Alexander M., Boulygina, Eugenia S., Chekanov, Nikolai N., Foglio, Mario, Lechner, Dori, Gut, Ivo, Heath, Simon, Blanche, Hélène, Skryabin, Konstantin G., Mckay, James D., Rothman, Nathaniel, Lathrop, Mark, Brennan, Paul, Saunders, Brian, Thomas, Huw, Clark, Sue, and Tomlinson, Ian

Subjects
Adenoma, Allele, Male, Genes, Modifier, Adenomatous Polyposis Coli Protein, Colorectal Neoplasm, Middle Aged, Polymorphism, Single Nucleotide, Phenotype, Adenomatous Polyposis Coli, Genetics, Female, Genetic Predisposition to Disease, DNA Glycosylase, Germ-Line Mutation, Genetics (clinical), Aged, Human
Abstract

The presence of multiple (5-100) colorectal adenomas suggests an inherited predisposition, but the genetic aetiology of this phenotype is undetermined if patients test negative for Mendelian polyposis syndromes such as familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP). We investigated whether 18 common colorectal cancer (CRC) predisposition single-nucleotide polymorphisms (SNPs) could help to explain some cases with multiple adenomas who phenocopied FAP or MAP, but had no pathogenic APC or MUTYH variant. No multiple adenoma case had an outlying number of CRC SNP risk alleles, but multiple adenoma patients did have a significantly higher number of risk alleles than population controls (P=5.7 × 10(-7)). The association was stronger in those with ≥10 adenomas. The CRC SNPs accounted for 4.3% of the variation in multiple adenoma risk, with three SNPs (rs6983267, rs10795668, rs3802842) explaining 3.0% of the variation. In FAP patients, the CRC risk score did not differ significantly from the controls, as we expected given the overwhelming effect of pathogenic germline APC variants on the phenotype of these cases. More unexpectedly, we found no evidence that the CRC SNPs act as modifier genes for the number of colorectal adenomas in FAP patients. In conclusion, common colorectal tumour risk alleles contribute to the development of multiple adenomas in patients without pathogenic germline APC or MUTYH variants. This phenotype may have 'polygenic' or monogenic origins. The risk of CRC in relatives of multiple adenoma cases is probably much lower for cases with polygenic disease, and this should be taken into account when counselling such patients.

Published
2015

12. Association between Adult Height and Risk of Colorectal, Lung, and Prostate Cancer:Results from Meta-analyses of Prospective Studies and Mendelian Randomization Analyses

Author

Khankari, Nikhil K., Shu, Xiao Ou, Wen, Wanqing, Kraft, Peter, Lindström, Sara, Peters, Ulrike, Schildkraut, Joellen, Schumacher, Fredrick, Bofetta, Paolo, Risch, Angela, Bickeböller, Heike, Amos, Christopher I., Easton, Douglas, Eeles, Rosalind A., Gruber, Stephen B., Haiman, Christopher A., Hunter, David J., Chanock, Stephen J., Pierce, Brandon L., Zheng, Wei, Blalock, Kendra, Campbell, Peter T., Casey, Graham, Conti, David V., Edlund, Christopher K., Figueiredo, Jane, James Gauderman, W., Gong, Jian, Green, Roger C., Harju, John F., Harrison, Tabitha A., Jacobs, Eric J., Jenkins, Mark A., Jiao, Shuo, Li, Li, Lin, Yi, Manion, Frank J., Moreno, Victor, Mukherjee, Bhramar, Raskin, Leon, Schumacher, Fredrick R., Seminara, Daniela, Severi, Gianluca, Stenzel, Stephanie L., Thomas, Duncan C., Hopper, John L., Southey, Melissa C., Makalic, Enes, Schmidt, Daniel F., Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos Santos Silva, Isabel, Ahsan, Habib, Whittemore, Alice, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel, van der Luijt, Rob B., Uitterlinden, Andre G., Hofman, Albert, Meindl, Alfons, Schmutzler, Rita K., Müller-Myhsok, Bertram, Lichtner, Peter, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Hein, Rebecca, Dahmen, Norbert, Beckman, Lars, Crisponi, Laura, Hall, Per, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Easton, Douglas F., Turnbull, Clare, Rahman, Nazneen, Eeles, Rosalind, Kote-Jarai, Zsofia, Muir, Kenneth, Giles, Graham, Neal, David, Donovan, Jenny L., Hamdy, Freddie C., Wiklund, Fredrik, Gronberg, Henrik, Haiman, Christopher, Schumacher, Fred, Travis, Ruth, Riboli, Elio, Hunter, David, Gapstur, Susan, Berndt, Sonja, Chanock, Stephen, Han, Younghun, Su, Li, Wei, Yongyue, Hung, Rayjean J., Brhane, Yonathan, McLaughlin, John, Brennan, Paul, McKay, James D., Rosenberger, Albert, Houlston, Richard S., Caporaso, Neil, Teresa Landi, Maria, Heinrich, Joachim, Wu, Xifeng, Ye, Yuanqing, Christiani, David C., Human genetics, CCA - Evaluation of Cancer Care, Eeles, Rosalind A [0000-0002-7472-5384], and Apollo - University of Cambridge Repository

Subjects
Oncology, Male, Lung Neoplasms, Social Sciences, Genome-wide association study, Biochemistry, 0302 clinical medicine, Sociology, Odds Ratio, Prospective Studies, Aged, 80 and over, Prostate Diseases, 11 Medical And Health Sciences, General Medicine, Genomics, 3. Good health, 030220 oncology & carcinogenesis, Meta-analysis, Physical Sciences, Transdisciplinary Research in Cancer of the Lung (TRICL), Medicine, DIFFERENT ANATOMIC SITES, BODY-MASS-INDEX, Statistics (Mathematics), medicine.medical_specialty, 03 medical and health sciences, Exocrine Glands, SDG 3 - Good Health and Well-being, Genome-Wide Association Studies, Genetics, Humans, Statistical Methods, Molecular Biology, RECTAL-CANCER, Aged, Science & Technology, Biology and Life Sciences, Computational Biology, Genetic Variation, Odds ratio, Mendelian Randomization Analysis, medicine.disease, Genitourinary Tract Tumors, 030104 developmental biology, Relative risk, OLDER WOMEN, Prostate Gland, Mathematics, Meta-Analysis, Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE), 0301 basic medicine, Bioinformatics, Lung and Intrathoracic Tumors, Mathematical and Statistical Techniques, NETHERLANDS COHORT, Consortia, Risk Factors, GROWTH-FACTOR (IGF)-I, Medicine and Health Sciences, Prospective cohort study, Prostate Cancer, Middle Aged, Research Design, Female, Anatomy, Colorectal Neoplasms, Life Sciences & Biomedicine, NORWEGIAN MEN, Research Article, Biotechnology, Adult, Urology, IGF-BINDING PROTEINS, Research and Analysis Methods, Young Adult, Medicine, General & Internal, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE), General & Internal Medicine, Internal medicine, Mendelian randomization, medicine, Journal Article, Colorectal Transdisciplinary Study (CORECT), Lung cancer, Colorectal Cancer, business.industry, Cancers and Neoplasms, Prostatic Neoplasms, JAPANESE MEN, Human Genetics, Cell Biology, Genome Analysis, Body Height, Prostate cancer, Lung and intrathoracic tumors, Prospective studies, Colorectal cancer, Prostate gland, Genome-wide association studies, FOLLOW-UP, business, Genome-Wide Association Study
Abstract

Background Observational studies examining associations between adult height and risk of colorectal, prostate, and lung cancers have generated mixed results. We conducted meta-analyses using data from prospective cohort studies and further carried out Mendelian randomization analyses, using height-associated genetic variants identified in a genome-wide association study (GWAS), to evaluate the association of adult height with these cancers. Methods and Findings A systematic review of prospective studies was conducted using the PubMed, Embase, and Web of Science databases. Using meta-analyses, results obtained from 62 studies were summarized for the association of a 10-cm increase in height with cancer risk. Mendelian randomization analyses were conducted using summary statistics obtained for 423 genetic variants identified from a recent GWAS of adult height and from a cancer genetics consortium study of multiple cancers that included 47,800 cases and 81,353 controls. For a 10-cm increase in height, the summary relative risks derived from the meta-analyses of prospective studies were 1.12 (95% CI 1.10, 1.15), 1.07 (95% CI 1.05, 1.10), and 1.06 (95% CI 1.02, 1.11) for colorectal, prostate, and lung cancers, respectively. Mendelian randomization analyses showed increased risks of colorectal (odds ratio [OR] = 1.58, 95% CI 1.14, 2.18) and lung cancer (OR = 1.10, 95% CI 1.00, 1.22) associated with each 10-cm increase in genetically predicted height. No association was observed for prostate cancer (OR = 1.03, 95% CI 0.92, 1.15). Our meta-analysis was limited to published studies. The sample size for the Mendelian randomization analysis of colorectal cancer was relatively small, thus affecting the precision of the point estimate. Conclusions Our study provides evidence for a potential causal association of adult height with the risk of colorectal and lung cancers and suggests that certain genetic factors and biological pathways affecting adult height may also affect the risk of these cancers., In a Mendelian randomisation study Pierce and colleagues show a genetic association between adult height and increased risk of colorectal and lung cancer., Author Summary Why Was This Study Done? Several previous observational studies have examined the association between adult height and risk of cancers of the lung, colon/rectum, and prostate; however, it remains unclear whether adult height is indeed related to the risk of these cancers. What Did the Researchers Do and Find? We conducted a systematic review and meta-analysis of prospective cohort studies that examined the association between adult height and the risk of colorectal, lung, and prostate cancers. To overcome inherent limitations of observational study designs, we conducted Mendelian randomization analyses using genetic data generated from a large multi-center consortium study including 47,800 cases and 81,353 controls. In the meta-analysis of the prospective observational studies, we found a 12% increased risk of colorectal cancer, a 7% increased risk of prostate cancer, and a 6% increased risk of lung cancer for every ten-centimeter increase in height, and this increased risk was corroborated in the Mendelian randomization analyses for colorectal (58%) and lung cancer (10%). What Do These Findings Mean? Our study provides strong evidence for an association between adult height and risk of colorectal and lung cancer, and suggests that certain genetic and biological factors that affect height may also affect the risk of these cancers. However, our meta-analysis was limited to published studies, and the sample size for the Mendelian randomization analysis for colorectal cancer was relatively small, affecting the precision of the risk estimate.

Published
2016

14. Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

Author

Rodriguez‐Broadbent, Henry, primary, Law, Philip J., additional, Sud, Amit, additional, Palin, Kimmo, additional, Tuupanen, Sari, additional, Gylfe, Alexandra, additional, Hänninen, Ulrika A., additional, Cajuso, Tatiana, additional, Tanskanen, Tomas, additional, Kondelin, Johanna, additional, Kaasinen, Eevi, additional, Sarin, Antti‐Pekka, additional, Ripatti, Samuli, additional, Eriksson, Johan G., additional, Rissanen, Harri, additional, Knekt, Paul, additional, Pukkala, Eero, additional, Jousilahti, Pekka, additional, Salomaa, Veikko, additional, Palotie, Aarno, additional, Renkonen‐Sinisalo, Laura, additional, Lepistö, Anna, additional, Böhm, Jan, additional, Mecklin, Jukka‐Pekka, additional, Al‐Tassan, Nada A., additional, Palles, Claire, additional, Martin, Lynn, additional, Barclay, Ella, additional, Farrington, Susan M., additional, Timofeeva, Maria N., additional, Meyer, Brian F., additional, Wakil, Salma M., additional, Campbell, Harry, additional, Smith, Christopher G., additional, Idziaszczyk, Shelley, additional, Maughan, Timothy S., additional, Kaplan, Richard, additional, Kerr, Rachel, additional, Kerr, David, additional, Passarelli, Michael N., additional, Figueiredo, Jane C., additional, Buchanan, Daniel D., additional, Win, Aung K., additional, Hopper, John L., additional, Jenkins, Mark A., additional, Lindor, Noralane M., additional, Newcomb, Polly A., additional, Gallinger, Steven, additional, Conti, David, additional, Schumacher, Fred, additional, Casey, Graham, additional, Aaltonen, Lauri A., additional, Cheadle, Jeremy P., additional, Tomlinson, Ian P., additional, Dunlop, Malcolm G., additional, and Houlston, Richard S., additional

Published
2017
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15. Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

Author

Jarvis, David, primary, Mitchell, Jonathan S, additional, Law, Philip J, additional, Palin, Kimmo, additional, Tuupanen, Sari, additional, Gylfe, Alexandra, additional, Hänninen, Ulrika A, additional, Cajuso, Tatiana, additional, Tanskanen, Tomas, additional, Kondelin, Johanna, additional, Kaasinen, Eevi, additional, Sarin, Antti-Pekka, additional, Kaprio, Jaakko, additional, Eriksson, Johan G, additional, Rissanen, Harri, additional, Knekt, Paul, additional, Pukkala, Eero, additional, Jousilahti, Pekka, additional, Salomaa, Veikko, additional, Ripatti, Samuli, additional, Palotie, Aarno, additional, Järvinen, Heikki, additional, Renkonen-Sinisalo, Laura, additional, Lepistö, Anna, additional, Böhm, Jan, additional, Meklin, Jukka-Pekka, additional, Al-Tassan, Nada A, additional, Palles, Claire, additional, Martin, Lynn, additional, Barclay, Ella, additional, Farrington, Susan M, additional, Timofeeva, Maria N, additional, Meyer, Brian F, additional, Wakil, Salma M, additional, Campbell, Harry, additional, Smith, Christopher G, additional, Idziaszczyk, Shelley, additional, Maughan, Timothy S, additional, Kaplan, Richard, additional, Kerr, Rachel, additional, Kerr, David, additional, Buchanan, Daniel D, additional, Win, Aung K, additional, Hopper, John L, additional, Jenkins, Mark A, additional, Lindor, Noralane M, additional, Newcomb, Polly A, additional, Gallinger, Steve, additional, Conti, David, additional, Schumacher, Fred, additional, Casey, Graham, additional, Taipale, Jussi, additional, Aaltonen, Lauri A, additional, Cheadle, Jeremy P, additional, Dunlop, Malcolm G, additional, Tomlinson, Ian P, additional, and Houlston, Richard S, additional

Published
2016
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16. Variation at 2q35 (PNKDandTMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

Author

Orlando, Giulia, primary, Law, Philip J., additional, Palin, Kimmo, additional, Tuupanen, Sari, additional, Gylfe, Alexandra, additional, Hänninen, Ulrika A., additional, Cajuso, Tatiana, additional, Tanskanen, Tomas, additional, Kondelin, Johanna, additional, Kaasinen, Eevi, additional, Sarin, Antti-Pekka, additional, Kaprio, Jaakko, additional, Eriksson, Johan G., additional, Rissanen, Harri, additional, Knekt, Paul, additional, Pukkala, Eero, additional, Jousilahti, Pekka, additional, Salomaa, Veikko, additional, Ripatti, Samuli, additional, Palotie, Aarno, additional, Järvinen, Heikki, additional, Renkonen-Sinisalo, Laura, additional, Lepistö, Anna, additional, Böhm, Jan, additional, Mecklin, Jukka-Pekka, additional, Al-Tassan, Nada A., additional, Palles, Claire, additional, Martin, Lynn, additional, Barclay, Ella, additional, Tenesa, Albert, additional, Farrington, Susan, additional, Timofeeva, Maria N., additional, Meyer, Brian F., additional, Wakil, Salma M., additional, Campbell, Harry, additional, Smith, Christopher G., additional, Idziaszczyk, Shelley, additional, Maughan, Timothy S., additional, Kaplan, Richard, additional, Kerr, Rachel, additional, Kerr, David, additional, Buchanan, Daniel D., additional, Ko Win, Aung, additional, Hopper, John, additional, Jenkins, Mark, additional, Lindor, Noralane M., additional, Newcomb, Polly A., additional, Gallinger, Steve, additional, Conti, David, additional, Schumacher, Fred, additional, Casey, Graham, additional, Taipale, Jussi, additional, Cheadle, Jeremy P., additional, Dunlop, Malcolm G., additional, Tomlinson, Ian P., additional, Aaltonen, Lauri A., additional, and Houlston, Richard S., additional

Published
2016
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17. Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained

Author

Eaton, Charles B., Wu, Ying, Stančáková, Alena, Sheu, Wayne H-H., Buyske, Steven, Dumitrescu, Logan, Cheng, Iona, Guo, Xiuqing, Lee, Wen-Jane, Carty, Cara L., Franceschini, Nora, Boerwinkle, Eric, Narisu, Narisu, Robinson, Jennifer G., Henderson, Brian E., Le Marchand, Loic, Hindorff, Lucia A., Lingaas-Holmen, Oddgeir, Komulainen, Pirjo, Lindström, Jaana, Schumacher, Fred, Kim, Eric, Cochran, Barbara, Kinnunen, Leena, Jackson, Anne U., Absher, Devin, Mitchell, Sabrina L., Waite, Lindsay L., Arnett, Donna K., Bonnycastle, Lori L., Croteau-Chonka, Damien C., and Lin, Yi

Abstract

Genome-wide association studies (GWAS) have identified ∼100 loci associated with blood lipid levels, but much of the trait heritability remains unexplained, and at most loci the identities of the trait-influencing variants remain unknown. We conducted a trans-ethnic fine-mapping study at 18, 22, and 18 GWAS loci on the Metabochip for their association with triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C), respectively, in individuals of African American (n = 6,832), East Asian (n = 9,449), and European (n = 10,829) ancestry. We aimed to identify the variants with strongest association at each locus, identify additional and population-specific signals, refine association signals, and assess the relative significance of previously described functional variants. Among the 58 loci, 33 exhibited evidence of association at P

Published
2013
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18. Erratum: A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer

Author

Al-Tassan, Nada A., primary, Whiffin, Nicola, additional, Hosking, Fay J., additional, Palles, Claire, additional, Farrington, Susan M., additional, Dobbins, Sara E., additional, Harris, Rebecca, additional, Gorman, Maggie, additional, Tenesa, Albert, additional, Meyer, Brian F., additional, Wakil, Salma M., additional, Kinnersley, Ben, additional, Campbell, Harry, additional, Martin, Lynn, additional, Smith, Christopher G., additional, Idziaszczyk, Shelley, additional, Barclay, Ella, additional, Maughan, Timothy S., additional, Kaplan, Richard, additional, Kerr, Rachel, additional, Kerr, David, additional, Buchanan, Daniel D., additional, Win, Aung Ko, additional, Hopper, John, additional, Jenkins, Mark, additional, Lindor, Noralane M., additional, Newcomb, Polly A., additional, Gallinger, Steve, additional, Conti, David, additional, Schumacher, Fred, additional, Casey, Graham, additional, Dunlop, Malcolm G., additional, Tomlinson, Ian P., additional, Cheadle, Jeremy P., additional, and Houlston, Richard S., additional

Published
2015
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20. Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained

Author

Wu, Ying, primary, Waite, Lindsay L., additional, Jackson, Anne U., additional, Sheu, Wayne H-H., additional, Buyske, Steven, additional, Absher, Devin, additional, Arnett, Donna K., additional, Boerwinkle, Eric, additional, Bonnycastle, Lori L., additional, Carty, Cara L., additional, Cheng, Iona, additional, Cochran, Barbara, additional, Croteau-Chonka, Damien C., additional, Dumitrescu, Logan, additional, Eaton, Charles B., additional, Franceschini, Nora, additional, Guo, Xiuqing, additional, Henderson, Brian E., additional, Hindorff, Lucia A., additional, Kim, Eric, additional, Kinnunen, Leena, additional, Komulainen, Pirjo, additional, Lee, Wen-Jane, additional, Le Marchand, Loic, additional, Lin, Yi, additional, Lindström, Jaana, additional, Lingaas-Holmen, Oddgeir, additional, Mitchell, Sabrina L., additional, Narisu, Narisu, additional, Robinson, Jennifer G., additional, Schumacher, Fred, additional, Stančáková, Alena, additional, Sundvall, Jouko, additional, Sung, Yun-Ju, additional, Swift, Amy J., additional, Wang, Wen-Chang, additional, Wilkens, Lynne, additional, Wilsgaard, Tom, additional, Young, Alicia M., additional, Adair, Linda S., additional, Ballantyne, Christie M., additional, Bůžková, Petra, additional, Chakravarti, Aravinda, additional, Collins, Francis S., additional, Duggan, David, additional, Feranil, Alan B., additional, Ho, Low-Tone, additional, Hung, Yi-Jen, additional, Hunt, Steven C., additional, Hveem, Kristian, additional, Juang, Jyh-Ming J., additional, Kesäniemi, Antero Y., additional, Kuusisto, Johanna, additional, Laakso, Markku, additional, Lakka, Timo A., additional, Lee, I-Te, additional, Leppert, Mark F., additional, Matise, Tara C., additional, Moilanen, Leena, additional, Njølstad, Inger, additional, Peters, Ulrike, additional, Quertermous, Thomas, additional, Rauramaa, Rainer, additional, Rotter, Jerome I., additional, Saramies, Jouko, additional, Tuomilehto, Jaakko, additional, Uusitupa, Matti, additional, Wang, Tzung-Dau, additional, Boehnke, Michael, additional, Haiman, Christopher A., additional, Chen, Yii-Der I., additional, Kooperberg, Charles, additional, Assimes, Themistocles L., additional, Crawford, Dana C., additional, Hsiung, Chao A., additional, North, Kari E., additional, and Mohlke, Karen L., additional

Published
2013
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21. Genome-Wide Search for Gene-Gene Interactions in Colorectal Cancer

Author

Jiao, Shuo, primary, Hsu, Li, additional, Berndt, Sonja, additional, Bézieau, Stéphane, additional, Brenner, Hermann, additional, Buchanan, Daniel, additional, Caan, Bette J., additional, Campbell, Peter T., additional, Carlson, Christopher S., additional, Casey, Graham, additional, Chan, Andrew T., additional, Chang-Claude, Jenny, additional, Chanock, Stephen, additional, Conti, David V., additional, Curtis, Keith R., additional, Duggan, David, additional, Gallinger, Steven, additional, Gruber, Stephen B., additional, Harrison, Tabitha A., additional, Hayes, Richard B., additional, Henderson, Brian E., additional, Hoffmeister, Michael, additional, Hopper, John L., additional, Hudson, Thomas J., additional, Hutter, Carolyn M., additional, Jackson, Rebecca D., additional, Jenkins, Mark A., additional, Kantor, Elizabeth D., additional, Kolonel, Laurence N., additional, Küry, Sébastien, additional, Le Marchand, Loic, additional, Lemire, Mathieu, additional, Newcomb, Polly A., additional, Potter, John D., additional, Qu, Conghui, additional, Rosse, Stephanie A., additional, Schoen, Robert E., additional, Schumacher, Fred R., additional, Seminara, Daniela, additional, Slattery, Martha L., additional, Ulrich, Cornelia M., additional, Zanke, Brent W., additional, and Peters, Ulrike, additional

Published
2012
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22. Abstract 051: Trans-ethnic Metabochip Genotyping of Established Lipid Loci Identifies Low Frequency Susceptibility Variants and Additional Independent Signals in Known Loci

Author

Wu, Ying, primary, Buyske, Steven, additional, Assimes, Themistocles, additional, Adair, Linda S, additional, Ballantyne, Christie, additional, Carty, Cara L, additional, Cheng, Iona, additional, Duggan, David, additional, Dumitrescu, Logan, additional, Eaton, Charles B, additional, Feranil, Alan B, additional, Hindorff, Lucia A, additional, Matise, Tara, additional, Mitchell, Sabrina, additional, Lin, Yi, additional, Peters, Ulrike, additional, Robinson, Jennifer G, additional, Schumacher, Fred, additional, Young, Alicia, additional, Kooperberg, Charles, additional, Crawford, Dana, additional, Mohlke, Karen L, additional, and North, Kari E, additional

Published
2012
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23. A Meta-Analysis of Nodular Sclerosis Hodgkin Lymphoma Identifies Risk Loci at 6p21.32

Author

Cozen, Wendy, primary, Li, Dalin, additional, Best, Timothy, additional, Berg, David J. Van Den, additional, Skol, Andrew, additional, Cortessis, Victoria K., additional, Mack, Thomas M, additional, Glaser, Sally L., additional, Schumacher, Fred, additional, Weiss, Lawrence, additional, Nathwani, Bharat N., additional, Hwang, Amie, additional, Bhatia, Smita, additional, Strong, Louise C, additional, Robison, Leslie L., additional, V Conti, David, additional, and Onel, Kenan, additional

Published
2010
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24. Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

Author

Orlando, Giulia, Law, Philip J., Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti-Pekka, Kaprio, Jaakko, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Ripatti, Samuli, Palotie, Aarno, Järvinen, Heikki, Renkonen-Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka-Pekka, Al-Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Tenesa, Albert, Farrington, Susan, Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Buchanan, Daniel D., Ko Win, Aung, Hopper, John, Jenkins, Mark, Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Taipale, Jussi, Cheadle, Jeremy P., Dunlop, Malcolm G., Tomlinson, Ian P., Aaltonen, Lauri A., and Houlston, Richard S.

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.

Published
2016
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25. Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study.

Author

Taylor, Kira C., Carty, Cara L., Dumitrescu, Logan, Bůžková, Petra, Cole, Shelley A., Hindorff, Lucia, Schumacher, Fred R., Wilkens, Lynne R., Shohet, Ralph V., Miguel Quibrera, P., Johnson, Karen C., Henderson, Brian E., Haessler, Jeff, Franceschini, Nora, Eaton, Charles B., Duggan, David J., Cochran, Barbara, Cheng, Iona, Carlson, Chris S., and Brown-Gentry, Kristin

Subjects
TRIGLYCERIDES, HUMAN genetic variation, EPIDEMIOLOGICAL research, GENOMICS, HETEROGENEITY, EUROPEAN Americans
Abstract

Background: High-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglyceride (TG) levels are influenced by both genes and the environment. Genome-wide association studies (GWAS) have identified ∼100 common genetic variants associated with HDL-C, LDL-C, and/or TG levels, mostly in populations of European descent, but little is known about the modifiers of these associations. Here, we investigated whether GWAS-identified SNPs for lipid traits e×hibited heterogeneity by se× in the Population Architecture using Genomics and Epidemiology (PAGE) study. Results: A se×-stratified meta-analysis was performed for 49 GWAS-identified SNPs for fasting HDL-C, LDL-C, and ln (TG) levels among adults self-identified as European American (25,013). Heterogeneity by se× was established when phet < 0.001. There was evidence for heterogeneity by se× for two SNPs for ln(TG) in the APOA1/C3/A4/A5/BUD13 gene cluster: rs28927680 (phet = 7.4×10-7) and rs3135506 (phet = 4.3×10-4), one SNP in PLTP for HDL levels (rs7679; phet = 9.9×10-4), and one in HMGCR for LDL levels (rs12654264; phet = 3.1×10-5). We replicated heterogeneity by se× in five of seventeen loci previously reported by genome-wide studies (binomial p = 0.0009). We also present results for other racial/ethnic groups in the supplementary materials, to provide a resource for future meta-analyses. Conclusions: We provide further evidence for se×-specific effects of SNPs in the APOA1/C3/A4/A5/BUD13 gene cluster, PLTP, and HMGCR on fasting triglyceride levels in European Americans from the PAGE study. Our findings emphasize the need for considering conte×t-specific effects when interpreting genetic associations emerging from GWAS, and also highlight the difficulties in replicating interaction effects across studies and across racial/ethnic groups. [ABSTRACT FROM AUTHOR]

Published
2013
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26. Building food-processing machinery since 1862. (Packaging & Materials Handling)

Author

Schumacher, Fred

Subjects
Hermann Rothenburg Apparatebau GmbH -- Product information, Food processing machinery industry -- Product information, Business, Business, international, Food and beverage industries
Abstract

They are in use in many countries world-wide--the food processing machinery of Hermann Rothenburg Apparatebau GmbH. Few of the German and International clients of this long established company know that [...]

Published
2002

27. Two Susceptibility Loci Identified for Prostate Cancer Aggressiveness

Author

Berndt, Sonja I., Wang, Zhaoming, Yeager, Meredith, Alavanja, Michael C., Albanes, Demetrius, Amundadottir, Laufey, Andriole, Gerald, Freeman, Laura Beane, Campa, Daniele, Cancel-Tassin, Geraldine, Canzian, Federico, Cornu, Jean-Nicolas, Cussenot, Olivier, Diver, W. Ryan, Gapstur, Susan M., Grönberg, Henrik, Haiman, Christopher A., Henderson, Brian, Hutchinson, Amy, Hunter, David J., Key, Timothy J., Kolb, Suzanne, Koutros, Stella, Kraft, Peter, Le Marchand, Loic, Lindström, Sara, Machiela, Mitchell J., Ostrander, Elaine A., Riboli, Elio, Schumacher, Fred, Siddiq, Afshan, Stanford, Janet L., Stevens, Victoria L., Travis, Ruth C., Tsilidis, Konstantinos K., Virtamo, Jarmo, Weinstein, Stephanie, Wilkund, Fredrik, Xu, Jianfeng, Zheng, S. Lilly, Yu, Kai, Wheeler, William, Zhang, Han, Sampson, Joshua, Black, Amanda, Jacobs, Kevin, Hoover, Robert N, Tucker, Margaret, and Chanock, Stephen J.

Abstract

Most men diagnosed with prostate cancer will experience indolent disease; hence discovering genetic variants that distinguish aggressive from non-aggressive prostate cancer is of critical clinical importance for disease prevention and treatment. In a multistage, case-only genome-wide association study of 12,518 prostate cancer cases, we identify two loci associated with Gleason score, a pathological measure of disease aggressiveness: rs35148638 at 5q14.3 (RASA1, P=6.49×10-9) and rs78943174 at 3q26.31 (NAALADL2, P=4.18×10-8). In a stratified case-control analysis, the SNP at 5q14.3 appears specific for aggressive prostate cancer (P=8.85×10-5) with no association for non-aggressive prostate cancer compared to controls (P=0.57). The proximity of these loci to genes involved in vascular disease suggests potential biological mechanisms worthy of further investigation.

Published
2015
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31. A Systematic Mapping Approach of 16q12.2/FTO and BMI in More Than 20,000 African Americans Narrows in on the Underlying Functional Variation: Results from the Population Architecture using Genomics and Epidemiology (PAGE) Study

Author

Rajkovic, Aleksandar, Ehret, Georg, Le Marchand, Loic, Buyske, Steve, Kooperberg, Charles, Lim, Unhee, Kuller, Lew H., Nguyen, Khanh-Dung H., Ritchie, Marylyn, North, Kari E., Fesinmeyer, Megan D., Sethupathy, Praveen, Monda, Keri, Matise, Tara C., Gu, C. Charles, Haessler, Jeff, Cheng, Iona, Buzkova, Petra, Crawford, Dana C., Lewis, Cora E., Peters, Ulrike, Schumacher, Fred, Houston, Denise, Cooper, Richard, Wilkens, Lynne, Li, Rongling, Jiao, Shuo, Haiman, Christopher A., Leppert, Mark, Irvin, Marguerite R., Hindorff, Lucia A., and Jackson, Rebecca D.

Subjects
2. Zero hunger, nutritional and metabolic diseases
Abstract

Genetic variants in intron 1 of the fat mass– and obesity-associated (FTO) gene have been consistently associated with body mass index (BMI) in Europeans. However, follow-up studies in African Americans (AA) have shown no support for some of the most consistently BMI–associated FTO index single nucleotide polymorphisms (SNPs). This is most likely explained by different race-specific linkage disequilibrium (LD) patterns and lower correlation overall in AA, which provides the opportunity to fine-map this region and narrow in on the functional variant. To comprehensively explore the 16q12.2/FTO locus and to search for second independent signals in the broader region, we fine-mapped a 646–kb region, encompassing the large FTO gene and the flanking gene RPGRIP1L by investigating a total of 3,756 variants (1,529 genotyped and 2,227 imputed variants) in 20,488 AAs across five studies. We observed associations between BMI and variants in the known FTO intron 1 locus: the SNP with the most significant p-value, rs56137030 (8.3×10−6) had not been highlighted in previous studies. While rs56137030was correlated at r2>0.5 with 103 SNPs in Europeans (including the GWAS index SNPs), this number was reduced to 28 SNPs in AA. Among rs56137030 and the 28 correlated SNPs, six were located within candidate intronic regulatory elements, including rs1421085, for which we predicted allele-specific binding affinity for the transcription factor CUX1, which has recently been implicated in the regulation of FTO. We did not find strong evidence for a second independent signal in the broader region. In summary, this large fine-mapping study in AA has substantially reduced the number of common alleles that are likely to be functional candidates of the known FTO locus. Importantly our study demonstrated that comprehensive fine-mapping in AA provides a powerful approach to narrow in on the functional candidate(s) underlying the initial GWAS findings in European populations.

32. Prostate cancer meta-analysis of more than 140,000 men identifies 63 novel prostate cancer susceptibility loci

Author

Amin Al Olama, Seyed Ali, Schumacher, Fred, Amin Al Olama, Seyed Ali [0000-0002-7178-3431], and Apollo - University of Cambridge Repository

Abstract

Currently genome-wide association studies (GWAS) and fine-mapping efforts have identified over 100 prostate cancer (PrCa) susceptibility loci, yet over two thirds of the PrCa familial relative risk (FRR) remains unexplained. Therefore, we used a custom high-density array comprised of ~533K SNPs, where ~50% provided a GWAS backbone and the remainder included top association signals from several cancer-specific meta-analyses. We combined newly genotyped data from 46,939 PrCa cases and 27,910 controls of European ancestry with previously genotyped data for 32,255 PrCa cases and 33,202 controls of European ancestry. After excluding previously reported loci, our combined meta-analysis of 79,194 PrCa cases and 61,112 controls identified 62 novel susceptibility loci associated (PC [Pro1054Arg]) in ATM and rs2066827 (OR=1.06; P=2.3x10-9; T>G [Val109Gly]) in CDKN1B. The combination of our novel 62 PrCa loci with previously known loci captures 28.4% of the PrCa FRR. Using a polygenic risk score based on previous and newly identified PrCa loci, we estimate elevated PrCa risks for men in the top 90-99%-ile (RR=2.69; 95%CI: 2.55-2.82) and 1%-ile (RR=5.71; 95%CI: 5.04-6.48) risk stratum compared to the population average. These findings demonstrate the utility of high-density arrays, genotyping new sample series, and collaborative efforts for novel discovery. These results will moderately improve risk prediction, enhance fine-mapping efforts, and provide insight into the underlying biology of PrCa susceptibility.

33. Your Turn.

Author

Kunesh, Craig A., Monticello, Mike, Ferrer, Patrick, Hood, Timothy M., Park, Kevin H., Zuercher, Todd, Rettie, John, Schumacher, Fred, and Simanaitis, Dennis

Subjects
*LETTERS to the editor, *MODEL cars (Toys), *SPORTS cars, *FUEL cell vehicles, *ANNIVERSARIES
Abstract

Several letters to the editor are presented in response to articles in previous issues including "Four V-8s to Creston," that was published in the January 2008 issue, "Fuel-Cell Records," that was published in the January 2008 issue and the 40th anniversary celebration of the Baja 1000 race that was published in the December 2007 issue.

Published
2008

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