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11 results on '"Radford‐Smith, Graham"'

1. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Author

Landi, Maria Teresa, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew, Gimenez-Xavier, Pol, Rodriguez, Arantxa, Elefanti, Lisa, Manoukian, Siranoush, Rivoltini, Licia, Smith, Blair H., Loizidou, Maria A., Del Regno, Laura, Massi, Daniela, Mandala, Mario, Khosrotehrani, Kiarash, Akslen, Lars A., Amos, Christopher I., Andresen, Per A., Avril, Marie-Françoise, Azizi, Esther, Soyer, H. Peter, Bataille, Veronique, Dalmasso, Bruna, Bowdler, Lisa M., Burdon, Kathryn P., Chen, Wei V., Codd, Veryan, Craig, Jamie E., Dębniak, Tadeusz, Falchi, Mario, Fang, Shenying, Friedman, Eitan, Simi, Sarah, Galan, Pilar, Garcia-Casado, Zaida, Gillanders, Elizabeth M., Gordon, Scott, Green, Adele, Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Harris, Jessica, Helsing, Per, Henders, Anjali, Hočevar, Marko, Höiom, Veronica, Hunter, David, Ingvar, Christian, Kumar, Rajiv, Lang, Julie, Lathrop, G. Mark, Lee, Jeffrey E., Li, Xin, Lubiński, Jan, Mackie, Rona M., Malt, Maryrose, Malvehy, Josep, McAloney, Kerrie, Mohamdi, Hamida, Molven, Anders, Moses, Eric K., Neale, Rachel E., Novaković, Srdjan, Nyholt, Dale R., Olsson, Håkan, Orr, Nicholas, Fritsche, Lars G., Puig-Butille, Joan Anton, Qureshi, Abrar A., Radford-Smith, Graham L., Randerson-Moor, Juliette, Requena, Celia, Rowe, Casey, Samani, Nilesh J., Sanna, Marianna, Schadendorf, Dirk, Schulze, Hans-Joachim, Simms, Lisa A., Smithers, Mark, Song, Fengju, Swerdlow, Anthony J., van der Stoep, Nienke, Kukutsch, Nicole A., Visconti, Alessia, Wallace, Leanne, Ward, Sarah V., Wheeler, Lawrie, Sturm, Richard A., Hutchinson, Amy, Jones, Kristine, Malasky, Michael, Vogt, Aurelie, Zhou, Weiyin, Pooley, Karen A., Elder, David E., Han, Jiali, Hicks, Belynda, Hayward, Nicholas K., Kanetsky, Peter A., Brummett, Chad, Montgomery, Grant W., Olsen, Catherine M., Hayward, Caroline, Dunning, Alison M., Martin, Nicholas G., Evangelou, Evangelos, Mann, Graham J., Long, Georgina, Pharoah, Paul D. P., Easton, Douglas F., Barrett, Jennifer H., Cust, Anne E., Abecasis, Goncalo, Duffy, David L., Whiteman, David C., Gogas, Helen, De Nicolo, Arcangela, Tucker, Margaret A., Newton-Bishop, Julia A., Peris, Ketty, Chanock, Stephen J., Demenais, Florence, Brown, Kevin M., Puig, Susana, Nagore, Eduardo, Shi, Jianxin, Iles, Mark M., and Law, Matthew H.

Published
2020
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2. Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

Author

MacGregor, Stuart, Ong, Jue-Sheng, An, Jiyuan, Han, Xikun, Zhou, Tiger, Siggs, Owen M., Law, Matthew H., Souzeau, Emmanuelle, Sharma, Shiwani, Lynn, David J., Beesley, Jonathan, Sheldrick, Bronwyn, Mills, Richard A., Landers, John, Ruddle, Jonathan B., Graham, Stuart L., Healey, Paul R., White, Andrew J. R., Casson, Robert J., Best, Stephen, Grigg, John R, Goldberg, Ivan, Powell, Joseph E., Whiteman, David C., Radford-Smith, Graham L., Martin, Nicholas G., Montgomery, Grant W., Burdon, Kathryn P., Mackey, David A., Gharahkhani, Puya, Craig, Jamie E., and Hewitt, Alex W.

Published
2018
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3. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Author

Law, Matthew H, Bishop, D Timothy, Lee, Jeffrey E, Brossard, Myriam, Martin, Nicholas G, Moses, Eric K, Song, Fengju, Barrett, Jennifer H, Kumar, Rajiv, Easton, Douglas F, Pharoah, Paul D P, Swerdlow, Anthony J, Kypreou, Katerina P, Taylor, John C, Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A, Andresen, Per A, Avril, Marie-Françoise, Azizi, Esther, Scarrà, Giovanna Bianchi, Brown, Kevin M, Dȩbniak, Tadeusz, Duffy, David L, Elder, David E, Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Gillanders, Elizabeth M, Goldstein, Alisa M, Gruis, Nelleke A, Hansson, Johan, Helsing, Per, Hočevar, Marko, Höiom, Veronica, Ingvar, Christian, Kanetsky, Peter A, Chen, Wei V, Landi, Maria Teresa, Lang, Julie, Lathrop, G Mark, Lubiński, Jan, Mackie, Rona M, Mann, Graham J, Molven, Anders, Montgomery, Grant W, Novaković, Srdjan, Olsson, Håkan, Puig, Susana, Puig-Butille, Joan Anton, Qureshi, Abrar A, Radford-Smith, Graham L, van der Stoep, Nienke, van Doorn, Remco, Whiteman, David C, Craig, Jamie E, Schadendorf, Dirk, Simms, Lisa A, Burdon, Kathryn P, Nyholt, Dale R, Pooley, Karen A, Orr, Nick, Stratigos, Alexander J, Cust, Anne E, Ward, Sarah V, Hayward, Nicholas K, Han, Jiali, Schulze, Hans-Joachim, Dunning, Alison M, Bishop, Julia A Newton, Demenais, Florence, Amos, Christopher I, MacGregor, Stuart, and Iles, Mark M

Published
2015
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4. High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

Author

Goyette, Philippe, Boucher, Gabrielle, Mallon, Dermot, Ellinghaus, Eva, Jostins, Luke, Huang, Hailiang, Ripke, Stephan, Gusareva, Elena S., Annese, Vito, Hauser, Stephen L., Oksenberg, Jorge R., Thomsen, Ingo, Leslie, Stephen, Daly, Mark J., Van Steen, Kristel, Duerr, Richard H., Barrett, Jeffrey C., Mcgovern, Dermot P. B., Schumm, L. Philip, Traherne, James A., Carrington, Mary N., Kosmoliaptsis, Vasilis, Karlsen, Tom H., Franke, Andre, Rioux, John D., Abraham, Clara, Achkar, Jean Paul, Ahmad, Tariq, Amininejad, Leila, Ananthakrishnan, Ashwin N., Andersen, Vibeke, Anderson, Carl A., Andrews, Jane M., Aumais, Guy, Baidoo, Leonard, Baldassano, Robert N., Balschun, Tobias, Bampton, Peter A., Barclay, Murray, Bayless, Theodore M., Bethge, Johannes, Bis, Joshua C., Bitton, Alain, Brand, Stephan, Brant, Steven R., Buning, Carsten, Chew, Angela, Cho, Judy H., Cleynen, Isabelle, Cohain, Ariella, Croft, Anthony, D'Amato, Mauro, Danese, Silvio, De Jong, Dirk, De Vos, Martine, Denapiene, Goda, Denson, Lee A., Devaney, Kathy L., Dewit, Olivier, D'Inca, Renata, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Essers, Jonah, Ferguson, Lynnette R., Festen, Eleonora A., Fleshner, Philip, Florin, Tim, Franchimont, Denis, Fransen, Karin, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jurgen, Green, Todd, Griffiths, Anne M., Guthery, Stephen L., Hakonarson, Hakon, Halfvarson, Jonas, Hanigan, Katherine, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hayward, Nicholas K., Hedl, Matija, Henderson, Paul, Xinli, Hu, Hui, Ken Y., Imielinski, Marcin, Ippoliti, Andrew, Jonaitis, Laimas, Kennedy, Nicholas A., Khan, Mohammed Azam, Kiudelis, Gediminas, Kugathasan, Subra, Kupcinskas, Limas, Latiano, Anna, Laukens, Debby, Lawrance, Ian C., Lee, James C., Lees, Charlie W., Leja, Marcis, Van Limbergen, Johan, Lionetti, Paolo, Liu, Jimmy Z., Louis, Edouard, Mahy, Gillian, Mansfield, John, Massey, Dunecan, Mathew, Christopher G., Milgrom, Raquel, Mitrovic, Mitja, Montgomery, Grant, Mowat, Craig, Newman, Wwilliam, Aylwin, Ng, Siew C., Ng, Evelyn Ng, Sok Meng, Nikolaus, Susanna, Ning, Kaida, Nothen, Markus, Oikonomou, Ioannis, Palmieri, Orazio, Parkes, Miles, Phillips, Anne, Ponsioen, Cyriel Y., Potocnik, Uros, Prescott, Natalie J., Proctor, Deborah D., Radford Smith, Graham, Rahier, Jean Francois, Raychaudhur, Soumya, Regueiro, Miguel, Rieder, Florian, Roberts, Rebecca, Russell, Richard K., Sanderson, Jeremy D., Sans, Miquel, Satsangi, Jack, Schadt, Eric E., Schreiber, Stefan, Scott, Regan, Seielstad, Mark, Sharma, Yashoda, Silverberg, Mark S., Simms, Lisa A., Skieceviciene, Jurgita, Spain, Sarah L., Steinhart, A. Hillary, Stempak, Joanne M., Stronati, Laura, Sventoraityte, Jurgita, Targan, Stephan R., Taylor, Kirstin M., Ter Velde, Anje, Theatre, Emilie, Torkvist, Leif, Tremelling, Mark, Van Der Meulen, Andrea, Van Sommeren, Suzanne, Vasiliauskas, Eric, Vermeire, Severine, Verspaget, Hein W., Walters, Thomas, Wwang, Kai, Wwang, Ming Hsi, Wweersma, Rinse K., Wei, Zhi, Whiteman, David, Wijmenga, Cisca, Wilson, David C., Winkelmann, Juliane, Xavier, Ramnik J., Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K., Zhang, Hu, Zhang, Wwei, Zhao, Hongyu, Zhao, Zhen Z., Gastroenterology and Hepatology, Traherne, James [0000-0002-6003-8559], Kosmoliaptsis, Vasilis [0000-0001-7298-1387], and Apollo - University of Cambridge Repository

Subjects
Heterozygote, Genotype, Genotyping Techniques, Genetic Linkage, Ulcerative, Human leukocyte antigen, Biology, Major histocompatibility complex, Polymorphism, Single Nucleotide, Article, Primary sclerosing cholangitis, Major Histocompatibility Complex, Alleles, Chromosome Mapping, Colitis, Ulcerative, Crohn Disease, Genetic Predisposition to Disease, Genome-Wide Association Study, HLA-DRB1 Chains, Humans, Inflammatory Bowel Diseases, Phenotype, Genetics, medicine, HLA-DR, Polymorphism, Colitis, HLA-DRB1, Crohn's disease, Single Nucleotide, medicine.disease, Ulcerative colitis, digestive system diseases, Immunology, biology.protein
Abstract

Genome-wide association studies of the related chronic inflammatory bowel diseases (IBD) known as Crohn's disease and ulcerative colitis have shown strong evidence of association to the major histocompatibility complex (MHC). This region encodes a large number of immunological candidates, including the antigen-presenting classical human leukocyte antigen (HLA) molecules. Studies in IBD have indicated that multiple independent associations exist at HLA and non-HLA genes, but they have lacked the statistical power to define the architecture of association and causal alleles. To address this, we performed high-density SNP typing of the MHC in >32,000 individuals with IBD, implicating multiple HLA alleles, with a primary role for HLA-DRB1*01:03 in both Crohn's disease and ulcerative colitis. Noteworthy differences were observed between these diseases, including a predominant role for class II HLA variants and heterozygous advantage observed in ulcerative colitis, suggesting an important role of the adaptive immune response in the colonic environment in the pathogenesis of IBD.

Published
2015

5. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Author

Craig, Jamie E., Han, Xikun, Qassim, Ayub, Hassall, Mark, Cooke Bailey, Jessica N., Kinzy, Tyler G., Khawaja, Anthony P., An, Jiyuan, Marshall, Henry, Gharahkhani, Puya, Igo, Robert P., Graham, Stuart L., Healey, Paul R., Ong, Jue-Sheng, Zhou, Tiger, Siggs, Owen, Law, Matthew H., Souzeau, Emmanuelle, Ridge, Bronwyn, Hysi, Pirro G., Burdon, Kathryn P., Mills, Richard A., Landers, John, Ruddle, Jonathan B., Agar, Ashish, Galanopoulos, Anna, White, Andrew J. R., Willoughby, Colin E., Andrew, Nicholas H., Best, Stephen, Vincent, Andrea L., Goldberg, Ivan, Radford-Smith, Graham, Martin, Nicholas G., Montgomery, Grant W., Vitart, Veronique, Hoehn, Rene, Wojciechowski, Robert, Jonas, Jost B., Aung, Tin, Pasquale, Louis R., Cree, Angela Jane, Sivaprasad, Sobha, Vallabh, Neeru A., Viswanathan, Ananth C., Pasutto, Francesca, Haines, Jonathan L., Klaver, Caroline C. W., van Duijn, Cornelia M., Casson, Robert J., Foster, Paul J., Khaw, Peng Tee, Hammond, Christopher J., Mackey, David A., Mitchell, Paul, Lotery, Andrew J., Wiggs, Janey L., Hewitt, Alex W., and MacGregor, Stuart

Abstract

Glaucoma, a disease characterized by progressive optic nerve degeneration, can be prevented through timely diagnosis and treatment. We characterize optic nerve photographs of 67,040 UK Biobank participants and use a multitrait genetic model to identify risk loci for glaucoma. A glaucoma polygenic risk score (PRS) enables effective risk stratification in unselected glaucoma cases and modifies penetrance of the MYOCvariant encoding p.Gln368Ter, the most common glaucoma-associated myocilin variant. In the unselected glaucoma population, individuals in the top PRS decile reach an absolute risk for glaucoma 10 years earlier than the bottom decile and are at 15-fold increased risk of developing advanced glaucoma (top 10% versus remaining 90%, odds ratio = 4.20). The PRS predicts glaucoma progression in prospectively monitored, early manifest glaucoma cases (P= 0.004) and surgical intervention in advanced disease (P= 3.6 × 10−6). This glaucoma PRS will facilitate the development of a personalized approach for earlier treatment of high-risk individuals, with less intensive monitoring and treatment being possible for lower-risk groups.

Published
2020
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6. Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Author

Anderson, Carl A, primary, Boucher, Gabrielle, additional, Lees, Charlie W, additional, Franke, Andre, additional, D'Amato, Mauro, additional, Taylor, Kent D, additional, Lee, James C, additional, Goyette, Philippe, additional, Imielinski, Marcin, additional, Latiano, Anna, additional, Lagacé, Caroline, additional, Scott, Regan, additional, Amininejad, Leila, additional, Bumpstead, Suzannah, additional, Baidoo, Leonard, additional, Baldassano, Robert N, additional, Barclay, Murray, additional, Bayless, Theodore M, additional, Brand, Stephan, additional, Büning, Carsten, additional, Colombel, Jean-Frédéric, additional, Denson, Lee A, additional, De Vos, Martine, additional, Dubinsky, Marla, additional, Edwards, Cathryn, additional, Ellinghaus, David, additional, Fehrmann, Rudolf S N, additional, Floyd, James A B, additional, Florin, Timothy, additional, Franchimont, Denis, additional, Franke, Lude, additional, Georges, Michel, additional, Glas, Jürgen, additional, Glazer, Nicole L, additional, Guthery, Stephen L, additional, Haritunians, Talin, additional, Hayward, Nicholas K, additional, Hugot, Jean-Pierre, additional, Jobin, Gilles, additional, Laukens, Debby, additional, Lawrance, Ian, additional, Lémann, Marc, additional, Levine, Arie, additional, Libioulle, Cecile, additional, Louis, Edouard, additional, McGovern, Dermot P, additional, Milla, Monica, additional, Montgomery, Grant W, additional, Morley, Katherine I, additional, Mowat, Craig, additional, Ng, Aylwin, additional, Newman, William, additional, Ophoff, Roel A, additional, Papi, Laura, additional, Palmieri, Orazio, additional, Peyrin-Biroulet, Laurent, additional, Panés, Julián, additional, Phillips, Anne, additional, Prescott, Natalie J, additional, Proctor, Deborah D, additional, Roberts, Rebecca, additional, Russell, Richard, additional, Rutgeerts, Paul, additional, Sanderson, Jeremy, additional, Sans, Miquel, additional, Schumm, Philip, additional, Seibold, Frank, additional, Sharma, Yashoda, additional, Simms, Lisa A, additional, Seielstad, Mark, additional, Steinhart, A Hillary, additional, Targan, Stephan R, additional, van den Berg, Leonard H, additional, Vatn, Morten, additional, Verspaget, Hein, additional, Walters, Thomas, additional, Wijmenga, Cisca, additional, Wilson, David C, additional, Westra, Harm-Jan, additional, Xavier, Ramnik J, additional, Zhao, Zhen Z, additional, Ponsioen, Cyriel Y, additional, Andersen, Vibeke, additional, Torkvist, Leif, additional, Gazouli, Maria, additional, Anagnou, Nicholas P, additional, Karlsen, Tom H, additional, Kupcinskas, Limas, additional, Sventoraityte, Jurgita, additional, Mansfield, John C, additional, Kugathasan, Subra, additional, Silverberg, Mark S, additional, Halfvarson, Jonas, additional, Rotter, Jerome I, additional, Mathew, Christopher G, additional, Griffiths, Anne M, additional, Gearry, Richard, additional, Ahmad, Tariq, additional, Brant, Steven R, additional, Chamaillard, Mathias, additional, Satsangi, Jack, additional, Cho, Judy H, additional, Schreiber, Stefan, additional, Daly, Mark J, additional, Barrett, Jeffrey C, additional, Parkes, Miles, additional, Annese, Vito, additional, Hakonarson, Hakon, additional, Radford-Smith, Graham, additional, Duerr, Richard H, additional, Vermeire, Séverine, additional, Weersma, Rinse K, additional, and Rioux, John D, additional

Published
2011
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7. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Author

Anderson, Carl A, primary, Boucher, Gabrielle, additional, Lees, Charlie W, additional, Franke, Andre, additional, D'Amato, Mauro, additional, Taylor, Kent D, additional, Lee, James C, additional, Goyette, Philippe, additional, Imielinski, Marcin, additional, Latiano, Anna, additional, Lagacé, Caroline, additional, Scott, Regan, additional, Amininejad, Leila, additional, Bumpstead, Suzannah, additional, Baidoo, Leonard, additional, Baldassano, Robert N, additional, Barclay, Murray, additional, Bayless, Theodore M, additional, Brand, Stephan, additional, Büning, Carsten, additional, Colombel, Jean-Frédéric, additional, Denson, Lee A, additional, De Vos, Martine, additional, Dubinsky, Marla, additional, Edwards, Cathryn, additional, Ellinghaus, David, additional, Fehrmann, Rudolf S N, additional, Floyd, James A B, additional, Florin, Timothy, additional, Franchimont, Denis, additional, Franke, Lude, additional, Georges, Michel, additional, Glas, Jürgen, additional, Glazer, Nicole L, additional, Guthery, Stephen L, additional, Haritunians, Talin, additional, Hayward, Nicholas K, additional, Hugot, Jean-Pierre, additional, Jobin, Gilles, additional, Laukens, Debby, additional, Lawrance, Ian, additional, Lémann, Marc, additional, Levine, Arie, additional, Libioulle, Cecile, additional, Louis, Edouard, additional, McGovern, Dermot P, additional, Milla, Monica, additional, Montgomery, Grant W, additional, Morley, Katherine I, additional, Mowat, Craig, additional, Ng, Aylwin, additional, Newman, William, additional, Ophoff, Roel A, additional, Papi, Laura, additional, Palmieri, Orazio, additional, Peyrin-Biroulet, Laurent, additional, Panés, Julián, additional, Phillips, Anne, additional, Prescott, Natalie J, additional, Proctor, Deborah D, additional, Roberts, Rebecca, additional, Russell, Richard, additional, Rutgeerts, Paul, additional, Sanderson, Jeremy, additional, Sans, Miquel, additional, Schumm, Philip, additional, Seibold, Frank, additional, Sharma, Yashoda, additional, Simms, Lisa A, additional, Seielstad, Mark, additional, Steinhart, A Hillary, additional, Targan, Stephan R, additional, van den Berg, Leonard H, additional, Vatn, Morten, additional, Verspaget, Hein, additional, Walters, Thomas, additional, Wijmenga, Cisca, additional, Wilson, David C, additional, Westra, Harm-Jan, additional, Xavier, Ramnik J, additional, Zhao, Zhen Z, additional, Ponsioen, Cyriel Y, additional, Andersen, Vibeke, additional, Torkvist, Leif, additional, Gazouli, Maria, additional, Anagnou, Nicholas P, additional, Karlsen, Tom H, additional, Kupcinskas, Limas, additional, Sventoraityte, Jurgita, additional, Mansfield, John C, additional, Kugathasan, Subra, additional, Silverberg, Mark S, additional, Halfvarson, Jonas, additional, Rotter, Jerome I, additional, Mathew, Christopher G, additional, Griffiths, Anne M, additional, Gearry, Richard, additional, Ahmad, Tariq, additional, Brant, Steven R, additional, Chamaillard, Mathias, additional, Satsangi, Jack, additional, Cho, Judy H, additional, Schreiber, Stefan, additional, Daly, Mark J, additional, Barrett, Jeffrey C, additional, Parkes, Miles, additional, Annese, Vito, additional, Hakonarson, Hakon, additional, Radford-Smith, Graham, additional, Duerr, Richard H, additional, Vermeire, Séverine, additional, Weersma, Rinse K, additional, and Rioux, John D, additional

Published
2011
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8. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

Author

Franke, Andre, primary, McGovern, Dermot P B, additional, Barrett, Jeffrey C, additional, Wang, Kai, additional, Radford-Smith, Graham L, additional, Ahmad, Tariq, additional, Lees, Charlie W, additional, Balschun, Tobias, additional, Lee, James, additional, Roberts, Rebecca, additional, Anderson, Carl A, additional, Bis, Joshua C, additional, Bumpstead, Suzanne, additional, Ellinghaus, David, additional, Festen, Eleonora M, additional, Georges, Michel, additional, Green, Todd, additional, Haritunians, Talin, additional, Jostins, Luke, additional, Latiano, Anna, additional, Mathew, Christopher G, additional, Montgomery, Grant W, additional, Prescott, Natalie J, additional, Raychaudhuri, Soumya, additional, Rotter, Jerome I, additional, Schumm, Philip, additional, Sharma, Yashoda, additional, Simms, Lisa A, additional, Taylor, Kent D, additional, Whiteman, David, additional, Wijmenga, Cisca, additional, Baldassano, Robert N, additional, Barclay, Murray, additional, Bayless, Theodore M, additional, Brand, Stephan, additional, Büning, Carsten, additional, Cohen, Albert, additional, Colombel, Jean-Frederick, additional, Cottone, Mario, additional, Stronati, Laura, additional, Denson, Ted, additional, De Vos, Martine, additional, D'Inca, Renata, additional, Dubinsky, Marla, additional, Edwards, Cathryn, additional, Florin, Tim, additional, Franchimont, Denis, additional, Gearry, Richard, additional, Glas, Jürgen, additional, Van Gossum, Andre, additional, Guthery, Stephen L, additional, Halfvarson, Jonas, additional, Verspaget, Hein W, additional, Hugot, Jean-Pierre, additional, Karban, Amir, additional, Laukens, Debby, additional, Lawrance, Ian, additional, Lemann, Marc, additional, Levine, Arie, additional, Libioulle, Cecile, additional, Louis, Edouard, additional, Mowat, Craig, additional, Newman, William, additional, Panés, Julián, additional, Phillips, Anne, additional, Proctor, Deborah D, additional, Regueiro, Miguel, additional, Russell, Richard, additional, Rutgeerts, Paul, additional, Sanderson, Jeremy, additional, Sans, Miquel, additional, Seibold, Frank, additional, Steinhart, A Hillary, additional, Stokkers, Pieter C F, additional, Torkvist, Leif, additional, Kullak-Ublick, Gerd, additional, Wilson, David, additional, Walters, Thomas, additional, Targan, Stephan R, additional, Brant, Steven R, additional, Rioux, John D, additional, D'Amato, Mauro, additional, Weersma, Rinse K, additional, Kugathasan, Subra, additional, Griffiths, Anne M, additional, Mansfield, John C, additional, Vermeire, Severine, additional, Duerr, Richard H, additional, Silverberg, Mark S, additional, Satsangi, Jack, additional, Schreiber, Stefan, additional, Cho, Judy H, additional, Annese, Vito, additional, Hakonarson, Hakon, additional, Daly, Mark J, additional, and Parkes, Miles, additional

Published
2010
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9. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

Author

Molven, Anders, Puig-Butille, Joan Anton, Andresen, Per A, van Doorn, Remco, Taylor, John C, Hočevar, Marko, Lee, Jeffrey E, Fang, Shenying, Pharoah, Paul D P, Radford-Smith, Graham L, Schadendorf, Dirk, Kypreou, Katerina P, Stratigos, Alexander J, Bishop, D Timothy, Barrett, Jennifer H, Bishop, Julia A Newton, Mann, Graham J, Montgomery, Grant W, Craig, Jamie E, and Martin, Nicholas G

Subjects
MELANOMA, HUMAN genome, META-analysis, SINGLE nucleotide polymorphisms, TELOMERES, GENETICS
Abstract

Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P < 5 × 10−8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology. [ABSTRACT FROM AUTHOR]

Published
2015
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10. Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.

Author

Gharahkhani, Puya, MacGregor, Stuart, Hauser, Michael A, Viswanathan, Ananth C, Foster, Paul J, McGuffin, Peter, Topouzis, Fotis, Graham, Stuart L, Casson, Robert J, Chehade, Mark, White, Andrew J, Healey, Paul R, Wang, Jie Jin, Mitchell, Paul, Klebe, Sonja, Goldberg, Ivan, Radford-Smith, Graham, Burdon, Kathryn P, Mackey, David A, and Craig, Jamie E

Subjects
OPEN-angle glaucoma, BLINDNESS, GENOMES, RETINA, OPTIC nerve, CANCELLOUS bone, RETINAL ganglion cells, DISEASE risk factors
Abstract

Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls. We investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts (932 cases and 6,862 controls total) and two US replication cohorts (2,616 cases and 2,634 controls total). Meta-analysis of all cohorts identified three loci newly associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493[G], odds ratio (OR) = 1.31, P = 2.1 × 10−19), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 × 10−10) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 × 10−10). Using RT-PCR and immunolabeling, we show that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells. [ABSTRACT FROM AUTHOR]

Published
2014
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11. HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants.

Author

Heap GA, Weedon MN, Bewshea CM, Singh A, Chen M, Satchwell JB, Vivian JP, So K, Dubois PC, Andrews JM, Annese V, Bampton P, Barnardo M, Bell S, Cole A, Connor SJ, Creed T, Cummings FR, D'Amato M, Daneshmend TK, Fedorak RN, Florin TH, Gaya DR, Greig E, Halfvarson J, Hart A, Irving PM, Jones G, Karban A, Lawrance IC, Lee JC, Lees C, Lev-Tzion R, Lindsay JO, Mansfield J, Mawdsley J, Mazhar Z, Parkes M, Parnell K, Orchard TR, Radford-Smith G, Russell RK, Reffitt D, Satsangi J, Silverberg MS, Sturniolo GC, Tremelling M, Tsianos EV, van Heel DA, Walsh A, Watermeyer G, Weersma RK, Zeissig S, Rossjohn J, Holden AL, and Ahmad T

Subjects
Azathioprine adverse effects, Azathioprine chemistry, Azathioprine metabolism, Gene Frequency, Genome-Wide Association Study, Genotype, HLA-DQ alpha-Chains chemistry, HLA-DQ alpha-Chains metabolism, HLA-DRB1 Chains chemistry, HLA-DRB1 Chains metabolism, Haplotypes, Humans, Immunosuppressive Agents adverse effects, Immunosuppressive Agents chemistry, Immunosuppressive Agents metabolism, Inflammatory Bowel Diseases drug therapy, Mercaptopurine adverse effects, Mercaptopurine chemistry, Mercaptopurine metabolism, Models, Molecular, Molecular Structure, Pancreatitis chemically induced, Protein Binding, Protein Structure, Tertiary, Risk Factors, Genetic Predisposition to Disease genetics, HLA-DQ alpha-Chains genetics, HLA-DRB1 Chains genetics, Pancreatitis genetics, Polymorphism, Single Nucleotide
Abstract

Pancreatitis occurs in approximately 4% of patients treated with the thiopurines azathioprine or mercaptopurine. Its development is unpredictable and almost always leads to drug withdrawal. We identified patients with inflammatory bowel disease (IBD) who had developed pancreatitis within 3 months of starting these drugs from 168 sites around the world. After detailed case adjudication, we performed a genome-wide association study on 172 cases and 2,035 controls with IBD. We identified strong evidence of association within the class II HLA region, with the most significant association identified at rs2647087 (odds ratio 2.59, 95% confidence interval 2.07-3.26, P = 2 × 10(-16)). We replicated these findings in an independent set of 78 cases and 472 controls with IBD matched for drug exposure. Fine mapping of the HLA region identified association with the HLA-DQA1*02:01-HLA-DRB1*07:01 haplotype. Patients heterozygous at rs2647087 have a 9% risk of developing pancreatitis after administration of a thiopurine, whereas homozygotes have a 17% risk.

Published
2014
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