2 results
Contributors
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- By Mark S. Aloia, Ellemarije Altena, Peter Anderer, Christopher L. Asplund, Nitin Bangera, Jeroen S. Benjamins, Daniela Berg, Bohdan Bybel, Vincenza Castronovo, Suk-tak Chan, Michael W. L. Chee, Pietro Cortelli, Michael Czisch, Joseph T. Daley, Thien Thanh Dang-Vu, Yazmín de la Garza-Neme, Lourdes DelRosso, Derk-Jan Dijk, Maria Engström, Thorleif Etgen, Bruce J. Fisch, Ariane Foret, Patrice Fort, Steffen Gais, Anne Germain, Jana Godau, Andrew L. Goertzen, William A. Gomes, Ronald M. Harper, Seung Bong Hong, Romy Hoque, Scott A. Huettel, Yuichi Inoue, Alex Iranzo, Mathieu Jaspar, Zayd Jedidi, Alejandro Jiménez-Genchi, Eun Yeon Joo, Gerhard Klösch, Karsten Krakow, Rajesh Kumar, Caroline Kussé, Hans-Peter Landolt, Helmut Laufs, Jeffrey David Lewine, Camilo Libedinsky, Michael L. Lipton, Mordechai Lorberboym, Cheng Luo, Pierre-Hervé Luppi, Paul M. Macey, Pierre Maquet, Laura Mascetti, Christelle Meyer, Sarah Moens, Vincenzo Muto, Shadreck Mzengeza, Eric Nofzinger, Takashi Nomura, Daniela Perani, Jennifer R. Ramautar, Bernd Saletu, Michael T. Saletu, Gerda Saletu-Zyhlarz, Christina Schmidt, Monika Schönauer, Richard J. Schwab, Sophie Schwartz, Keivan Shifteh, Sanjib Sinha, Victor I. Spoormaker, Ryan P. J. Stocker, A. Jon Stoessl, Diederick Stoffers, A. B. Taly, Robert Joseph Thomas, Michael J. Thorpy, Emily Urry, Jason Valerio, Ysbrand D. Van Der Werf, Gilles Vandewalle, Hans P. A. Van Dongen, Eus J. W. Van Someren, Vinod Venkatraman, Frederic von Wegner, Thomas C. Wetter, Dezhong Yao
- Edited by Eric Nofzinger, University of Pittsburgh, Pierre Maquet, Université de Liège, Belgium, Michael J. Thorpy
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- Book:
- Neuroimaging of Sleep and Sleep Disorders
- Published online:
- 05 March 2013
- Print publication:
- 07 March 2013, pp viii-xii
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Genome-Wide Association Study for Ovarian Cancer Susceptibility Using Pooled DNA
- Yi Lu, Xiaoqing Chen, Jonathan Beesley, Sharon E. Johnatty, Anna deFazio, Australian Ovarian Cancer Study (AOCS) Study Group, Sandrina Lambrechts, Diether Lambrechts, Evelyn Despierre, Ignace Vergotes, Jenny Chang-Claude, Rebecca Hein, Stefan Nickels, Shan Wang-Gohrke, Thilo Dörk, Matthias Dürst, Natalia Antonenkova, Natalia Bogdanova, Marc T. Goodman, Galina Lurie, Lynne R. Wilkens, Michael E. Carney, Ralf Butzow, Heli Nevanlinna, Tuomas Heikkinen, Arto Leminen, Lambertus A. Kiemeney, Leon F.A.G. Massuger, Anne M. van Altena, Katja K. Aben, Susanne Krüger Kjaer, Estrid Høgdall, Allan Jensen, Angela Brooks-Wilson, Nhu Le, Linda Cook, Madalene Earp, Linda Kelemen, Douglas Easton, Paul Pharoah, Honglin Song, Jonathan Tyrer, Susan Ramus, Usha Menon, Alexandra Gentry-Maharaj, Simon A. Gayther, Elisa V. Bandera, Sara H. Olson, Irene Orlow, Lorna Rodriguez-Rodriguez, Stuart Macgregor, Georgia Chenevix-Trench
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- Journal:
- Twin Research and Human Genetics / Volume 15 / Issue 5 / October 2012
- Published online by Cambridge University Press:
- 13 July 2012, pp. 615-623
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- Article
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Recent Genome-Wide Association Studies (GWAS) have identified four low-penetrance ovarian cancer susceptibility loci. We hypothesized that further moderate- or low-penetrance variants exist among the subset of single-nucleotide polymorphisms (SNPs) not well tagged by the genotyping arrays used in the previous studies, which would account for some of the remaining risk. We therefore conducted a time- and cost-effective stage 1 GWAS on 342 invasive serous cases and 643 controls genotyped on pooled DNA using the high-density Illumina 1M-Duo array. We followed up 20 of the most significantly associated SNPs, which are not well tagged by the lower density arrays used by the published GWAS, and genotyping them on individual DNA. Most of the top 20 SNPs were clearly validated by individually genotyping the samples used in the pools. However, none of the 20 SNPs replicated when tested for association in a much larger stage 2 set of 4,651 cases and 6,966 controls from the Ovarian Cancer Association Consortium. Given that most of the top 20 SNPs from pooling were validated in the same samples by individual genotyping, the lack of replication is likely to be due to the relatively small sample size in our stage 1 GWAS rather than due to problems with the pooling approach. We conclude that there are unlikely to be any moderate or large effects on ovarian cancer risk untagged by less dense arrays. However, our study lacked power to make clear statements on the existence of hitherto untagged small-effect variants.