Wednesday, March 27, 2013

Nature Genetics Contents: April 2013 pp 339 - 465

Nature Genetics


Advertisement
GRANT - Staying on the cutting edge is all about collaboration.
That's why Expression Analysis & Illumina have combined forces to help fuel your research -
FULLY-FUNDED GRANT - Integrated Biology Approach to Genetic Research.
Apply online today or call 919-405-2248 * 866-293-6094
TABLE OF CONTENTS

April 2013 Volume 45, Issue 4

Focus
Editorial
Foreword
Commentaries
Research Highlights
Articles
Letters
Analysis
Articles
Letters
Advertisement


Simply Spectracular - Highest flexibility in photometry

The Detection portfolio from Eppendorf enables you to select the optimal combination of devices and accessories from a large, rapidly expanding range of products. From fluorescence-based or kinetic applications to microvolume measurements.

www.eppendorf.com/photometry
www.eppendorf.com/cuvettenavigator
www.eppendorf.com/cuvette



Subscribe
 
Facebook
 
RSS
 
Recommend to library
 
Twitter
 

Advertisement
EpiCongress Boston - Placing you at the heart of Epigenetic Drug Development
23-26 July 2013

With 3 streams covering the full spectrum:


Fundamental Epigenetics
Epigenetic Innovations
Epigenetics in the Clinic

Join the community of scientists who are committed to realizing the potential of epigenetic drugs. Feat. GSK, Epizyme, Constellation, Pfizer, Genentech, Celgene, plus many more.

www.epic-boston.com
Naturejobs
 
Advertisement

Get the most from your NGS data with Sequenom’s MassARRAY® system

  • Validate from tens to thousands of samples across tens to hundreds of SNPs
  • Design you own assays against any SNP of interest
  • Run a variety of applications including genotyping, DNA methylation and somatic mutation analysis

 

Focus

Top
Focus on cancr risk
Focus issue: April 2013 Volume 45, No 4

Editorial

Top

Predicting the influence of common variants   p339
doi:10.1038/ng.2605
An ever-larger proportion of the liability to common and complex disease can be obtained by progressively larger studies. However, for most diseases, the sample sizes required to gain usable predictions will be out of reach of sequencing technologies for the foreseeable future. Array-based genotyping genome-wide association studies (GWAS) still offer a reliable harvest of biological hypotheses for many diseases, together with the secondary benefit of slowly improving prediction.

Foreword

Top

iCOGS collection provides a collaborative model   p343
Orli G Bahcall
doi:10.1038/ng.2592
We are pleased to present this iCOGS Focus comprising a collection of papers by the COGS (Collaborative Oncological Gene-environment Study) Consortium. This represents a significant advance in our understanding of genetic susceptibility to three hormone-related cancers—breast, ovarian and prostate.

Commentaries

Turning of COGS moves forward findings for hormonally mediated cancers   pp345 - 348
Lori C Sakoda, Eric Jorgenson and John S Witte
doi:10.1038/ng.2587

Public health implications from COGS and potential for risk stratification and screening   pp349 - 351
Hilary Burton, Susmita Chowdhury, Tom Dent, Alison Hall, Nora Pashayan and Paul Pharoah
doi:10.1038/ng.2582

Research Highlights

BRCA1 mutation carriers | BRCA2 mutation carriers | Breast cancer associations in east Asians | Fine mapping at the 11q13 locus | Fine mapping at the TERT locus

Genetics
JOBS of the week
Director of the Centre for Developmental & Biomedical Genetics
The University of Sheffield
Postdoctoral Associate in the Genetics of Reading Disability (Dyslexia)
Yale University School of Medicine
Chair, Department of Genetics
Perelman School of Medicine at the University of Pennsylvania
Postdoctoral Opportunities in Genomics
GIGA Genetics
Postdoctoral Scientist - Functional Genomics Group
The Garvan Institute of Medical Research
More Science jobs from
Genetics
EVENT
European Humen Genetics Conference
06.08.13
Paris, France
More science events from

Articles

Top

Large-scale genotyping identifies 41 new loci associated with breast cancer risk   pp353 - 361
Kyriaki Michailidou, Per Hall, Anna Gonzalez-Neira, Maya Ghoussaini, Joe Dennis, Roger L Milne, Marjanka K Schmidt, Jenny Chang-Claude, Stig E Bojesen, Manjeet K Bolla, Qin Wang, Ed Dicks, Andrew Lee, Clare Turnbull, Nazneen Rahman, The Breast and Ovarian Cancer Susceptibility Collaboration, Olivia Fletcher, Julian Peto, Lorna Gibson, Isabel dos Santos Silva, Heli Nevanlinna, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Kamila Czene, Astrid Irwanto, Jianjun Liu, Quinten Waisfisz, Hanne Meijers-Heijboer, Muriel Adank, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Rob B van der Luijt, Rebecca Hein, Norbert Dahmen, Lars Beckman, Alfons Meindl, Rita K Schmutzler, Bertram Müller-Myhsok, Peter Lichtner, John L Hopper, Melissa C Southey, Enes Makalic, Daniel F Schmidt, Andre G Uitterlinden, Albert Hofman, David J Hunter, Stephen J Chanock, Daniel Vincent, François Bacot, Daniel C Tessier, Sander Canisius, Lodewyk F A Wessels, Christopher A Haiman, Mitul Shah, Robert Luben, Judith Brown, Craig Luccarini, Nils Schoof, Keith Humphreys, Jingmei Li, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Fergus J Couch, Xianshu Wang, Celine Vachon, Kristen N Stevens, Diether Lambrechts, Matthieu Moisse, Robert Paridaens, Marie-Rose Christiaens, Anja Rudolph, Stefan Nickels, Dieter Flesch-Janys, Nichola Johnson, Zoe Aitken, Kirsimari Aaltonen, Tuomas Heikkinen, Annegien Broeks, Laura J Van't Veer, C Ellen van der Schoot, Pascal Guénel, Thérèse Truong, Pierre Laurent-Puig, Florence Menegaux, Frederik Marme, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, M Pilar Zamora, Jose Ignacio Arias Perez, Guillermo Pita, M Rosario Alonso, Angela Cox, Ian W Brock, Simon S Cross, Malcolm W R Reed, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Irene L Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, kConFab Investigators, Australian Ovarian Cancer Study Group, Annika Lindblom, Sara Margolin, Maartje J Hooning, Antoinette Hollestelle, Ans M W van den Ouweland, Agnes Jager, Quang M Bui, Jennifer Stone, Gillian S Dite, Carmel Apicella, Helen Tsimiklis, Graham G Giles, Gianluca Severi, Laura Baglietto, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Jonine Figueroa, Jolanta Lissowska, Louise Brinton, Mark S Goldberg, France Labrèche, Martine Dumont, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Hiltrud Brauch, Ute Hamann, Thomas Brüning, The GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Bernardo Bonanni, Peter Devilee, Rob A E M Tollenaar, Caroline Seynaeve, Christi J van Asperen, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Natalia V Bogdanova, Natalia N Antonenkova, Thilo Dörk, Vessela N Kristensen, Hoda Anton-Culver, Susan Slager, Amanda E Toland, Stephen Edge, Florentia Fostira, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Aiko Sueta, Anna H Wu, Chiu-Chen Tseng, David Van Den Berg, Daniel O Stram, Xiao-Ou Shu, Wei Lu, Yu-Tang Gao, Hui Cai, Soo Hwang Teo, Cheng Har Yip, Sze Yee Phuah, Belinda K Cornes, Mikael Hartman, Hui Miao, Wei Yen Lim, Jen-Hwei Sng, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart-Brown, Pornthep Siriwanarangsan, Chen-Yang Shen, Chia-Ni Hsiung, Pei-Ei Wu, Shian-Ling Ding, Suleeporn Sangrajrang, Valerie Gaborieau, Paul Brennan, James McKay, William J Blot, Lisa B Signorello, Qiuyin Cai, Wei Zheng, Sandra Deming-Halverson, Martha Shrubsole, Jirong Long, Jacques Simard, Montse Garcia-Closas, Paul D P Pharoah, Georgia Chenevix-Trench, Alison M Dunning, Javier Benitez & Douglas F Easton
doi:10.1038/ng.2563
Douglas Easton, Per Hall and colleagues report meta-analyses of genome-wide association studies for breast cancer, including 10,052 cases and 12,575 controls, followed by genotyping using the iCOGS array in an additional 52,675 cases and 49,436 controls from studies within the Breast Cancer Association Consortium (BCAC). They identify 41 loci newly associated with susceptibility to breast cancer.

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer   pp362 - 370
Paul D P Pharoah, Ya-Yu Tsai, Susan J Ramus, Catherine M Phelan, Ellen L Goode, Kate Lawrenson, Melissa Buckley, Brooke L Fridley, Jonathan P Tyrer, Howard Shen, Rachel Weber, Rod Karevan, Melissa C Larson, Honglin Song, Daniel C Tessier, François Bacot, Daniel Vincent, Julie M Cunningham, Joe Dennis, Ed Dicks, Australian Cancer Study, Australian Ovarian Cancer Study Group, Katja K Aben, Hoda Anton-Culver, Natalia Antonenkova, Sebastian M Armasu, Laura Baglietto, Elisa V Bandera, Matthias W Beckmann, Michael J Birrer, Greg Bloom, Natalia Bogdanova, James D Brenton, Louise A Brinton, Angela Brooks-Wilson, Robert Brown, Ralf Butzow, Ian Campbell, Michael E Carney, Renato S Carvalho, Jenny Chang-Claude, Y Anne Chen, Zhihua Chen, Wong-Ho Chow, Mine S Cicek, Gerhard Coetzee, Linda S Cook, Daniel W Cramer, Cezary Cybulski, Agnieszka Dansonka-Mieszkowska, Evelyn Despierre, Jennifer A Doherty, Thilo Dörk, Andreas du Bois, Matthias Dürst, Diana Eccles, Robert Edwards, Arif B Ekici, Peter A Fasching, David Fenstermacher, James Flanagan, Yu-Tang Gao, Montserrat Garcia-Closas, Aleksandra Gentry-Maharaj, Graham Giles, Anxhela Gjyshi, Martin Gore, Jacek Gronwald, Qi Guo, Mari K Halle, Philipp Harter, Alexander Hein, Florian Heitz, Peter Hillemanns, Maureen Hoatlin, Estrid Høgdall, Claus K Høgdall, Satoyo Hosono, Anna Jakubowska, Allan Jensen, Kimberly R Kalli, Beth Y Karlan, Linda E Kelemen, Lambertus A Kiemeney, Susanne Krüger Kjaer, Gottfried E Konecny, Camilla Krakstad, Jolanta Kupryjanczyk, Diether Lambrechts, Sandrina Lambrechts, Nhu D Le, Nathan Lee, Janet Lee, Arto Leminen, Boon Kiong Lim, Jolanta Lissowska, Jan Lubiński, Lene Lundvall, Galina Lurie, Leon F A G Massuger, Keitaro Matsuo, Valerie McGuire, John R McLaughlin, Usha Menon, Francesmary Modugno, Kirsten B Moysich, Toru Nakanishi, Steven A Narod, Roberta B Ness, Heli Nevanlinna, Stefan Nickels, Houtan Noushmehr, Kunle Odunsi, Sara Olson, Irene Orlow, James Paul, Tanja Pejovic, Liisa M Pelttari, Jenny Permuth-Wey, Malcolm C Pike, Elizabeth M Poole, Xiaotao Qu, Harvey A Risch, Lorna Rodriguez-Rodriguez, Mary Anne Rossing, Anja Rudolph, Ingo Runnebaum, Iwona K Rzepecka, Helga B Salvesen, Ira Schwaab, Gianluca Severi, Hui Shen, Vijayalakshmi Shridhar, Xiao-Ou Shu, Weiva Sieh, Melissa C Southey, Paul Spellman, Kazuo Tajima, Soo-Hwang Teo, Kathryn L Terry, Pamela J Thompson, Agnieszka Timorek, Shelley S Tworoger, Anne M van Altena, David van den Berg, Ignace Vergote, Robert A Vierkant, Allison F Vitonis, Shan Wang-Gohrke, Nicolas Wentzensen, Alice S Whittemore, Elisabeth Wik, Boris Winterhoff, Yin Ling Woo, Anna H Wu, Hannah P Yang, Wei Zheng, Argyrios Ziogas, Famida Zulkifli, Marc T Goodman, Per Hall, Douglas F Easton, Celeste L Pearce, Andrew Berchuck, Georgia Chenevix-Trench, Edwin Iversen, Alvaro N A Monteiro, Simon A Gayther, Joellen M Schildkraut & Thomas A Sellers
doi:10.1038/ng.2564
Paul Pharoah, Joellen Schildkraut, Thomas Sellers and colleagues report a meta-analysis of genome-wide association studies for epithelial ovarian cancer and genotyping using the iCOGS array in 18,174 cases and 26,134 controls from 43 studies from the Ovarian Cancer Association Consortium. They identify three new ovarian cancer susceptibility loci, including one specific to the serous subtype, and their integrated molecular analysis of genes and regulatory regions at these loci suggests disease mechanisms.

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer   pp371 - 384
Stig E Bojesen, Karen A Pooley, Sharon E Johnatty, Jonathan Beesley, Kyriaki Michailidou, Jonathan P Tyrer, Stacey L Edwards, Hilda A Pickett, Howard C Shen, Chanel E Smart, Kristine M Hillman, Phuong L Mai, Kate Lawrenson, Michael D Stutz, Yi Lu, Rod Karevan, Nicholas Woods, Rebecca L Johnston, Juliet D French, Xiaoqing Chen, Maren Weischer, Sune F Nielsen, Melanie J Maranian, Maya Ghoussaini, Shahana Ahmed, Caroline Baynes, Manjeet K Bolla, Qin Wang, Joe Dennis, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Sue Healey, Michael Lush, Daniel C Tessier, Daniel Vincent, Françis Bacot, Australian Cancer Study, Australian Ovarian Cancer Study, Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Gene Environment Interaction and Breast Cancer (GENICA), Swedish Breast Cancer Study (SWE-BRCA), The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE), Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO), Ignace Vergote, Sandrina Lambrechts, Evelyn Despierre, Harvey A Risch, Anna González-Neira, Mary Anne Rossing, Guillermo Pita, Jennifer A Doherty, Nuria Álvarez, Melissa C Larson, Brooke L Fridley, Nils Schoof, Jenny Chang-Claude, Mine S Cicek, Julian Peto, Kimberly R Kalli, Annegien Broeks, Sebastian M Armasu, Marjanka K Schmidt, Linde M Braaf, Boris Winterhoff, Heli Nevanlinna, Gottfried E Konecny, Diether Lambrechts, Lisa Rogmann, Pascal Guénel, Attila Teoman, Roger L Milne, Joaquin J Garcia, Angela Cox, Vijayalakshmi Shridhar, Barbara Burwinkel, Frederik Marme, Rebecca Hein, Elinor J Sawyer, Christopher A Haiman, Shan Wang-Gohrke, Irene L Andrulis, Kirsten B Moysich, John L Hopper, Kunle Odunsi, Annika Lindblom, Graham G Giles, Hermann Brenner, Jacques Simard, Galina Lurie, Peter A Fasching, Michael E Carney, Paolo Radice, Lynne R Wilkens, Anthony Swerdlow, Marc T Goodman, Hiltrud Brauch, Montserrat Garcia-Closas, Peter Hillemanns, Robert Winqvist, Matthias Dürst, Peter Devilee, Ingo Runnebaum, Anna Jakubowska, Jan Lubinski, Arto Mannermaa, Ralf Butzow, Natalia V Bogdanova, Thilo Dörk, Liisa M Pelttari, Wei Zheng, Arto Leminen, Hoda Anton-Culver, Clareann H Bunker, Vessela Kristensen, Roberta B Ness, Kenneth Muir, Robert Edwards, Alfons Meindl, Florian Heitz, Keitaro Matsuo, Andreas du Bois, Anna H Wu, Philipp Harter, Soo-Hwang Teo, Ira Schwaab, Xiao-Ou Shu, William Blot, Satoyo Hosono, Daehee Kang, Toru Nakanishi, Mikael Hartman, Yasushi Yatabe, Ute Hamann, Beth Y Karlan, Suleeporn Sangrajrang, Susanne Krüger Kjaer, Valerie Gaborieau, Allan Jensen, Diana Eccles, Estrid Høgdall, Chen-Yang Shen, Judith Brown, Yin Ling Woo, Mitul Shah, Mat Adenan Noor Azmi, Robert Luben, Siti Zawiah Omar, Kamila Czene, Robert A Vierkant, Børge G Nordestgaard, Henrik Flyger, Celine Vachon, Janet E Olson, Xianshu Wang, Douglas A Levine, Anja Rudolph, Rachel Palmieri Weber, Dieter Flesch-Janys, Edwin Iversen, Stefan Nickels, Joellen M Schildkraut, Isabel Dos Santos Silva, Daniel W Cramer, Lorna Gibson, Kathryn L Terry, Olivia Fletcher, Allison F Vitonis, C Ellen van der Schoot, Elizabeth M Poole, Frans B L Hogervorst, Shelley S Tworoger, Jianjun Liu, Elisa V Bandera, Jingmei Li, Sara H Olson, Keith Humphreys, Irene Orlow, Carl Blomqvist, Lorna Rodriguez-Rodriguez, Kristiina Aittomäki, Helga B Salvesen, Taru A Muranen, Elisabeth Wik, Barbara Brouwers, Camilla Krakstad, Els Wauters, Mari K Halle, Hans Wildiers, Lambertus A Kiemeney, Claire Mulot, Katja K Aben, Pierre Laurent-Puig, Anne Mvan Altena, Thérèse Truong, Leon F A G Massuger, Javier Benitez, Tanja Pejovic, Jose Ignacio Arias Perez, Maureen Hoatlin, M Pilar Zamora, Linda S Cook, Sabapathy P Balasubramanian, Linda E Kelemen, Andreas Schneeweiss, Nhu D Le, Christof Sohn, Angela Brooks-Wilson, Ian Tomlinson, Michael J Kerin, Nicola Miller, Cezary Cybulski, Brian E Henderson, Janusz Menkiszak, Fredrick Schumacher, Nicolas Wentzensen, Loic Le Marchand, Hannah P Yang, Anna Marie Mulligan, Gord Glendon, Svend Aage Engelholm, Julia A Knight, Claus K Høgdall, Carmel Apicella, Martin Gore, Helen Tsimiklis, Honglin Song, Melissa C Southey, Agnes Jager, Ans M Wvan den Ouweland, Robert Brown, John W M Martens, James M Flanagan, Mieke Kriege, James Paul, Sara Margolin, Nadeem Siddiqui, Gianluca Severi, Alice S Whittemore, Laura Baglietto, Valerie McGuire, Christa Stegmaier, Weiva Sieh, Heiko Müller, Volker Arndt, France Labrèche, Yu-Tang Gao, Mark S Goldberg, Gong Yang, Martine Dumont, John R McLaughlin, Arndt Hartmann, Arif B Ekici, Matthias W Beckmann, Catherine M Phelan, Michael P Lux, Jenny Permuth-Wey, Bernard Peissel, Thomas A Sellers, Filomena Ficarazzi, Monica Barile, Argyrios Ziogas, Alan Ashworth, Aleksandra Gentry-Maharaj, Michael Jones, Susan J Ramus, Nick Orr, Usha Menon, Celeste L Pearce, Thomas Brüning, Malcolm C Pike, Yon-Dschun Ko, Jolanta Lissowska, Jonine Figueroa, Jolanta Kupryjanczyk, Stephen J Chanock, Agnieszka Dansonka-Mieszkowska, Arja Jukkola-Vuorinen, Iwona K Rzepecka, Katri Pylkäs, Mariusz Bidzinski, Saila Kauppila, Antoinette Hollestelle, Caroline Seynaeve, Rob A E M Tollenaar, Katarzyna Durda, Katarzyna Jaworska, Jaana M Hartikainen, Veli-Matti Kosma, Vesa Kataja, Natalia N Antonenkova, Jirong Long, Martha Shrubsole, Sandra Deming-Halverson, Artitaya Lophatananon, Pornthep Siriwanarangsan, Sarah Stewart-Brown, Nina Ditsch, Peter Lichtner, Rita K Schmutzler, Hidemi Ito, Hiroji Iwata, Kazuo Tajima, Chiu-Chen Tseng, Daniel O Stram, David van den Berg, Cheng Har Yip, M Kamran Ikram, Yew-Ching Teh, Hui Cai, Wei Lu, Lisa B Signorello, Qiuyin Cai, Dong-Young Noh, Keun-Young Yoo, Hui Miao, Philip Tsau-Choong Iau, Yik Ying Teo, James McKay, Charles Shapiro, Foluso Ademuyiwa, George Fountzilas, Chia-Ni Hsiung, Jyh-Cherng Yu, Ming-Feng Hou, Catherine S Healey, Craig Luccarini, Susan Peock, Dominique Stoppa-Lyonnet, Paolo Peterlongo, Timothy R Rebbeck, Marion Piedmonte, Christian F Singer, Eitan Friedman, Mads Thomassen, Kenneth Offit, Thomas V O Hansen, Susan L Neuhausen, Csilla I Szabo, Ignacio Blanco, Judy Garber, Steven A Narod, Jeffrey N Weitzel, Marco Montagna, Edith Olah, Andrew K Godwin, Drakoulis Yannoukakos, David E Goldgar, Trinidad Caldes, Evgeny N Imyanitov, Laima Tihomirova, Banu K Arun, Ian Campbell, Arjen R Mensenkamp, Christi J van Asperen, Kees E P van Roozendaal, Hanne Meijers-Heijboer, J Margriet Collée, Jan C Oosterwijk, Maartje J Hooning, Matti A Rookus, Rob B van der Luijt, Theo A Mvan Os, D Gareth Evans, Debra Frost, Elena Fineberg, Julian Barwell, Lisa Walker, M John Kennedy, Radka Platte, Rosemarie Davidson, Steve D Ellis, Trevor Cole, Brigitte Bressac-de Paillerets, Bruno Buecher, Francesca Damiola, Laurence Faivre, Marc Frenay, Olga M Sinilnikova, Olivier Caron, Sophie Giraud, Sylvie Mazoyer, Valérie Bonadona, Virginie Caux-Moncoutier, Aleksandra Toloczko-Grabarek, Jacek Gronwald, Tomasz Byrski, Amanda B Spurdle, Bernardo Bonanni, Daniela Zaffaroni, Giuseppe Giannini, Loris Bernard, Riccardo Dolcetti, Siranoush Manoukian, Norbert Arnold, Christoph Engel, Helmut Deissler, Kerstin Rhiem, Dieter Niederacher, Hansjoerg Plendl, Christian Sutter, Barbara Wappenschmidt, Åke Borg, Beatrice Melin, Johanna Rantala, Maria Soller, Katherine L Nathanson, Susan M Domchek, Gustavo C Rodriguez, Ritu Salani, Daphne Gschwantler Kaulich, Muy-Kheng Tea, Shani Shimon Paluch, Yael Laitman, Anne-Bine Skytte, Torben A Kruse, Uffe Birk Jensen, Mark Robson, Anne-Marie Gerdes, Bent Ejlertsen, Lenka Foretova, Sharon A Savage, Jenny Lester, Penny Soucy, Karoline B Kuchenbaecker, Curtis Olswold, Julie M Cunningham, Susan Slager, Vernon S Pankratz, Ed Dicks, Sunil R Lakhani, Fergus J Couch, Per Hall, Alvaro N A Monteiro, Simon A Gayther, Paul D P Pharoah, Roger R Reddel, Ellen L Goode, Mark H Greene, Douglas F Easton, Andrew Berchuck, Antonis C Antoniou, Georgia Chenevix-Trench & Alison M Dunning
doi:10.1038/ng.2566
Stig Bojesen, Georgia Chenevix-Trench, Alison Dunning and colleagues report common variants at the TERT-CLPTM1L locus associated with mean telomere length measured in whole blood. They also identify associations at this locus to breast or ovarian cancer susceptibility and report functional studies in breast and ovarian cancer tissue and cell lines.

Letters

Top

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array   pp385 - 391
Rosalind A Eeles, Ali Amin Al Olama, Sara Benlloch, Edward J Saunders, Daniel A Leongamornlert, Malgorzata Tymrakiewicz, Maya Ghoussaini, Craig Luccarini, Joe Dennis, Sarah Jugurnauth-Little, Tokhir Dadaev, David E Neal, Freddie C Hamdy, Jenny L Donovan, Ken Muir, Graham G Giles, Gianluca Severi, Fredrik Wiklund, Henrik Gronberg, Christopher A Haiman, Fredrick Schumacher, Brian E Henderson, Loic Le Marchand, Sara Lindstrom, Peter Kraft, David J Hunter, Susan Gapstur, Stephen J Chanock, Sonja I Berndt, Demetrius Albanes, Gerald Andriole, Johanna Schleutker, Maren Weischer, Federico Canzian, Elio Riboli, Tim J Key, Ruth C Travis, Daniele Campa, Sue A Ingles, Esther M John, Richard B Hayes, Paul D P Pharoah, Nora Pashayan, Kay-Tee Khaw, Janet L Stanford, Elaine A Ostrander, Lisa B Signorello, Stephen N Thibodeau, Dan Schaid, Christiane Maier, Walther Vogel, Adam S Kibel, Cezary Cybulski, Jan Lubinski, Lisa Cannon-Albright, Hermann Brenner, Jong Y Park, Radka Kaneva, Jyotsna Batra, Amanda B Spurdle, Judith A Clements, Manuel R Teixeira, Ed Dicks, Andrew Lee, Alison M Dunning, Caroline Baynes, Don Conroy, Melanie J Maranian, Shahana Ahmed, Koveela Govindasami, Michelle Guy, Rosemary A Wilkinson, Emma J Sawyer, Angela Morgan, David P Dearnaley, Alan Horwich, Robert A Huddart, Vincent S Khoo, Christopher C Parker, Nicholas J Van As, Christopher J Woodhouse, Alan Thompson, Tim Dudderidge, Chris Ogden, Colin S Cooper, Artitaya Lophatananon, Angela Cox, Melissa C Southey, John L Hopper, Dallas R English, Markus Aly, Jan Adolfsson, Jiangfeng Xu, Siqun L Zheng, Meredith Yeager, Rudolf Kaaks, W Ryan Diver, Mia M Gaudet, Mariana C Stern, Roman Corral, Amit D Joshi, Ahva Shahabi, Tiina Wahlfors, Teuvo L J Tammela, Anssi Auvinen, Jarmo Virtamo, Peter Klarskov, Børge G Nordestgaard, M Andreas Røder, Sune F Nielsen, Stig E Bojesen, Afshan Siddiq, Liesel M FitzGerald, Suzanne Kolb, Erika M Kwon, Danielle M Karyadi, William J Blot, Wei Zheng, Qiuyin Cai, Shannon K McDonnell, Antje E Rinckleb, Bettina Drake, Graham Colditz, Dominika Wokolorczyk, Robert A Stephenson, Craig Teerlink, Heiko Muller, Dietrich Rothenbacher, Thomas A Sellers, Hui-Yi Lin, Chavdar Slavov, Vanio Mitev, Felicity Lose, Srilakshmi Srinivasan, Sofia Maia, Paula Paulo, Ethan Lange, Kathleen A Cooney, Antonis C Antoniou, Daniel Vincent, François Bacot, Daniel C Tessier, The COGS–Cancer Research UK GWAS–ELLIPSE (part of GAME-ON) Initiative, The Australian Prostate Cancer Bioresource, The UK Genetic Prostate Cancer Study Collaborators/British Association of Urological Surgeons' Section of Oncology, The UK ProtecT (Prostate testing for cancer and Treatment) Study Collaborators, The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Zsofia Kote-Jarai & Douglas F Easton
doi:10.1038/ng.2560
Rosalind Eeles and colleagues report meta-analysis of genome-wide association studies for prostate cancer and genotyping on the custom iCOGS array in 25,074 cases and 24,272 controls from 32 studies available in the PRACTICAL Consortium. They identify 23 new prostate cancer susceptibility loci, 20 of which are associated with both aggressive and non-aggressive disease.

Genome-wide association studies identify four ER negative-specific breast cancer risk loci   pp392 - 398
Montserrat Garcia-Closas, Fergus J Couch, Sara Lindstrom, Kyriaki Michailidou, Marjanka K Schmidt, Mark N Brook, Nick Orr, Suhn Kyong Rhie, Elio Riboli, Heather S Feigelson, Loic Le Marchand, Julie E Buring, Diana Eccles, Penelope Miron, Peter A Fasching, Hiltrud Brauch, Jenny Chang-Claude, Jane Carpenter, Andrew K Godwin, Heli Nevanlinna, Graham G Giles, Angela Cox, John L Hopper, Manjeet K Bolla, Qin Wang, Joe Dennis, Ed Dicks, Will J Howat, Nils Schoof, Stig E Bojesen, Diether Lambrechts, Annegien Broeks, Irene L Andrulis, Pascal Guénel, Barbara Burwinkel, Elinor J Sawyer, Antoinette Hollestelle, Olivia Fletcher, Robert Winqvist, Hermann Brenner, Arto Mannermaa, Ute Hamann, Alfons Meindl, Annika Lindblom, Wei Zheng, Peter Devillee, Mark S Goldberg, Jan Lubinski, Vessela Kristensen, Anthony Swerdlow, Hoda Anton-Culver, Thilo Dörk, Kenneth Muir, Keitaro Matsuo, Anna H Wu, Paolo Radice, Soo Hwang Teo, Xiao-Ou Shu, William Blot, Daehee Kang, Mikael Hartman, Suleeporn Sangrajrang, Chen-Yang Shen, Melissa C Southey, Daniel J Park, Fleur Hammet, Jennifer Stone, Laura J Van't Veer, Emiel J Rutgers, Artitaya Lophatananon, Sarah Stewart-Brown, Pornthep Siriwanarangsan, Julian Peto, Michael G Schrauder, Arif B Ekici, Matthias W Beckmann, Isabel dos Santos Silva, Nichola Johnson, Helen Warren, Ian Tomlinson, Michael J Kerin, Nicola Miller, Federick Marme, Andreas Schneeweiss, Christof Sohn, Therese Truong, Pierre Laurent-Puig, Pierre Kerbrat, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Roger L Milne, Jose Ignacio Arias Perez, Primitiva Menéndez, Heiko Müller, Volker Arndt, Christa Stegmaier, Peter Lichtner, Magdalena Lochmann, Christina Justenhoven, Yon-Dschun Ko, The Gene ENvironmental Interaction and breast CAncer (GENICA) Network, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Dario Greco, Tuomas Heikkinen, Hidemi Ito, Hiroji Iwata, Yasushi Yatabe, Natalia N Antonenkova, Sara Margolin, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Rosemary Balleine, kConFab Investigators, Chiu-Chen Tseng, David Van Den Berg, Daniel O Stram, Patrick Neven, Anne-Sophie Dieudonné, Karin Leunen, Anja Rudolph, Stefan Nickels, Dieter Flesch-Janys, Paolo Peterlongo, Bernard Peissel, Loris Bernard, Janet E Olson, Xianshu Wang, Kristen Stevens, Gianluca Severi, Laura Baglietto, Catriona McLean, Gerhard A Coetzee, Ye Feng, Brian E Henderson, Fredrick Schumacher, Natalia V Bogdanova, France Labrèche, Martine Dumont, Cheng Har Yip, Nur Aishah Mohd Taib, Ching-Yu Cheng, Martha Shrubsole, Jirong Long, Katri Pylkäs, Arja Jukkola-Vuorinen, Saila Kauppila, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Robertus A E M Tollenaar, Caroline M Seynaeve, Mieke Kriege, Maartje J Hooning, Ans M W van den Ouweland, Carolien H M van Deurzen, Wei Lu, Yu-Tang Gao, Hui Cai, Sabapathy P Balasubramanian, Simon S Cross, Malcolm W R Reed, Lisa Signorello, Qiuyin Cai, Mitul Shah, Hui Miao, Ching Wan Chan, Kee Seng Chia, Anna Jakubowska, Katarzyna Jaworska, Katarzyna Durda, Chia-Ni Hsiung, Pei-Ei Wu, Jyh-Cherng Yu, Alan Ashworth, Michael Jones, Daniel C Tessier, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Daniel Vincent, Francois Bacot, Christine B Ambrosone, Elisa V Bandera, Esther M John, Gary K Chen, Jennifer J Hu, Jorge L Rodriguez-Gil, Leslie Bernstein, Michael F Press, Regina G Ziegler, Robert M Millikan, Sandra L Deming-Halverson, Sarah Nyante, Sue A Ingles, Quinten Waisfisz, Helen Tsimiklis, Enes Makalic, Daniel Schmidt, Minh Bui, Lorna Gibson, Bertram Müller-Myhsok, Rita K Schmutzler, Rebecca Hein, Norbert Dahmen, Lars Beckmann, Kirsimari Aaltonen, Kamila Czene, Astrid Irwanto, Jianjun Liu, Clare Turnbull, Familial Breast Cancer Study (FBCS), Nazneen Rahman, Hanne Meijers-Heijboer, Andre G Uitterlinden, Fernando Rivadeneira, Australian Breast Cancer Tissue Bank (ABCTB) Investigators, Curtis Olswold, Susan Slager, Robert Pilarski, Foluso Ademuyiwa, Irene Konstantopoulou, Nicholas G Martin, Grant W Montgomery, Dennis J Slamon, Claudia Rauh, Michael P Lux, Sebastian M Jud, Thomas Bruning, JoEllen Weaver, Priyanka Sharma, Harsh Pathak, Will Tapper, Sue Gerty, Lorraine Durcan, Dimitrios Trichopoulos, Rosario Tumino, Petra H Peeters, Rudolf Kaaks, Daniele Campa, Federico Canzian, Elisabete Weiderpass, Mattias Johansson, Kay-Tee Khaw, Ruth Travis, Françoise Clavel-Chapelon, Laurence N Kolonel, Constance Chen, Andy Beck, Susan E Hankinson, Christine D Berg, Robert N Hoover, Jolanta Lissowska, Jonine D Figueroa, Daniel I Chasman, Mia M Gaudet, W Ryan Diver, Walter C Willett, David J Hunter, Jacques Simard, Javier Benitez, Alison M Dunning, Mark E Sherman, Georgia Chenevix-Trench, Stephen J Chanock, Per Hall, Paul D P Pharoah, Celine Vachon, Douglas F Easton, Christopher A Haiman & Peter Kraft
doi:10.1038/ng.2561
Montserrat Garcia-Closas and colleagues report a meta-analysis of three genome-wide association studies for estrogen receptor (ER)-negative breast cancer, including 4,193 ER-negative breast cancer cases and 35,194 controls, with replication using the iCOGS custom genotyping array in 40 studies, including 6,514 cases and 41,455 controls. They identify four loci associated with ER-negative but not ER-positive breast cancer.

Analysis

Top

Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies   pp400 - 405
Nilanjan Chatterjee, Bill Wheeler, Joshua Sampson, Patricia Hartge, Stephen J Chanock and Ju-Hyun Park
doi:10.1038/ng.2579
Nilanjan Chatterjee and colleagues report a theoretical framework to assess the predictive performance of polygenic models for risk prediction, based on analysis of genome-wide association study data sets. Across a range of common diseases and quantitative traits, they examine how predictive performance depends on the sample size, the total heritability and the underlying effect-size distributions.

Articles

Top

Using population admixture to help complete maps of the human genome   pp406 - 414
Giulio Genovese, Robert E Handsaker, Heng Li, Nicolas Altemose, Amelia M Lindgren, Kimberly Chambert, Bogdan Pasaniuc, Alkes L Price, David Reich, Cynthia C Morton, Martin R Pollak, James G Wilson and Steven A McCarroll
doi:10.1038/ng.2565
Steven McCarroll, Giulio Genovese and colleagues report a new approach to help complete maps of the human genome reference sequence. They use a population-based admixture mapping approach and report the successful mapping of ~4 Mb of unplaced human euchromatic sequences.

Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution OPEN   pp415 - 421
Jeramiah J Smith, Shigehiro Kuraku, Carson Holt, Tatjana Sauka-Spengler, Ning Jiang, Michael S Campbell, Mark D Yandell, Tereza Manousaki, Axel Meyer, Ona E Bloom, Jennifer R Morgan, Joseph D Buxbaum, Ravi Sachidanandam, Carrie Sims, Alexander S Garruss, Malcolm Cook, Robb Krumlauf, Leanne M Wiedemann, Stacia A Sower, Wayne A Decatur, Jeffrey A Hall, Chris T Amemiya, Nil R Saha, Katherine M Buckley, Jonathan P Rast, Sabyasachi Das, Masayuki Hirano, Nathanael McCurley, Peng Guo, Nicolas Rohner, Clifford J Tabin, Paul Piccinelli, Greg Elgar, Magali Ruffier, Bronwen L Aken, Stephen M J Searle, Matthieu Muffato, Miguel Pignatelli, Javier Herrero, Matthew Jones, C Titus Brown, Yu-Wen Chung-Davidson, Kaben G Nanlohy, Scot V Libants, Chu-Yin Yeh, David W McCauley, James A Langeland, Zeev Pancer, Bernd Fritzsch, Pieter J de Jong, Baoli Zhu, Lucinda L Fulton, Brenda Theising, Paul Flicek, Marianne E Bronner, Wesley C Warren, Sandra W Clifton, Richard K Wilson & Weiming Li
doi:10.1038/ng.2568
Jeramiah Smith, Weiming Li and colleagues report the whole-genome sequence of the sea lamprey, Petromyzon marinus, representing a vertebrate lineage diverged from humans ~500 million years ago. Their analyses define key evolutionary events in vertebrate lineages and provide evidence for two whole-genome duplication events occurring before the divergence of the ancestral lamprey and jawed vertebrate (gnathostome) lineages.

Letters

Top

Identification of seven loci affecting mean telomere length and their association with disease   pp422 - 427
Veryan Codd, Christopher P Nelson, Eva Albrecht, Massimo Mangino, Joris Deelen, Jessica L Buxton, Jouke Jan Hottenga, Krista Fischer, Tõnu Esko, Ida Surakka, Linda Broer, Dale R Nyholt, Irene Mateo Leach, Perttu Salo, Sara Hägg, Mary K Matthews, Jutta Palmen, Giuseppe D Norata, Paul F O'Reilly, Danish Saleheen, Najaf Amin, Anthony J Balmforth, Marian Beekman, Rudolf A de Boer, Stefan Böhringer, Peter S Braund, Paul R Burton, Anton J Mde Craen, Matthew Denniff, Yanbin Dong, Konstantinos Douroudis, Elena Dubinina, Johan G Eriksson, Katia Garlaschelli, Dehuang Guo, Anna-Liisa Hartikainen, Anjali K Henders, Jeanine J Houwing-Duistermaat, Laura Kananen, Lennart C Karssen, Johannes Kettunen, Norman Klopp, Vasiliki Lagou, Elisabeth M van Leeuwen, Pamela A Madden, Reedik Mägi, Patrik K E Magnusson, Satu Männistö, Mark I McCarthy, Sarah E Medland, Evelin Mihailov, Grant W Montgomery, Ben A Oostra, Aarno Palotie, Annette Peters, Helen Pollard, Anneli Pouta, Inga Prokopenko, Samuli Ripatti, Veikko Salomaa, H Eka D Suchiman, Ana M Valdes, Niek Verweij, Ana Viñuela, Xiaoling Wang, H-Erich Wichmann, Elisabeth Widen, Gonneke Willemsen, Margaret J Wright, Kai Xia, Xiangjun Xiao, Dirk J van Veldhuisen, Alberico L Catapano, Martin D Tobin, Alistair S Hall, Alexandra I F Blakemore, Wiek H van Gilst, Haidong Zhu, CARDIoGRAM consortium, Jeanette Erdmann, Muredach P Reilly, Sekar Kathiresan, Heribert Schunkert, Philippa J Talmud, Nancy L Pedersen, Markus Perola, Willem Ouwehand, Jaakko Kaprio, Nicholas G Martin, Cornelia M van Duijn, Iiris Hovatta, Christian Gieger, Andres Metspalu, Dorret I Boomsma, Marjo-Riitta Jarvelin, P Eline Slagboom, John R Thompson, Tim D Spector, Pim van der Harst & Nilesh J Samani
doi:10.1038/ng.2528
Nilesh Samani and colleagues report a meta-analysis of genome-wide association studies for mean leukocyte telomere length in 37,684 individuals, with replication of selected variants in an additional 10,739 individuals. They identify seven loci associated with mean telomere length, including two that have been associated with several cancers, and also find that alleles associated with shorter telomere length were associated with a higher risk of coronary artery disease.

A variant in FTO shows association with melanoma risk not due to BMI   pp428 - 432
Mark M Iles, Matthew H Law, Simon N Stacey, Jiali Han, Shenying Fang, Ruth Pfeiffer, Mark Harland, Stuart MacGregor, John C Taylor, Katja K Aben, Lars A Akslen, Marie-Françoise Avril, Esther Azizi, Bert Bakker, Kristrun R Benediktsdottir, Wilma Bergman, Giovanna Bianchi Scarrà, Kevin M Brown, Donato Calista, Valérie Chaudru, Maria Concetta Fargnoli, Anne E Cust, Florence Demenais, Anne C de Waal, Tadeusz Dębniak, David E Elder, Eitan Friedman, Pilar Galan, Paola Ghiorzo, Elizabeth M Gillanders, Alisa M Goldstein, Nelleke A Gruis, Johan Hansson, Per Helsing, Marko Hočevar, Veronica Höiom, John L Hopper, Christian Ingvar, Marjolein Janssen, Mark A Jenkins, Peter A Kanetsky, Lambertus A Kiemeney, Julie Lang, G Mark Lathrop, Sancy Leachman, Jeffrey E Lee, Jan Lubiński, Rona M Mackie, Graham J Mann, Nicholas G Martin, Jose I Mayordomo, Anders Molven, Suzanne Mulder, Eduardo Nagore, Srdjan Novaković, Ichiro Okamoto, Jon H Olafsson, Håkan Olsson, Hubert Pehamberger, Ketty Peris, Maria Pilar Grasa, Dolores Planelles, Susana Puig, Joan Anton Puig-Butille, Q-MEGA and AMFS Investigators, Juliette Randerson-Moor, Celia Requena, Licia Rivoltini, Monica Rodolfo, Mario Santinami, Bardur Sigurgeirsson, Helen Snowden, Fengju Song, Patrick Sulem, Kristin Thorisdottir, Rainer Tuominen, Patricia Van Belle, Nienke van der Stoep, Michelle M van Rossum, Qingyi Wei, Judith Wendt, Diana Zelenika, Mingfeng Zhang, Maria Teresa Landi, Gudmar Thorleifsson, D Timothy Bishop, Christopher I Amos, Nicholas K Hayward, Kari Stefansson, Julia A Newton Bishop & Jennifer H Barrett for the GenoMEL Consortium
doi:10.1038/ng.2571
The GenoMEL consortium reports a genome-wide association study of melanoma based on imputation and identifies a variant in the FTO gene associated with susceptibility to melanoma.

Seven new loci associated with age-related macular degeneration   pp433 - 439
Lars G Fritsche, Wei Chen, Matthew Schu, Brian L Yaspan, Yi Yu, Gudmar Thorleifsson, Donald J Zack, Satoshi Arakawa, Valentina Cipriani, Stephan Ripke, Robert P Igo Jr, Gabriëlle H S Buitendijk, Xueling Sim, Daniel E Weeks, Robyn H Guymer, Joanna E Merriam, Peter J Francis, Gregory Hannum, Anita Agarwal, Ana Maria Armbrecht, Isabelle Audo, Tin Aung, Gaetano R Barile, Mustapha Benchaboune, Alan C Bird, Paul N Bishop, Kari E Branham, Matthew Brooks, Alexander J Brucker, William H Cade, Melinda S Cain, Peter A Campochiaro, Chi-Chao Chan, Ching-Yu Cheng, Emily Y Chew, Kimberly A Chin, Itay Chowers, David G Clayton, Radu Cojocaru, Yvette P Conley, Belinda K Cornes, Mark J Daly, Baljean Dhillon, Albert O Edwards, Evangelos Evangelou, Jesen Fagerness, Henry A Ferreyra, James S Friedman, Asbjorg Geirsdottir, Ronnie J George, Christian Gieger, Neel Gupta, Stephanie A Hagstrom, Simon P Harding, Christos Haritoglou, John R Heckenlively, Frank G Holz, Guy Hughes, John P A Ioannidis, Tatsuro Ishibashi, Peronne Joseph, Gyungah Jun, Yoichiro Kamatani, Nicholas Katsanis, Claudia N Keilhauer, Jane C Khan, Ivana K Kim, Yutaka Kiyohara, Barbara E K Klein, Ronald Klein, Jaclyn L Kovach, Igor Kozak, Clara J Lee, Kristine E Lee, Peter Lichtner, Andrew J Lotery, Thomas Meitinger, Paul Mitchell, Saddek Mohand-Saïd, Anthony T Moore, Denise J Morgan, Margaux A Morrison, Chelsea E Myers, Adam C Naj, Yusuke Nakamura, Yukinori Okada, Anton Orlin, M Carolina Ortube, Mohammad I Othman, Chris Pappas, Kyu Hyung Park, Gayle J T Pauer, Neal S Peachey, Olivier Poch, Rinki Ratna Priya, Robyn Reynolds, Andrea J Richardson, Raymond Ripp, Guenther Rudolph, Euijung Ryu, José-Alain Sahel, Debra A Schaumberg, Hendrik P N Scholl, Stephen G Schwartz, William K Scott, Humma Shahid, Haraldur Sigurdsson, Giuliana Silvestri, Theru A Sivakumaran, R Theodore Smith, Lucia Sobrin, Eric H Souied, Dwight E Stambolian, Hreinn Stefansson, Gwen M Sturgill-Short, Atsushi Takahashi, Nirubol Tosakulwong, Barbara J Truitt, Evangelia E Tsironi, André G Uitterlinden, Cornelia M van Duijn, Lingam Vijaya, Johannes R Vingerling, Eranga N Vithana, Andrew R Webster, H-Erich Wichmann, Thomas W Winkler, Tien Y Wong, Alan F Wright, Diana Zelenika, Ming Zhang, Ling Zhao, Kang Zhang, Michael L Klein, Gregory S Hageman, G Mark Lathrop, Kari Stefansson, Rando Allikmets, Paul N Baird, Michael B Gorin, Jie Jin Wang, Caroline C W Klaver, Johanna M Seddon, Margaret A Pericak-Vance, Sudha K Iyengar, John R W Yates, Anand Swaroop, Bernhard H F Weber, Michiaki Kubo, Margaret M DeAngelis, Thierry Léveillard, Unnur Thorsteinsdottir, Jonathan L Haines, Lindsay A Farrer, Iris M Heid & Gonçalo R Abecasis for The AMD Gene Consortium
doi:10.1038/ng.2578
Gonçalo Abecasis and colleagues report a large-scale meta-analysis of genome-wide association studies for age-related macular degeneration (AMD), including over 17,100 advanced cases and 60,000 controls. They identify seven loci newly associated with AMD and report pathway analysis that shows enrichment in the complement system and atherosclerosis signaling.

Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension   pp440 - 444
Felix Beuschlein, Sheerazed Boulkroun, Andrea Osswald, Thomas Wieland, Hang N Nielsen, Urs D Lichtenauer, David Penton, Vivien R Schack, Laurence Amar, Evelyn Fischer, Anett Walther, Philipp Tauber, Thomas Schwarzmayr, Susanne Diener, Elisabeth Graf, Bruno Allolio, Benoit Samson-Couterie, Arndt Benecke, Marcus Quinkler, Francesco Fallo, Pierre-Francois Plouin, Franco Mantero, Thomas Meitinger, Paolo Mulatero, Xavier Jeunemaitre, Richard Warth, Bente Vilsen, Maria-Christina Zennaro, Tim M Strom & Martin Reincke
doi:10.1038/ng.2550
Felix Beuschlein, Martin Reincke and colleagues identify recurrent somatic mutations in ATP1A1 and ATP2B3 in aldosterone-producing adenomas with wild-type KCNJ5. The ATP1A1 and ATP2B3 mutations alter conserved residues and lead to impaired sodium, potassium and calcium ion homeostasis.

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood   pp445 - 449
Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu, Hirofumi Kodera, Satoko Kumada, Kenji Sugai, Emi Kasai-Yoshida, Noriko Sawaura, Hiroya Nishida, Ai Hoshino, Fukiko Ryujin, Seiichiro Yoshioka, Kiyomi Nishiyama, Yukiko Kondo, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirokazu Arakawa, Mitsuhiro Kato, Noboru Mizushima & Naomichi Matsumoto
doi:10.1038/ng.2562
Hirotomo Saitsu, Noboru Mizushima, Naomichi Matsumoto and colleagues report the identification of de novo mutations in WDR45 that cause static encephalopathy of childhood with neurodegeneration in adulthood. WDR45 encodes a homolog of the yeast autophagy protein Atg18.

Sequencing ancient calcified dental plaque shows changes in oral microbiota with dietary shifts of the Neolithic and Industrial revolutions   pp450 - 455
Christina J Adler, Keith Dobney, Laura S Weyrich, John Kaidonis, Alan W Walker, Wolfgang Haak, Corey J A Bradshaw, Grant Townsend, Arkadiusz Sołtysiak, Kurt W Alt, Julian Parkhill & Alan Cooper
doi:10.1038/ng.2536
Alan Cooper and colleagues investigated the prokaryotic flora of dental calculus from 34 human skeletons spanning several thousand years of European populations, from Mesolithic hunter-gatherers, via Neolithic and medieval agriculturalists, to modern industrial individuals. Cariogenic bacteria became more abundant relatively recently with the Industrial Revolution.

The draft genome of the fast-growing non-timber forest species moso bamboo (Phyllostachys heterocycla) OPEN   pp456 - 461
Zhenhua Peng, Ying Lu, Lubin Li, Qiang Zhao, Qi Feng, Zhimin Gao, Hengyun Lu, Tao Hu, Na Yao, Kunyan Liu, Yan Li, Danlin Fan, Yunli Guo, Wenjun Li, Yiqi Lu, Qijun Weng, CongCong Zhou, Lei Zhang, Tao Huang, Yan Zhao, Chuanrang Zhu, Xinge Liu, Xuewen Yang, Tao Wang, Kun Miao, Caiyun Zhuang, Xiaolu Cao, Wenli Tang, Guanshui Liu, Yingli Liu, Jie Chen, Zhenjing Liu, Licai Yuan, Zhenhua Liu, Xuehui Huang, Tingting Lu, Benhua Fei, Zemin Ning, Bin Han & Zehui Jiang
doi:10.1038/ng.2569
Bin Han and colleagues report the draft genome of moso bamboo, an important non-timber forest product. RNA sequencing analysis of bamboo flowering tissues suggests a connection between drought-responsive genes and potential flowering genes.

OsLG1 regulates a closed panicle trait in domesticated rice   pp462 - 465
Takashige Ishii, Koji Numaguchi, Kotaro Miura, Kentaro Yoshida, Pham Thien Thanh, Than Myint Htun, Masanori Yamasaki, Norio Komeda, Takashi Matsumoto, Ryohei Terauchi, Ryo Ishikawa & Motoyuki Ashikari
doi:10.1038/ng.2567
Takashige Ishii and colleagues report that the closed panicle phenotype in the cultivated rice, Oryza sativa, is controlled by the OsLG1 gene. Closed panicles lead to higher seed retention, and the authors show evidence for selection at this locus during rice domestication.

Top
Advertisement
Nature Genetics, Anhui Medical University, Shanghai Jiao Tong University and Fudan University in China present:
From GWAS to Precision Medicine
May 16 - 18, 2013
Shanghai, China

Click here for more information or to register for this conference today!
 
nature events
Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here.
Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com
More Nature Events

You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/myaccount
(You will need to log in to be recognised as a nature.com registrant)

For further technical assistance, please contact our registration department

For print subscription enquiries, please contact our subscription department

For other enquiries, please contact our customer feedback department

Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA

Nature Publishing Group's worldwide offices:
London - Paris - Munich - New Delhi - Tokyo - Melbourne
San Diego - San Francisco - Washington - New York - Boston

Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS.

© 2013 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.

nature publishing group

No comments: