Table of contents


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Editorial

Conventional wisdom p363

doi:10.1038/ng0510-363

Recent agreement on stable reference sequences for reporting human genetic variants now allows us to mandate the use of the allele naming conventions developed by the Human Genome Variation Society.


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News and Views

Copy number variation and human genome maps pp365 - 366

Steven A McCarroll

doi:10.1038/ng0510-365

See also: Article by Conrad et al. | Letter by Park et al.


Chipping away at the genetics of smoking behavior pp366 - 368

Christopher I Amos, Margaret R Spitz & Paul Cinciripini

doi:10.1038/ng0510-366

See also: Letter by Liu et al. | Letter by Furberg et al. | Letter by Thorgeirsson et al.


Fanconi anemia and breast cancer susceptibility meet again pp368 - 369

Ephrat Levy-Lahad

doi:10.1038/ng0510-368

See also: Letter by Vaz et al. | Letter by Meindl et al.


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Research Highlights

Research highlights p371

doi:10.1038/ng0510-371


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Brief Communication

Genetic loci influencing kidney function and chronic kidney disease pp373 - 375

John C Chambers, Weihua Zhang, Graham M Lord, Pim van der Harst, Debbie A Lawlor, Joban S Sehmi, Daniel P Gale, Mark N Wass, Kourosh R Ahmadi, Stephan J L Bakker, Jacqui Beckmann, Henk J G Bilo, Murielle Bochud, Morris J Brown, Mark J Caulfield, John M C Connell, H Terence Cook, Ioana Cotlarciuc, George Davey Smith, Ranil de Silva, Guohong Deng, Olivier Devuyst, Lambert D Dikkeschei, Nada Dimkovic, Mark Dockrell, Anna Dominiczak, Shah Ebrahim, Thomas Eggermann, Martin Farrall, Luigi Ferrucci, Jurgen Floege, Nita G Forouhi, Ron T Gansevoort, Xijin Han, Bo Hedblad, Jaap J Homan van der Heide, Bouke G Hepkema, Maria Hernandez-Fuentes, Elina Hypponen, Toby Johnson, Paul E de Jong, Nanne Kleefstra, Vasiliki Lagou, Marta Lapsley, Yun Li, Ruth J F Loos, Jian'an Luan, Karin Luttropp, Céline Maréchal, Olle Melander, Patricia B Munroe, Louise Nordfors, Afshin Parsa, Leena Peltonen, Brenda W Penninx, Esperanza Perucha, Anneli Pouta, Inga Prokopenko, Paul J Roderick, Aimo Ruokonen, Nilesh J Samani, Serena Sanna, Martin Schalling, David Schlessinger, Georg Schlieper, Marc A J Seelen, Alan R Shuldiner, Marketa Sjögren, Johannes H Smit, Harold Snieder, Nicole Soranzo, Timothy D Spector, Peter Stenvinkel, Michael J E Sternberg, Ramasamyiyer Swaminathan, Toshiko Tanaka, Lielith J Ubink-Veltmaat, Manuela Uda, Peter Vollenweider, Chris Wallace, Dawn Waterworth, Klaus Zerres, Gerard Waeber, Nicholas J Wareham, Patrick H Maxwell, Mark I McCarthy, Marjo-Riitta Jarvelin, Vincent Mooser, Goncalo R Abecasis, Liz Lightstone, James Scott, Gerjan Navis, Paul Elliott & Jaspal S Kooner

doi:10.1038/ng.566

John Chambers and colleagues identify common variants at four loci associated with serum creatinine levels, a marker of kidney function. Their findings provide insight into the pathways underlying susceptibility to chronic kidney disease.


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Articles

New loci associated with kidney function and chronic kidney disease pp376 - 384

Anna Köttgen, Cristian Pattaro, Carsten A Böger, Christian Fuchsberger, Matthias Olden, Nicole L Glazer, Afshin Parsa, Xiaoyi Gao, Qiong Yang, Albert V Smith, Jeffrey R O'Connell, Man Li, Helena Schmidt, Toshiko Tanaka, Aaron Isaacs, Shamika Ketkar, Shih-Jen Hwang, Andrew D Johnson, Abbas Dehghan, Alexander Teumer, Guillaume Paré, Elizabeth J Atkinson, Tanja Zeller, Kurt Lohman, Marilyn C Cornelis, Nicole M Probst-Hensch, Florian Kronenberg, Anke Tönjes, Caroline Hayward, Thor Aspelund, Gudny Eiriksdottir, Lenore J Launer, Tamara B Harris, Evadnie Rampersaud, Braxton D Mitchell, Dan E Arking, Eric Boerwinkle, Maksim Struchalin, Margherita Cavalieri, Andrew Singleton, Francesco Giallauria, Jeffrey Metter, Ian H de Boer, Talin Haritunians, Thomas Lumley, David Siscovick, Bruce M Psaty, M Carola Zillikens, Ben A Oostra, Mary Feitosa, Michael Province, Mariza de Andrade, Stephen T Turner, Arne Schillert, Andreas Ziegler, Philipp S Wild, Renate B Schnabel, Sandra Wilde, Thomas F Munzel, Tennille S Leak, Thomas Illig, Norman Klopp, Christa Meisinger, H-Erich Wichmann, Wolfgang Koenig, Lina Zgaga, Tatijana Zemunik, Ivana Kolcic, Cosetta Minelli, Frank B Hu, Åsa Johansson, Wilmar Igl, Ghazal Zaboli, Sarah H Wild, Alan F Wright, Harry Campbell, David Ellinghaus, Stefan Schreiber, Yurii S Aulchenko, Janine F Felix, Fernando Rivadeneira, Andre G Uitterlinden, Albert Hofman, Medea Imboden, Dorothea Nitsch, Anita Brandstätter, Barbara Kollerits, Lyudmyla Kedenko, Reedik Mägi, Michael Stumvoll, Peter Kovacs, Mladen Boban, Susan Campbell, Karlhans Endlich, Henry Völzke, Heyo K Kroemer, Matthias Nauck, Uwe Völker, Ozren Polasek, Veronique Vitart, Sunita Badola, Alexander N Parker, Paul M Ridker, Sharon L R Kardia, Stefan Blankenberg, Yongmei Liu, Gary C Curhan, Andre Franke, Thierry Rochat, Bernhard Paulweber, Inga Prokopenko, Wei Wang, Vilmundur Gudnason, Alan R Shuldiner, Josef Coresh, Reinhold Schmidt, Luigi Ferrucci, Michael G Shlipak, Cornelia M van Duijn, Ingrid Borecki, Bernhard K Krämer, Igor Rudan, Ulf Gyllensten, James F Wilson, Jacqueline C Witteman, Peter P Pramstaller, Rainer Rettig, Nick Hastie, Daniel I Chasman, W H Kao, Iris M Heid & Caroline S Fox

doi:10.1038/ng.568

Caroline Fox and colleagues report results of a large genome-wide association meta-analysis and replication study for indices of renal function. Their work identifies 13 new loci associated with renal function and 7 loci associated with creatinine production and secretion.


Mutation spectrum revealed by breakpoint sequencing of human germline CNVs pp385 - 391

Donald F Conrad, Christine Bird, Ben Blackburne, Sarah Lindsay, Lira Mamanova, Charles Lee, Daniel J Turner & Matthew E Hurles

doi:10.1038/ng.564

Matthew Hurles and colleagues report the sequencing of breakpoints for over 300 CNVs detected in genomes of three individuals, using targeted hybridization-based DNA capture and 454-sequencing.

See also: News and Views by McCarroll | Letter by Park et al.


From transcriptome analysis to therapeutic anti-CD40L treatment in the SOD1 model of amyotrophic lateral sclerosis pp392 - 399

John M Lincecum, Fernando G Vieira, Monica Z Wang, Kenneth Thompson, Gerald S De Zutter, Joshua Kidd, Andrew Moreno, Ricardo Sanchez, Isarelis J Carrion, Beth A Levine, Bashar M Al-Nakhala, Shawn M Sullivan, Alan Gill & Steven Perrin

doi:10.1038/ng.557

Steven Perrin and colleagues identified the transcriptionally upregulated co-stimulatory pathway in the SOD1 mouse model of amyotrophic lateral sclerosis. Monoclonal anti-CD40L therapy delayed paralysis and extended survival.


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Letters

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing pp400 - 405

Hansoo Park, Jong-Il Kim, Young Seok Ju, Omer Gokcumen, Ryan E Mills, Sheehyun Kim, Seungbok Lee, Dongwhan Suh, Dongwan Hong, Hyunseok Peter Kang, Yun Joo Yoo, Jong-Yeon Shin, Hyun-Jin Kim, Maryam Yavartanoo, Young Wha Chang, Jung-Sook Ha, Wilson Chong, Ga-Ram Hwang, Katayoon Darvishi, HyeRan Kim, Song Ju Yang, Kap-Seok Yang, Hyungtae Kim, Matthew E Hurles, Stephen W Scherer, Nigel P Carter, Chris Tyler-Smith, Charles Lee & Jeong-Sun Seo

doi:10.1038/ng.555

Jeong-Sun Seo and colleagues report a catalog of common CNVs in Asians. The authors integrated high-resolution array CGH data with next-generation DNA sequencing data to discover 3,568 putative Asian-specific CNVs.

See also: News and Views by McCarroll | Article by Conrad et al.


Mutation of the RAD51C gene in a Fanconi anemia–like disorder pp406 - 409

Fiona Vaz, Helmut Hanenberg, Beatrice Schuster, Karen Barker, Constanze Wiek, Verena Erven, Kornelia Neveling, Daniela Endt, Ian Kesterton, Flavia Autore, Franca Fraternali, Marcel Freund, Linda Hartmann, David Grimwade, Roland G Roberts, Heiner Schaal, Shehla Mohammed, Nazneen Rahman, Detlev Schindler & Christopher G Mathew

doi:10.1038/ng.570

Christopher Mathew and colleagues report a homozygous germline mutation of RAD51C in a Fanconi anemia-like disorder. Mutation of RAD51C, encoding a protein involved in homologous recombination-mediated DNA repair, leads to hypersensitivity to DNA cross-linking agents.

See also: News and Views by Levy-Lahad | Letter by Meindl et al.


Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene pp410 - 414

Alfons Meindl, Heide Hellebrand, Constanze Wiek, Verena Erven, Barbara Wappenschmidt, Dieter Niederacher, Marcel Freund, Peter Lichtner, Linda Hartmann, Heiner Schaal, Juliane Ramser, Ellen Honisch, Christian Kubisch, Hans E Wichmann, Karin Kast, Helmut Deißler, Christoph Engel, Bertram Müller-Myhsok, Kornelia Neveling, Marion Kiechle, Christopher G Mathew, Detlev Schindler, Rita K Schmutzler & Helmut Hanenberg

doi:10.1038/ng.569

Alfons Meindl and colleagues report heterozygous germline mutations in RAD51C in families with breast and ovarian cancer. Mutations were found in 1.3% of 480 pedigrees with breast and ovarian cancer, but not in 620 pedigrees with breast cancer only.

See also: News and Views by Levy-Lahad | Letter by Vaz et al.


A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer pp415 - 419

Lambertus A Kiemeney, Patrick Sulem, Soren Besenbacher, Sita H Vermeulen, Asgeir Sigurdsson, Gudmar Thorleifsson, Daniel F Gudbjartsson, Simon N Stacey, Julius Gudmundsson, Carlo Zanon, Jelena Kostic, Gisli Masson, Hjordis Bjarnason, Stefan T Palsson, Oskar B Skarphedinsson, Sigurjon A Gudjonsson, J Alfred Witjes, Anne J Grotenhuis, Gerald W Verhaegh, D Timothy Bishop, Sei Chung Sak, Ananya Choudhury, Faye Elliott, Jennifer H Barrett, Carolyn D Hurst, Petra J de Verdier, Charlotta Ryk, Peter Rudnai, Eugene Gurzau, Kvetoslava Koppova, Paolo Vineis, Silvia Polidoro, Simonetta Guarrera, Carlotta Sacerdote, Marcello Campagna, Donatella Placidi, Cecilia Arici, Maurice P Zeegers, Eliane Kellen, Berta Saez Gutierrez, José I Sanz-Velez, Manuel Sanchez-Zalabardo, Gabriel Valdivia, Maria D Garcia-Prats, Jan G Hengstler, Meinolf Blaszkewicz, Holger Dietrich, Roel A Ophoff, Leonard H van den Berg, Kristin Alexiusdottir, Kristleifur Kristjansson, Gudmundur Geirsson, Sigfus Nikulasson, Vigdis Petursdottir, Augustine Kong, Thorgeir Thorgeirsson, N Aydin Mungan, Annika Lindblom, Michael A van Es, Stefano Porru, Frank Buntinx, Klaus Golka, José I Mayordomo, Rajiv Kumar, Giuseppe Matullo, Gunnar Steineck, Anne E Kiltie, Katja K H Aben, Eirikur Jonsson, Unnur Thorsteinsdottir, Margaret A Knowles, Thorunn Rafnar & Kari Stefansson

doi:10.1038/ng.558

Thorunn Rafnar and colleagues identify a variant on 4p16.3 near FGFR3 associated with increased risk of urinary bladder cancer. They find that the risk allele is more frequent among individuals with tumors that carry an activating somatic mutation in FGFR3, suggesting a link between germline variation, somatic mutation status and cancer risk.


Genome-wide association study of intracranial aneurysm identifies three new risk loci pp420 - 425

Katsuhito Yasuno, Kaya Bilguvar, Philippe Bijlenga, Siew-Kee Low, Boris Krischek, Georg Auburger, Matthias Simon, Dietmar Krex, Zulfikar Arlier, Nikhil Nayak, Ynte M Ruigrok, Mika Niemelä, Atsushi Tajima, Mikael von und zu Fraunberg, Tamás Dóczi, Florentina Wirjatijasa, Akira Hata, Jordi Blasco, Agi Oszvald, Hidetoshi Kasuya, Gulam Zilani, Beate Schoch, Pankaj Singh, Carsten Stüer, Roelof Risselada, Jürgen Beck, Teresa Sola, Filomena Ricciardi, Arpo Aromaa, Thomas Illig, Stefan Schreiber, Cornelia M van Duijn, Leonard H van den Berg, Claire Perret, Carole Proust, Constantin Roder, Ali K Ozturk, Emília Gaál, Daniela Berg, Christof Geisen, Christoph M Friedrich, Paul Summers, Alejandro F Frangi, Matthew W State, H Erich Wichmann, Monique M B Breteler, Cisca Wijmenga, Shrikant Mane, Leena Peltonen, Vivas Elio, Miriam C J M Sturkenboom, Patricia Lawford, James Byrne, Juan Macho, Erol I Sandalcioglu, Bernhard Meyer, Andreas Raabe, Helmuth Steinmetz, Daniel Rüfenacht, Juha E Jääskeläinen, Juha Hernesniemi, Gabriel J E Rinkel, Hitoshi Zembutsu, Ituro Inoue, Aarno Palotie, François Cambien, Yusuke Nakamura, Richard P Lifton & Murat Günel

doi:10.1038/ng.563

Murat Gunel and colleagues report a genome-wide association study for intracranial aneurysm and identify risk variants near RBBP8, CNNM and STARD13.


Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus pp426 - 429

Timothy R D J Radstake, Olga Gorlova, Blanca Rueda, Jose-Ezequiel Martin, Behrooz Z Alizadeh, Rogelio Palomino-Morales, Marieke J Coenen, Madelon C Vonk, Alexandre E Voskuyl, Annemie J Schuerwegh, Jasper C Broen, Piet L C M van Riel, Ruben van 't Slot, Annet Italiaander, Roel A Ophoff, Gabriela Riemekasten, Nico Hunzelmann, Carmen P Simeon, Norberto Ortego-Centeno, Miguel A González-Gay, María F González-Escribano, Spanish Scleroderma Group, Paolo Airo, Jaap van Laar, Ariane Herrick, Jane Worthington, Roger Hesselstrand, Vanessa Smith, Filip de Keyser, Fredric Houssiau, Meng May Chee, Rajan Madhok, Paul Shiels, Rene Westhovens, Alexander Kreuter, Hans Kiener, Elfride de Baere, Torsten Witte, Leonid Padykov, Lars Klareskog, Lorenzo Beretta, Rafaella Scorza, Benedicte A Lie, Anna-Maria Hoffmann-Vold, Patricia Carreira, John Varga, Monique Hinchcliff, Peter K Gregersen, Annette T Lee, Jun Ying, Younghun Han, Shih-Feng Weng, Christopher I Amos, Fredrick M Wigley, Laura Hummers, J Lee Nelson, Sandeep K Agarwal, Shervin Assassi, Pravitt Gourh, Filemon K Tan, Bobby P C Koeleman, Frank C Arnett, Javier Martin & Maureen D Mayes

doi:10.1038/ng.565

Timothy Radstake and Maureen Mayes and colleagues report results of a genome-wide association study of systemic sclerosis. They identify a new susceptibility locus at CD247.


Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight pp430 - 435

Rachel M Freathy, Dennis O Mook-Kanamori, Ulla Sovio, Inga Prokopenko, Nicholas J Timpson, Diane J Berry, Nicole M Warrington, Elisabeth Widen, Jouke Jan Hottenga, Marika Kaakinen, Leslie A Lange, Jonathan P Bradfield, Marjan Kerkhof, Julie A Marsh, Reedik Mägi, Chih-Mei Chen, Helen N Lyon, Mirna Kirin, Linda S Adair, Yurii S Aulchenko, Amanda J Bennett, Judith B Borja, Nabila Bouatia-Naji, Pimphen Charoen, Lachlan J M Coin, Diana L Cousminer, Eco J C de Geus, Panos Deloukas, Paul Elliott, David M Evans, Philippe Froguel, The Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Beate Glaser, Christopher J Groves, Anna-Liisa Hartikainen, Neelam Hassanali, Joel N Hirschhorn, Albert Hofman, Jeff M P Holly, Elina Hyppönen, Stavroula Kanoni, Bridget A Knight, Jaana Laitinen, Cecilia M Lindgren, The Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC), Wendy L McArdle, Paul F O'Reilly, Craig E Pennell, Dirkje S Postma, Anneli Pouta, Adaikalavan Ramasamy, Nigel W Rayner, Susan M Ring, Fernando Rivadeneira, Beverley M Shields, David P Strachan, Ida Surakka, Anja Taanila, Carla Tiesler, Andre G Uitterlinden, Cornelia M van Duijn, The Wellcome Trust Case Control Consortium (WTCCC), Alet H Wijga, Gonneke Willemsen, Haitao Zhang, Jianhua Zhao, James F Wilson, Eric A P Steegers, Andrew T Hattersley, Johan G Eriksson, Leena Peltonen, Karen L Mohlke, Struan F A Grant, Hakon Hakonarson, Gerard H Koppelman, George V Dedoussis, Joachim Heinrich, Matthew W Gillman, Lyle J Palmer, Timothy M Frayling, Dorret I Boomsma, George Davey Smith, Chris Power, Vincent W V Jaddoe, Marjo-Riitta Jarvelin & Mark I McCarthy for the Early Growth Genetics (EGG) Consortium

doi:10.1038/ng.567

Mark McCarthy and colleagues report a genome-wide association study of birth weight. They identified two loci, in ADCY5 and near CCNL1, that are associated with birth weight and explain 0.3% and 0.1% of the variance in birth weight, respectively.


Meta-analysis and imputation refines the association of 15q25 with smoking quantity pp436 - 440

Jason Z Liu, Federica Tozzi, Dawn M Waterworth, Sreekumar G Pillai, Pierandrea Muglia, Lefkos Middleton, Wade Berrettini, Christopher W Knouff, Xin Yuan, Gérard Waeber, Peter Vollenweider, Martin Preisig, Nicholas J Wareham, Jing Hua Zhao, Ruth J F Loos, Inês Barroso, Kay-Tee Khaw, Scott Grundy, Philip Barter, Robert Mahley, Antero Kesaniemi, Ruth McPherson, John B Vincent, John Strauss, James L Kennedy, Anne Farmer, Peter McGuffin, Richard Day, Keith Matthews, Per Bakke, Amund Gulsvik, Susanne Lucae, Marcus Ising, Tanja Brueckl, Sonja Horstmann, H-Erich Wichmann, Rajesh Rawal, Norbert Dahmen, Claudia Lamina, Ozren Polasek, Lina Zgaga, Jennifer Huffman, Susan Campbell, Jaspal Kooner, John C Chambers, Mary Susan Burnett, Joseph M Devaney, Augusto D Pichard, Kenneth M Kent, Lowell Satler, Joseph M Lindsay, Ron Waksman, Stephen Epstein, James F Wilson, Sarah H Wild, Harry Campbell, Veronique Vitart, Muredach P Reilly, Mingyao Li, Liming Qu, Robert Wilensky, William Matthai, Hakon H Hakonarson, Daniel J Rader, Andre Franke, Michael Wittig, Arne Schäfer, Manuela Uda, Antonio Terracciano, Xiangjun Xiao, Fabio Busonero, Paul Scheet, David Schlessinger, David St Clair, Dan Rujescu, Gonçalo R Abecasis, Hans Jörgen Grabe, Alexander Teumer, Henry Völzke, Astrid Petersmann, Ulrich John, Igor Rudan, Caroline Hayward, Alan F Wright, Ivana Kolcic, Benjamin J Wright, John R Thompson, Anthony J Balmforth, Alistair S Hall, Nilesh J Samani, Carl A Anderson, Tariq Ahmad, Christopher G Mathew, Miles Parkes, Jack Satsangi, Mark Caulfield, Patricia B Munroe, Martin Farrall, Anna Dominiczak, Jane Worthington, Wendy Thomson, Steve Eyre, Anne Barton, The Wellcome Trust Case Control Consortium, Vincent Mooser, Clyde Francks & Jonathan Marchini

doi:10.1038/ng.572

Jonathan Marchini and colleagues with the Ox-GSK consortium report a meta-analysis for smoking phenotypes from 20 studies including 41,150 individuals, confirming an association at the CHRNA5CHRNA3 locus on 15q25 to smoking quantity. They use imputation based on 1,000 Genomes Project Pilot 1 data to refine the association at this locus.

See also: News and Views by Amos et al. | Letter by Furberg et al. | Letter by Thorgeirsson et al.


Genome-wide meta-analyses identify multiple loci associated with smoking behavior pp441 - 447

The Tobacco and Genetics Consortium

doi:10.1038/ng.571

The Tobacco and Genetics Consortium report meta-analyses of several smoking phenotypes across 16 cohorts including 74,053 individuals. They identify three loci associated with cigarettes smoked per day.

See also: News and Views by Amos et al. | Letter by Liu et al. | Letter by Thorgeirsson et al.


Sequence variants at CHRNB3CHRNA6 and CYP2A6 affect smoking behavior pp448 - 453

Thorgeir E Thorgeirsson, Daniel F Gudbjartsson, Ida Surakka, Jacqueline M Vink, Najaf Amin, Frank Geller, Patrick Sulem, Thorunn Rafnar, Tõnu Esko, Stefan Walter, Christian Gieger, Rajesh Rawal, Massimo Mangino, Inga Prokopenko, Reedik Mägi, Kaisu Keskitalo, Iris H Gudjonsdottir, Solveig Gretarsdottir, Hreinn Stefansson, John R Thompson, Yurii S Aulchenko, Mari Nelis, Katja K Aben, Martin den Heijer, Asger Dirksen, Haseem Ashraf, Nicole Soranzo, Ana M Valdes, Claire Steves, André G Uitterlinden, Albert Hofman, Anke Tönjes, Peter Kovacs, Jouke Jan Hottenga, Gonneke Willemsen, Nicole Vogelzangs, Angela Döring, Norbert Dahmen, Barbara Nitz, Michele L Pergadia, Berta Saez, Veronica De Diego, Victoria Lezcano, Maria D Garcia-Prats, Samuli Ripatti, Markus Perola, Johannes Kettunen, Anna-Liisa Hartikainen, Anneli Pouta, Jaana Laitinen, Matti Isohanni, Shen Huei-Yi, Maxine Allen, Maria Krestyaninova, Alistair S Hall, Gregory T Jones, Andre M van Rij, Thomas Mueller, Benjamin Dieplinger, Meinhard Haltmayer, Steinn Jonsson, Stefan E Matthiasson, Hogni Oskarsson, Thorarinn Tyrfingsson, Lambertus A Kiemeney, Jose I Mayordomo, Jes S Lindholt, Jesper Holst Pedersen, Wilbur A Franklin, Holly Wolf, Grant W Montgomery, Andrew C Heath, Nicholas G Martin, Pamela A F Madden, Ina Giegling, Dan Rujescu, Marjo-Riitta Järvelin, Veikko Salomaa, Michael Stumvoll, Tim D Spector, H-Erich Wichmann, Andres Metspalu, Nilesh J Samani, Brenda W Penninx, Ben A Oostra, Dorret I Boomsma, Henning Tiemeier, Cornelia M van Duijn, Jaakko Kaprio, Jeffrey R Gulcher, The ENGAGE Consortium, Mark I McCarthy, Leena Peltonen, Unnur Thorsteinsdottir & Kari Stefansson

doi:10.1038/ng.573

Kari Stefansson and colleagues report genome-wide meta-analyses for association to smoking behaviors within the population cohorts of the ENGAGE consortium. They report three loci associated to cigarettes smoked per day.

See also: News and Views by Amos et al. | Letter by Liu et al. | Letter by Furberg et al.


Subtle variations in Pten dose determine cancer susceptibility pp454 - 458

Andrea Alimonti, Arkaitz Carracedo, John G Clohessy, Lloyd C Trotman, Caterina Nardella, Ainara Egia, Leonardo Salmena, Katia Sampieri, William J Haveman, Edi Brogi, Andrea L Richardson, Jiangwen Zhang & Pier Paolo Pandolfi

doi:10.1038/ng.556

Pier Paolo Pandolfi and colleagues report the generation of mice that express 80% of normal levels of the PTEN tumor suppressor. The mice develop a spectrum of tumors, including breast tumors that retain two copies of Pten, suggesting that subtle changes in expression can predispose to tumorigenesis.


The flowering gene SINGLE FLOWER TRUSS drives heterosis for yield in tomato pp459 - 463

Uri Krieger, Zachary B Lippman & Dani Zamir

doi:10.1038/ng.550

Zachary Lippman, Dani Zamir and colleagues report that the flowering gene, SINGLE FLOWER TRUSS, displays heterosis for fruit yield in tomato. Heterozygosity at this gene in several distinct genetic backgrounds leads to increases of up to 60% in fruit yield.


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Erratum

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk p464

Josée Dupuis, Claudia Langenberg, Inga Prokopenko, Richa Saxena, Nicole Soranzo, Anne U Jackson, Eleanor Wheeler, Nicole L Glazer, Nabila Bouatia-Naji, Anna L Gloyn, Cecilia M Lindgren, Reedik Mägi, Andrew P Morris, Joshua Randall, Toby Johnson, Paul Elliott, Denis Rybin, Gudmar Thorleifsson, Valgerdur Steinthorsdottir, Peter Henneman, Harald Grallert, Abbas Dehghan, Jouke Jan Hottenga, Christopher S Franklin, Pau Navarro, Kijoung Song, Anuj Goel, John R B Perry, Josephine M Egan, Taina Lajunen, Niels Grarup, Thomas Sparsø, Alex Doney, Benjamin F Voight, Heather M Stringham, Man Li, Stavroula Kanoni, Peter Shrader, Christine Cavalcanti-Proença, Meena Kumari, Lu Qi, Nicholas J Timpson, Christian Gieger, Carina Zabena, Ghislain Rocheleau, Erik Ingelsson, Ping An, Jeffrey O'Connell, Jian'an Luan, Amanda Elliott, Steven A McCarroll, Felicity Payne, Rosa Maria Roccasecca, François Pattou, Praveen Sethupathy, Kristin Ardlie, Yavuz Ariyurek, Beverley Balkau, Philip Barter, John P Beilby, Yoav Ben-Shlomo, Rafn Benediktsson, Amanda J Bennett, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Amélie Bonnefond, Lori L Bonnycastle, Knut Borch-Johnsen, Yvonne Böttcher, Eric Brunner, Suzannah J Bumpstead, Guillaume Charpentier, Yii-Der Ida Chen, Peter Chines, Robert Clarke, Lachlan J M Coin, Matthew N Cooper, Marilyn Cornelis, Gabe Crawford, Laura Crisponi, Ian N M Day, Eco J C de Geus, Jerome Delplanque, Christian Dina, Michael R Erdos, Annette C Fedson, Antje Fischer-Rosinsky, Nita G Forouhi, Caroline S Fox, Rune Frants, Maria Grazia Franzosi, Pilar Galan, Mark O Goodarzi, Jürgen Graessler, Christopher J Groves, Scott Grundy, Rhian Gwilliam, Ulf Gyllensten, Samy Hadjadj, Göran Hallmans, Naomi Hammond, Xijing Han, Anna-Liisa Hartikainen, Neelam Hassanali, Caroline Hayward, Simon C Heath, Serge Hercberg, Christian Herder, Andrew A Hicks, David R Hillman, Aroon D Hingorani, Albert Hofman, Jennie Hui, Joe Hung, Bo Isomaa, Paul R V Johnson, Torben Jørgensen, Antti Jula, Marika Kaakinen, Jaakko Kaprio, Y Antero Kesaniemi, Mika Kivimaki, Beatrice Knight, Seppo Koskinen, Peter Kovacs, Kirsten Ohm Kyvik, G Mark Lathrop, Debbie A Lawlor, Olivier Le Bacquer, Cécile Lecoeur, Yun Li, Valeriya Lyssenko, Robert Mahley, Massimo Mangino, Alisa K Manning, María Teresa Martínez-Larrad, Jarred B McAteer, Laura J McCulloch, Ruth McPherson, Christa Meisinger, David Melzer, David Meyre, Braxton D Mitchell, Mario A Morken, Sutapa Mukherjee, Silvia Naitza, Narisu Narisu, Matthew J Neville, Ben A Oostra, Marco Orrù, Ruth Pakyz, Colin N A Palmer, Giuseppe Paolisso, Cristian Pattaro, Daniel Pearson, John F Peden, Nancy L Pedersen, Markus Perola, Andreas F H Pfeiffer, Irene Pichler, Ozren Polasek, Danielle Posthuma, Simon C Potter, Anneli Pouta, Michael A Province, Bruce M Psaty, Wolfgang Rathmann, Nigel W Rayner, Kenneth Rice, Samuli Ripatti, Fernando Rivadeneira, Michael Roden, Olov Rolandsson, Annelli Sandbaek, Manjinder Sandhu, Serena Sanna, Avan Aihie Sayer, Paul Scheet, Laura J Scott, Udo Seedorf, Stephen J Sharp, Beverley Shields, Gunnar SigurÐsson, Eric J G Sijbrands, Angela Silveira, Laila Simpson, Andrew Singleton, Nicholas L Smith, Ulla Sovio, Amy Swift, Holly Syddall, Ann-Christine Syvänen, Toshiko Tanaka, Barbara Thorand, Jean Tichet, Anke Tönjes, Tiinamaija Tuomi, André G Uitterlinden, Ko Willems van Dijk, Mandy van Hoek, Dhiraj Varma, Sophie Visvikis-Siest, Veronique Vitart, Nicole Vogelzangs, Gérard Waeber, Peter J Wagner, Andrew Walley, G Bragi Walters, Kim L Ward, Hugh Watkins, Michael N Weedon, Sarah H Wild, Gonneke Willemsen, Jaqueline C M Witteman, John W G Yarnell, Eleftheria Zeggini, Diana Zelenika, Björn Zethelius, Guangju Zhai, Jing Hua Zhao, M Carola Zillikens, DIAGRAM Consortium, GIANT Consortium, Global BPgen Consortium, Ingrid B Borecki, Ruth J F Loos, Pierre Meneton, Patrik K E Magnusson, David M Nathan, Gordon H Williams, Andrew T Hattersley, Kaisa Silander, Veikko Salomaa, George Davey Smith, Stefan R Bornstein, Peter Schwarz, Joachim Spranger, Fredrik Karpe, Alan R Shuldiner, Cyrus Cooper, George V Dedoussis, Manuel Serrano-Ríos, Andrew D Morris, Lars Lind, Lyle J Palmer, Frank B Hu, Paul W Franks, Shah Ebrahim, Michael Marmot, W H Linda Kao, James S Pankow, Michael J Sampson, Johanna Kuusisto, Markku Laakso, Torben Hansen, Oluf Pedersen, Peter Paul Pramstaller, H Erich Wichmann, Thomas Illig, Igor Rudan, Alan F Wright, Michael Stumvoll, Harry Campbell, James F Wilson, Anders Hamsten on behalf of Procardis Consortium, Richard N Bergman, Thomas A Buchanan, Francis S Collins, Karen L Mohlke, Jaakko Tuomilehto, Timo T Valle, David Altshuler, Jerome I Rotter, David S Siscovick, Brenda W J H Penninx, Dorret I Boomsma, Panos Deloukas, Timothy D Spector, Timothy M Frayling, Luigi Ferrucci, Augustine Kong, Unnur Thorsteinsdottir, Kari Stefansson, Cornelia M van Duijn, Yurii S Aulchenko, Antonio Cao, Angelo Scuteri, David Schlessinger, Manuela Uda, Aimo Ruokonen, Marjo-Riitta Jarvelin, Dawn M Waterworth, Peter Vollenweider, Leena Peltonen, Vincent Mooser, Goncalo R Abecasis, Nicholas J Wareham, Robert Sladek, Philippe Froguel, Richard M Watanabe, James B Meigs, Leif Groop, Michael Boehnke, Mark I McCarthy, Jose C Florez & Inês Barroso for the MAGIC investigators

doi:10.1038/ng0510-464a


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Corrigenda

Corrigendum: A TARBP2 mutation in human cancer impairs microRNA processing and DICER1 function p464

Sonia A Melo, Santiago Ropero, Catia Moutinho, Lauri A Aaltonen, Hiroyuki Yamamoto, George A Calin, Simona Rossi, Agustin F Fernandez, Fatima Carneiro, Carla Oliveira, Bibiana Ferreira, Chang-Gong Liu, Alberto Villanueva, Gabriel Capella, Simo Schwartz Jr, Ramin Shiekhattar & Manel Esteller

doi:10.1038/ng0510-464b


Corrigendum: Multiple common variants for celiac disease influencing immune gene expression p465

Patrick C A Dubois, Gosia Trynka, Lude Franke, Karen A Hunt, Jihane Romanos, Alessandra Curtotti, Alexandra Zhernakova, Graham A R Heap, Róza Ádány, Arpo Aromaa, Maria Teresa Bardella, Leonard H van den Berg, Nicholas A Bockett, Emilio G de la Concha, Bárbara Dema, Rudolf S N Fehrmann, Miguel Fernández-Arquero, Szilvia Fiatal, Elvira Grandone, Peter M Green, Harry J M Groen, Rhian Gwilliam, Roderick H J Houwen, Sarah E Hunt, Katri Kaukinen, Dermot Kelleher, Ilma Korponay-Szabo, Kalle Kurppa, Padraic MacMathuna, Markku Mäki, Maria Cristina Mazzilli, Owen T McCann, M Luisa Mearin, Charles A Mein, Muddassar M Mirza, Vanisha Mistry, Barbara Mora, Katherine I Morley, Chris J Mulder, Joseph A Murray, Concepción Núñez, Elvira Oosterom, Roel A Ophoff, Isabel Polanco, Leena Peltonen, Mathieu Platteel, Anna Rybak, Veikko Salomaa, Joachim J Schweizer, Maria Pia Sperandeo, Greetje J Tack, Graham Turner, Jan H Veldink, Wieke H M Verbeek, Rinse K Weersma, Victorien M Wolters, Elena Urcelay, Bozena Cukrowska, Luigi Greco, Susan L Neuhausen, Ross McManus, Donatella Barisani, Panos Deloukas, Jeffrey C Barrett, Paivi Saavalainen, Cisca Wijmenga & David A van Heel

doi:10.1038/ng0510-465


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