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Editorial

A question of benefit p811

doi:10.1038/ng1010-811

Newborn screening panels for genetic diseases are now nearly uniform across the United States, and expanded panels now test for diseases for which there is no known treatment. This expansion of newborn screening raises questions about whether traditional assumptions of implied consent are appropriate.


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Correspondence

Public data archives for genomic structural variation pp813 - 814

Deanna M Church, Ilkka Lappalainen, Tam P Sneddon, Jonathan Hinton, Michael Maguire, John Lopez, John Garner, Justin Paschall, Michael DiCuccio, Eugene Yaschenko, Stephen W Scherer, Lars Feuk & Paul Flicek

doi:10.1038/ng1010-813


Gene-environment interaction influences the reactivity of autoantibodies to citrullinated antigens in rheumatoid arthritis pp814 - 816

Diane van der Woude, Wendimagegn Ghidey Alemayehu, Willem Verduijn, René R P de Vries, Jeanine J Houwing-Duistermaat, Tom W J Huizinga & René E M Toes

doi:10.1038/ng1010-814


Reply to “Gene-environment interaction influences the reactivity of autoantibodies to citrullinated antigens in rheumatoid arthritis” p816

Karin Lundberg, Lars Alfredsson, Henrik Källberg, Hiba Mahdi, Benjamin A Fisher, Vivianne Malmström, Patrick J Venables & Lars Klareskog

doi:10.1038/ng1010-816


Reassessing the TARBP2 mutation rate in hereditary nonpolyposis colorectal cancer pp817 - 818

Pilar Garre, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés & Miguel de la Hoya

doi:10.1038/ng1010-817


Reply to “Reassessing the TARBP2 mutation rate in hereditary nonpolyposis colorectal cancer” p818

Sonia A Melo & Manel Esteller

doi:10.1038/ng1010-818


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News and Views

GWAS identifies a common breast cancer risk allele among BRCA1 carriers pp819 - 820

Peter Kraft & Christopher A Haiman

doi:10.1038/ng1010-819

See also: Letter by Bolton et al. | Letter by Antoniou et al.


PRDM9 marks the spot pp821 - 822

Gil McVean & Simon Myers

doi:10.1038/ng1010-821

See also: Letter by Berg et al.


Harvesting the apple genome pp822 - 823

James Giovannoni

doi:10.1038/ng1010-822

See also: Article by Velasco et al.


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Research Highlights

Research highlights p825

doi:10.1038/ng1010-825


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Brief Communications

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome pp827 - 829

Peter M Krawitz, Michal R Schweiger, Christian Rödelsperger, Carlo Marcelis, Uwe Kölsch, Christian Meisel, Friederike Stephani, Taroh Kinoshita, Yoshiko Murakami, Sebastian Bauer, Melanie Isau, Axel Fischer, Andreas Dahl, Martin Kerick, Jochen Hecht, Sebastian Köhler, Marten Jäger, Johannes Grünhagen, Birgit Jonske de Condor, Sandra Doelken, Han G Brunner, Peter Meinecke, Eberhard Passarge, Miles D Thompson, David E Cole, Denise Horn, Tony Roscioli, Stefan Mundlos & Peter N Robinson

doi:10.1038/ng.653

Peter Robinson and colleagues performed exome sequencing on three siblings to identify mutations in PIGV in Hyperphosphatasia-Mental Retardation (HPMR) syndrome.


The ratio of human X chromosome to autosome diversity is positively correlated with genetic distance from genes pp830 - 831

Michael F Hammer, August E Woerner, Fernando L Mendez, Joseph C Watkins, Murray P Cox & Jeffrey D Wall

doi:10.1038/ng.651

Michael Hammer and colleagues follow two recent conflicting reports regarding the ratio of X-linked to autosomal nucleotide diversity by examining this question in a larger resequencing dataset and in publicly available sequence data from six human genomes. They suggest that the patterns of nucleotide diversity are influenced by local selection near genes that more strongly affects the X chromosome than the autosomes.


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Articles

The genome of the domesticated apple (Malus × domestica Borkh.) pp833 - 839

Riccardo Velasco, Andrey Zharkikh, Jason Affourtit, Amit Dhingra, Alessandro Cestaro, Ananth Kalyanaraman, Paolo Fontana, Satish K Bhatnagar, Michela Troggio, Dmitry Pruss, Silvio Salvi, Massimo Pindo, Paolo Baldi, Sara Castelletti, Marina Cavaiuolo, Giuseppina Coppola, Fabrizio Costa, Valentina Cova, Antonio Dal Ri, Vadim Goremykin, Matteo Komjanc, Sara Longhi, Pierluigi Magnago, Giulia Malacarne, Mickael Malnoy, Diego Micheletti, Marco Moretto, Michele Perazzolli, Azeddine Si-Ammour, Silvia Vezzulli, Elena Zini, Glenn Eldredge, Lisa M Fitzgerald, Natalia Gutin, Jerry Lanchbury, Teresita Macalma, Jeff T Mitchell, Julia Reid, Bryan Wardell, Chinnappa Kodira, Zhoutao Chen, Brian Desany, Faheem Niazi, Melinda Palmer, Tyson Koepke, Derick Jiwan, Scott Schaeffer, Vandhana Krishnan, Changjun Wu, Vu T Chu, Stephen T King, Jessica Vick, Quanzhou Tao, Amy Mraz, Aimee Stormo, Keith Stormo, Robert Bogden, Davide Ederle, Alessandra Stella, Alberto Vecchietti, Martin M Kater, Simona Masiero, Pauline Lasserre, Yves Lespinasse, Andrew C Allan, Vincent Bus, David Chagné, Ross N Crowhurst, Andrew P Gleave, Enrico Lavezzo, Jeffrey A Fawcett, Sebastian Proost, Pierre Rouzé, Lieven Sterck, Stefano Toppo, Barbara Lazzari, Roger P Hellens, Charles-Eric Durel, Alexander Gutin, Roger E Bumgarner, Susan E Gardiner, Mark Skolnick, Michael Egholm, Yves Van de Peer, Francesco Salamini & Roberto Viola

doi:10.1038/ng.654

Riccardo Velasco and colleagues report the genome sequence of the 'Golden Delicious' domesticated apple. These data shed new insight into the genomic events that preceded the origin of this crop.

See also: News and Views by Giovannoni


Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy pp840 - 850

Edgar A Otto, Toby W Hurd, Rannar Airik, Moumita Chaki, Weibin Zhou, Corinne Stoetzel, Suresh B Patil, Shawn Levy, Amiya K Ghosh, Carlos A Murga-Zamalloa, Jeroen van Reeuwijk, Stef J F Letteboer, Liyun Sang, Rachel H Giles, Qin Liu, Karlien L M Coene, Alejandro Estrada-Cuzcano, Rob W J Collin, Heather M McLaughlin, Susanne Held, Jennifer M Kasanuki, Gokul Ramaswami, Jinny Conte, Irma Lopez, Joseph Washburn, James MacDonald, Jinghua Hu, Yukiko Yamashita, Eamonn R Maher, Lisa M Guay-Woodford, Hartmut P H Neumann, Nicholas Obermüller, Robert K Koenekoop, Carsten Bergmann, Xiaoshu Bei, Richard A Lewis, Nicholas Katsanis, Vanda Lopes, David S Williams, Robert H Lyons, Chi V Dang, Daniela A Brito, Mónica Bettencourt Dias, Xinmin Zhang, James D Cavalcoli, Gudrun Nürnberg, Peter Nürnberg, Eric A Pierce, Peter K Jackson, Corinne Antignac, Sophie Saunier, Ronald Roepman, Helene Dollfus, Hemant Khanna & Friedhelm Hildebrandt

doi:10.1038/ng.662

Friedhelm Hildebrandt and colleagues combine homozygosity mapping with candidate exome capture and high-throughput sequencing to identify SDCCAG8 mutations as the cause of a retinal-renal ciliopathy. They further show that SDCCAG8 localizes to centrioles and that its depletion causes renal cysts and cell polarity defects.


High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency pp851 - 858

Sarah E Calvo, Elena J Tucker, Alison G Compton, Denise M Kirby, Gabriel Crawford, Noel P Burtt, Manuel Rivas, Candace Guiducci, Damien L Bruno, Olga A Goldberger, Michelle C Redman, Esko Wiltshire, Callum J Wilson, David Altshuler, Stacey B Gabriel, Mark J Daly, David R Thorburn & Vamsi K Mootha

doi:10.1038/ng.659

Vamsi Mootha and colleagues report high-throughput targeted sequencing of 103 candidate genes in 103 individuals with human mitochondrial complex I deficiency. They identify two genes newly associated with complex I deficiency and are able to provide genetic diagnoses in 22% of their previously unsolved cases.


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Letters

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans pp859 - 863

Ingrid L Berg, Rita Neumann, Kwan-Wood G Lam, Shriparna Sarbajna, Linda Odenthal-Hesse, Celia A May & Alec J Jeffreys

doi:10.1038/ng.658

Alec Jeffreys and colleagues report that variation at PRDM9 in humans influences sperm recombination hotspot activity, independent of a consensus binding motif, as well as meiotic genome instability.

See also: News and Views by McVean & Myers


A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B pp864 - 868

Toshimasa Yamauchi, Kazuo Hara, Shiro Maeda, Kazuki Yasuda, Atsushi Takahashi, Momoko Horikoshi, Masahiro Nakamura, Hayato Fujita, Niels Grarup, Stephane Cauchi, Daniel P K Ng, Ronald C W Ma, Tatsuhiko Tsunoda, Michiaki Kubo, Hirotaka Watada, Hiroshi Maegawa, Miki Okada-Iwabu, Masato Iwabu, Nobuhiro Shojima, Hyoung Doo Shin, Gitte Andersen, Daniel R Witte, Torben Jørgensen, Torsten Lauritzen, Annelli Sandbæk, Torben Hansen, Toshihiko Ohshige, Shintaro Omori, Ikuo Saito, Kohei Kaku, Hiroshi Hirose, Wing-Yee So, Delphine Beury, Juliana C N Chan, Kyong Soo Park, E Shyong Tai, Chikako Ito, Yasushi Tanaka, Atsunori Kashiwagi, Ryuzo Kawamori, Masato Kasuga, Philippe Froguel, Oluf Pedersen, Naoyuki Kamatani, Yusuke Nakamura & Takashi Kadowaki

doi:10.1038/ng.660

Toshimasa Yamauchi and colleagues report results of a genome-wide association study of type 2 diabetes in the Japanese population. They identify new risk loci at UBE2E2 and C2CD4A-C2CD4B and show that the latter is also associated with type 2 diabetes risk in Europeans.


Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1 pp869 - 873

Verneri Anttila, Hreinn Stefansson, Mikko Kallela, Unda Todt, Gisela M Terwindt, M Stella Calafato, Dale R Nyholt, Antigone S Dimas, Tobias Freilinger, Bertram Müller-Myhsok, Ville Artto, Michael Inouye, Kirsi Alakurtti, Mari A Kaunisto, Eija Hämäläinen, Boukje de Vries, Anine H Stam, Claudia M Weller, Axel Heinze, Katja Heinze-Kuhn, Ingrid Goebel, Guntram Borck, Hartmut Göbel, Stacy Steinberg, Christiane Wolf, Asgeir Björnsson, Gretar Gudmundsson, Malene Kirchmann, Anne Hauge, Thomas Werge, Jean Schoenen, Johan G Eriksson, Knut Hagen, Lars Stovner, H-Erich Wichmann, Thomas Meitinger, Michael Alexander, Susanne Moebus, Stefan Schreiber, Yurii S Aulchenko, Monique M B Breteler, Andre G Uitterlinden, Albert Hofman, Cornelia M van Duijn, Päivi Tikka-Kleemola, Salli Vepsäläinen, Susanne Lucae, Federica Tozzi, Pierandrea Muglia, Jeffrey Barrett, Jaakko Kaprio, Markus Färkkilä, Leena Peltonen, Kari Stefansson, John-Anker Zwart, Michel D Ferrari, Jes Olesen, Mark Daly, Maija Wessman, Arn M J M van den Maagdenberg, Martin Dichgans, Christian Kubisch, Emmanouil T Dermitzakis, Rune R Frants & Aarno Palotie for the International Headache Genetics Consortium

doi:10.1038/ng.652

Arno Palotie, Verneri Anttila and colleagues report a genome-wide association study of migraine. They identify a variant on chromosome 8q22.1 associated with risk of migraine.


A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24 pp874 - 879

Ellen L Goode, Georgia Chenevix-Trench, Honglin Song, Susan J Ramus, Maria Notaridou, Kate Lawrenson, Martin Widschwendter, Robert A Vierkant, Melissa C Larson, Susanne K Kjaer, Michael J Birrer, Andrew Berchuck, Joellen Schildkraut, Ian Tomlinson, Lambertus A Kiemeney, Linda S Cook, Jacek Gronwald, Montserrat Garcia-Closas, Martin E Gore, Ian Campbell, Alice S Whittemore, Rebecca Sutphen, Catherine Phelan, Hoda Anton-Culver, Celeste Leigh Pearce, Diether Lambrechts, Mary Anne Rossing, Jenny Chang-Claude, Kirsten B Moysich, Marc T Goodman, Thilo Dörk, Heli Nevanlinna, Roberta B Ness, Thorunn Rafnar, Claus Hogdall, Estrid Hogdall, Brooke L Fridley, Julie M Cunningham, Weiva Sieh, Valerie McGuire, Andrew K Godwin, Daniel W Cramer, Dena Hernandez, Douglas Levine, Karen Lu, Edwin S Iversen, Rachel T Palmieri, Richard Houlston, Anne M van Altena, Katja K H Aben, Leon F A G Massuger, Angela Brooks-Wilson, Linda E Kelemen, Nhu D Le, Anna Jakubowska, Jan Lubinski, Krzysztof Medrek, Anne Stafford, Douglas F Easton, Jonathan Tyrer, Kelly L Bolton, Patricia Harrington, Diana Eccles, Ann Chen, Ashley N Molina, Barbara N Davila, Hector Arango, Ya-Yu Tsai, Zhihua Chen, Harvey A Risch, John McLaughlin, Steven A Narod, Argyrios Ziogas, Wendy Brewster, Aleksandra Gentry-Maharaj, Usha Menon, Anna H Wu, Daniel O Stram, Malcolm C Pike, The Wellcome Trust Case-Control Consortium, Jonathan Beesley, Penelope M Webb, The Australian Cancer Study (Ovarian Cancer), The Australian Ovarian Cancer Study Group & Xiaoqing Chen, Arif B Ekici, Falk C Thiel, Matthias W Beckmann, Hannah Yang, Nicolas Wentzensen, Jolanta Lissowska, Peter A Fasching, Evelyn Despierre, Frederic Amant, Ignace Vergote, Jennifer Doherty, Rebecca Hein, Shan Wang-Gohrke, Galina Lurie, Michael E Carney, Pamela J Thompson, Ingo Runnebaum, Peter Hillemanns, Matthias Dürst, Natalia Antonenkova, Natalia Bogdanova, Arto Leminen, Ralf Butzow, Tuomas Heikkinen, Kari Stefansson, Patrick Sulem, Sören Besenbacher, Thomas A Sellers, Simon A Gayther & Paul D P Pharoah for the Ovarian Cancer Association Consortium (OCAC)

doi:10.1038/ng.668

Simon Gayther and colleagues report a genome wide association study for ovarian cancer. They identify two new susceptibility loci at 2q31 and 8q24 and two suggestive susceptibility loci at 3q25 and 17q21.


Common variants at 19p13 are associated with susceptibility to ovarian cancer pp880 - 884

Kelly L Bolton, Jonathan Tyrer, Honglin Song, Susan J Ramus, Maria Notaridou, Chris Jones, Tanya Sher, Aleksandra Gentry-Maharaj, Eva Wozniak, Ya-Yu Tsai, Joanne Weidhaas, Daniel Paik, David J Van Den Berg, Daniel O Stram, Celeste Leigh Pearce, Anna H Wu, Wendy Brewster, Hoda Anton-Culver, Argyrios Ziogas, Steven A Narod, Douglas A Levine, Stanley B Kaye, Robert Brown, Jim Paul, James Flanagan, Weiva Sieh, Valerie McGuire, Alice S Whittemore, Ian Campbell, Martin E Gore, Jolanta Lissowska, Hanna P Yang, Krzysztof Medrek, Jacek Gronwald, Jan Lubinski, Anna Jakubowska, Nhu D Le, Linda S Cook, Linda E Kelemen, Angela Brook-Wilson, Leon F A G Massuger, Lambertus A Kiemeney, Katja K H Aben, Anne M van Altena, Richard Houlston, Ian Tomlinson, Rachel T Palmieri, Patricia G Moorman, Joellen Schildkraut, Edwin S Iversen, Catherine Phelan, Robert A Vierkant, Julie M Cunningham, Ellen L Goode, Brooke L Fridley, Susan Kruger-Kjaer, Jan Blaeker, Estrid Hogdall, Claus Hogdall, Jenny Gross, Beth Y Karlan, Roberta B Ness, Robert P Edwards, Kunle Odunsi, Kirsten B Moyisch, Julie A Baker, Francesmary Modugno, Tuomas Heikkinenen, Ralf Butzow, Heli Nevanlinna, Arto Leminen, Natalia Bogdanova, Natalia Antonenkova, Thilo Doerk, Peter Hillemanns, Matthias Dürst, Ingo Runnebaum, Pamela J Thompson, Michael E Carney, Marc T Goodman, Galina Lurie, Shan Wang-Gohrke, Rebecca Hein, Jenny Chang-Claude, Mary Anne Rossing, Kara L Cushing-Haugen, Jennifer Doherty, Chu Chen, Thorunn Rafnar, Soren Besenbacher, Patrick Sulem, Kari Stefansson, Michael J Birrer, Kathryn L Terry, Dena Hernandez, Daniel W Cramer, Ignace Vergote, Frederic Amant, Diether Lambrechts, Evelyn Despierre, Peter A Fasching, Matthias W Beckmann, Falk C Thiel, Arif B Ekici, Xiaoqing Chen, the Australian Ovarian Cancer Study Group, the Australian Cancer Study (Ovarian Cancer), on behalf of the Ovarian Cancer Association Consortium, Sharon E Johnatty, Penelope M Webb, Jonathan Beesley, Stephen Chanock, Montserrat Garcia-Closas, Tom Sellers, Douglas F Easton, Andrew Berchuck, Georgia Chenevix-Trench, Paul D P Pharoah & Simon A Gayther

doi:10.1038/ng.666

Paul Pharoah and colleagues report a genome-wide association study for survival time after diagnosis of epithelial ovarian cancer and a parallel analysis of susceptibility to epithelial ovarian cancer. They identified two SNPs at 19p13.11 that associated with susceptibility to the serous subtype of epithelial ovarian cancer.


A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population pp885 - 892

Antonis C Antoniou, Xianshu Wang, Zachary S Fredericksen, Lesley McGuffog, Robert Tarrell, Olga M Sinilnikova, Sue Healey, Jonathan Morrison, Christiana Kartsonaki, Timothy Lesnick, Maya Ghoussaini, Daniel Barrowdale, EMBRACE, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Diana Eccles, D Gareth Evans, Ros Eeles, Louise Izatt, Carol Chu, Fiona Douglas, Joan Paterson, Dominique Stoppa-Lyonnet, Claude Houdayer, Sylvie Mazoyer, Sophie Giraud, Christine Lasset, Audrey Remenieras, Olivier Caron, Agnès Hardouin, Pascaline Berthet, GEMO Study Collaborators, Frans B L Hogervorst, Matti A Rookus, Agnes Jager, Ans van den Ouweland, Nicoline Hoogerbrugge, Rob B van der Luijt, Hanne Meijers-Heijboer, Encarna B Gómez García, HEBON, Peter Devilee, Maaike P G Vreeswijk, Jan Lubinski, Anna Jakubowska, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Bohdan Górski, Cezary Cybulski, Amanda B Spurdle, Helene Holland, kConFab, David E Goldgar, Esther M John, John L Hopper, Melissa Southey, Saundra S Buys, Mary B Daly, Mary-Beth Terry, Rita K Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Sabine Preisler-Adams, Norbert Arnold, Dieter Niederacher, Christian Sutter, Susan M Domchek, Katherine L Nathanson, Timothy Rebbeck, Joanne L Blum, Marion Piedmonte, Gustavo C Rodriguez, Katie Wakeley, John F Boggess, Jack Basil, Stephanie V Blank, Eitan Friedman, Bella Kaufman, Yael Laitman, Roni Milgrom, Irene L Andrulis, Gord Glendon, Hilmi Ozcelik, Tomas Kirchhoff, Joseph Vijai, Mia M Gaudet, David Altshuler, Candace Guiducci, SWE-BRCA, Niklas Loman, Katja Harbst, Johanna Rantala, Hans Ehrencrona, Anne-Marie Gerdes, Mads Thomassen, Lone Sunde, Paolo Peterlongo, Siranoush Manoukian, Bernardo Bonanni, Alessandra Viel, Paolo Radice, Trinidad Caldes, Miguel de la Hoya, Christian F Singer, Anneliese Fink-Retter, Mark H Greene, Phuong L Mai, Jennifer T Loud, Lucia Guidugli, Noralane M Lindor, Thomas V O Hansen, Finn C Nielsen, Ignacio Blanco, Conxi Lazaro, Judy Garber, Susan J Ramus, Simon A Gayther, Catherine Phelan, Stephen Narod, Csilla I Szabo, MOD SQUAD, Javier Benitez, Ana Osorio, Heli Nevanlinna, Tuomas Heikkinen, Maria A Caligo, Mary S Beattie, Ute Hamann, Andrew K Godwin, Marco Montagna, Cinzia Casella, Susan L Neuhausen, Beth Y Karlan, Nadine Tung, Amanda E Toland, Jeffrey Weitzel, Olofunmilayo Olopade, Jacques Simard, Penny Soucy, Wendy S Rubinstein, Adalgeir Arason, Gad Rennert, Nicholas G Martin, Grant W Montgomery, Jenny Chang-Claude, Dieter Flesch-Janys, Hiltrud Brauch, GENICA, Gianluca Severi, Laura Baglietto, Angela Cox, Simon S Cross, Penelope Miron, Sue M Gerty, William Tapper, Drakoulis Yannoukakos, George Fountzilas, Peter A Fasching, Matthias W Beckmann, Isabel dos Santos Silva, Julian Peto, Diether Lambrechts, Robert Paridaens, Thomas Rüdiger, Asta Försti, Robert Winqvist, Katri Pylkäs, Robert B Diasio, Adam M Lee, Jeanette Eckel-Passow, Celine Vachon, Fiona Blows, Kristy Driver, Alison Dunning, Paul P D Pharoah, Kenneth Offit, V Shane Pankratz, Hakon Hakonarson, Georgia Chenevix-Trench, Douglas F Easton & Fergus J Couch

doi:10.1038/ng.669

Fergus Couch and colleagues report a genome-wide association study for modifiers of breast cancer susceptibility in BRCA1 mutation carriers. They identify a locus at 19p13 associated with breast cancer risk in BRCA1 mutation carriers, and further replication studies identify this locus as associated with estrogen receptor–negative breast cancer in the general population.

See also: News and Views by Kraft & Haiman


Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations pp893 - 896

Daiki Miki, Michiaki Kubo, Atsushi Takahashi, Kyong-Ah Yoon, Jeongseon Kim, Geon Kook Lee, Jae Ill Zo, Jin Soo Lee, Naoya Hosono, Takashi Morizono, Tatsuhiko Tsunoda, Naoyuki Kamatani, Kazuaki Chayama, Takashi Takahashi, Johji Inazawa, Yusuke Nakamura & Yataro Daigo

doi:10.1038/ng.667

Yataro Daigo and colleagues report a genome-wide association study for lung adenocarcinoma in Japanese and Korean populations, identifying a susceptibility locus at TP63.


A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14 pp897 - 901

Abbas M Solouki, Virginie J M Verhoeven, Cornelia M van Duijn, Annemieke J M H Verkerk, M Kamran Ikram, Pirro G Hysi, Dominiek D G Despriet, Leonieke M van Koolwijk, Lintje Ho, Wishal D Ramdas, Monika Czudowska, Robert W A M Kuijpers, Najaf Amin, Maksim Struchalin, Yurii S Aulchenko, Gabriel van Rij, Frans C C Riemslag, Terri L Young, David A Mackey, Timothy D Spector, Theo G M F Gorgels, Jacqueline J M Willemse-Assink, Aaron Isaacs, Rogier Kramer, Sigrid M A Swagemakers, Arthur A B Bergen, Andy A L J van Oosterhout, Ben A Oostra, Fernando Rivadeneira, André G Uitterlinden, Albert Hofman, Paulus T V M de Jong, Christopher J Hammond, Johannes R Vingerling & Caroline C W Klaver

doi:10.1038/ng.663

Caroline Klaver and colleagues report a genome-wide association study for myopia and refractive error in the general population, identifying a susceptibility locus at 15q14.


A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25 pp902 - 905

Pirro G Hysi, Terri L Young, David A Mackey, Toby Andrew, Alberto Fernández-Medarde, Abbas M Solouki, Alex W Hewitt, Stuart Macgregor, Johannes R Vingerling, Yi-Ju Li, M Kamran Ikram, Lee Yiu Fai, Pak C Sham, Lara Manyes, Angel Porteros, Margarida C Lopes, Francis Carbonaro, Samantha J Fahy, Nicholas G Martin, Cornelia M van Duijn, Timothy D Spector, Jugnoo S Rahi, Eugenio Santos, Caroline C W Klaver & Christopher J Hammond

doi:10.1038/ng.664

Christopher Hammond and colleagues report a genome-wide association study for myopia and refractive error, identifying a susceptibility locus at 15q25.


Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma pp906 - 909

Gudmar Thorleifsson, G Bragi Walters, Alex W Hewitt, Gisli Masson, Agnar Helgason, Andrew DeWan, Asgeir Sigurdsson, Adalbjorg Jonasdottir, Sigurjon A Gudjonsson, Kristinn P Magnusson, Hreinn Stefansson, Dennis S C Lam, Pancy O S Tam, Gudrun J Gudmundsdottir, Laura Southgate, Kathryn P Burdon, Maria Soffia Gottfredsdottir, Micheala A Aldred, Paul Mitchell, David St Clair, David A Collier, Nelson Tang, Orn Sveinsson, Stuart Macgregor, Nicholas G Martin, Angela J Cree, Jane Gibson, Alex MacLeod, Aby Jacob, Sarah Ennis, Terri L Young, Juliana C N Chan, Wojciech S S Karwatowski, Christopher J Hammond, Kristjan Thordarson, Mingzhi Zhang, Claes Wadelius, Andrew J Lotery, Richard C Trembath, Chi Pui Pang, Josephine Hoh, Jamie E Craig, Augustine Kong, David A Mackey, Fridbert Jonasson, Unnur Thorsteinsdottir & Kari Stefansson

doi:10.1038/ng.661

Gudmar Thorleifsson and colleagues report a genome-wide association study for primary open angle glaucoma, identifying a susceptibility locus near CAV1 and CAV2.


Keratin 17 promotes epithelial proliferation and tumor growth by polarizing the immune response in skin pp910 - 914

Daryle DePianto, Michelle L Kerns, Andrzej A Dlugosz & Pierre A Coulombe

doi:10.1038/ng.665

Pierre Coulombe and colleagues show that ablation of keratin 17 in mice delays the initiation of skin tumors driven by constitutive Hedgehog signaling. Mice lacking keratin 17 show reduced skin inflammation and an altered cytokine profile, suggesting an immunomodulatory role in regulating Hedgehog-driven skin tumorigenesis.


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