Advertisement |  | | |  | TABLE OF CONTENTS
| March 2012 Volume 44, Issue 3 |  | | |  |  Editorial
News and Views
Research Highlights
Analysis
Brief Communications
Articles
Letters
| | | | | |
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| | | | Editorial |  Top | |  | | On not reinventing the wheel p233
doi:10.1038/ng.2216
An alphabet soup of organizations and initiatives across the world are concerned with identifying, collecting and evaluating disease-causing human gene variants and using them to diagnose and treat rare diseases. Despite increasing standardization of nomenclature and technology, our efforts still need coordination to produce a pipeline leading from discovery to delivery.
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| | News and Views | Top | | | | | | Research Highlights | Top | | | | Sexually dimorphic behavior genes | Acquired resistance in lung cancer | The persistence of founders | Rare variant association | HOXB13 and prostate cancer
| Analysis | Top | | | | Differential confounding of rare and common variants in spatially structured populations pp243 - 246
Iain Mathieson and Gil McVean
doi:10.1038/ng.1074
Gil McVean and Iain Mathieson report an analysis of the differential effects of population stratification on rare and common variants within association studies. They find that rare variants may show stronger stratification in some situations and that this is not corrected for by current structure methods, suggesting the need for the development of new statistical methods.
Abstract | Full Text | PDF
| | | | Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs pp247 - 250
S Hong Lee, Teresa R DeCandia, Stephan Ripke, Jian Yang, The Schizophrenia Psychiatric Genome-Wide Association Study Consortium (PGC-SCZ), The International Schizophrenia Consortium (ISC), The Molecular Genetics of Schizophrenia Collaboration (MGS), Patrick F Sullivan, Michael E Goddard, Matthew C Keller, Peter M Visscher & Naomi R Wray
doi:10.1038/ng.1108
Naomi Wray, Peter Visscher and colleagues report analyses of the common variation that contributes to schizophrenia risk within three independent case-control datasets from the Psychiatric GWAS Consortium for schizophrenia. They estimate that 23% of the variation in liability to schizophrenia is captured by SNPs on current platforms.
Abstract | Full Text | PDF
| | Brief Communications | Top | | | | Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas pp251 - 253
Gang Wu, Alberto Broniscer, Troy A McEachron, Charles Lu, Barbara S Paugh, Jared Becksfort, Chunxu Qu, Li Ding, Robert Huether, Matthew Parker, Junyuan Zhang, Amar Gajjar, Michael A Dyer, Charles G Mullighan, Richard J Gilbertson, Elaine R Mardis, Richard K Wilson, James R Downing, David W Ellison, Jinghui Zhang & Suzanne J Baker for St. Jude Children's Research Hospital–Washington University Pediatric Cancer Genome Project
doi:10.1038/ng.1102
Suzanne Baker and colleagues sequenced the whole genomes of seven pediatric brainstem glioblastomas and matched normal tissue. They found that 78% of diffuse intrinsic pontine gliomas and 22% of non-brainstem pediatric glioblastomas contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, causing a p.Lys27Met amino acid substitution in each protein.
First paragraph | Full Text | PDF
| | | | Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis pp254 - 256
Cheng Wang, Yulei Li, Lei Shi, Jie Ren, Monica Patti, Tao Wang, João R M de Oliveira, María-Jesús Sobrido, Beatriz Quintáns, Miguel Baquero, Xiaoniu Cui, Xiang-Yang Zhang, Lianqing Wang, Haibo Xu, Junhan Wang, Jing Yao, Xiaohua Dai, Juan Liu, Lu Zhang, Hongying Ma, Yong Gao, Xixiang Ma, Shenglei Feng, Mugen Liu, Qing K Wang, Ian C Forster, Xue Zhang & Jing-Yu Liu
doi:10.1038/ng.1077
Xue Zhang, Jing Yu Liu and colleagues report SLC20A2 mutations in familial idiopathic basal ganglia calcification (IBGC, also known as Fahr disease). These mutations impair the function of the type III phosphate transporter encoded by SLA20A2 and may disturb phosphate homeostasis in the body.
First paragraph | Full Text | PDF
| | | | Common variants at 11p13 are associated with susceptibility to tuberculosis pp257 - 259
Thorsten Thye, Ellis Owusu-Dabo, Fredrik O Vannberg, Reinout van Crevel, James Curtis, Edhyana Sahiratmadja, Yanina Balabanova, Christa Ehmen, Birgit Muntau, Gerd Ruge, Jürgen Sievertsen, John Gyapong, Vladyslav Nikolayevskyy, Philip C Hill, Giorgio Sirugo, Francis Drobniewski, Esther van de Vosse, Melanie Newport, Bachti Alisjahbana, Sergey Nejentsev, Tom H M Ottenhoff, Adrian V S Hill, Rolf D Horstmann & Christian G Meyer
doi:10.1038/ng.1080
Christian Meyer and colleagues follow a previously reported GWAS for tuberculosis susceptibility with association analyses using 1000 Genomes Project imputation in two African studies and replication in Indonesian and Russian cohorts. They identify a new tuberculosis susceptibility locus on chromosome 11p13.
First paragraph | Full Text | PDF
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| | | | Articles | Top | | | | Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways pp260 - 268
Lisette Stolk, John R B Perry, Daniel I Chasman, Chunyan He, Massimo Mangino, Patrick Sulem, Maja Barbalic, Linda Broer, Enda M Byrne, Florian Ernst, Tõnu Esko, Nora Franceschini, Daniel F Gudbjartsson, Jouke-Jan Hottenga, Peter Kraft, Patrick F McArdle, Eleonora Porcu, So-Youn Shin, Albert V Smith, Sophie van Wingerden, Guangju Zhai, Wei V Zhuang, Eva Albrecht, Behrooz Z Alizadeh, Thor Aspelund, Stefania Bandinelli, Lovorka Barac Lauc, Jacques S Beckmann, Mladen Boban, Eric Boerwinkle, Frank J Broekmans, Andrea Burri, Harry Campbell, Stephen J Chanock, Constance Chen, Marilyn C Cornelis, Tanguy Corre, Andrea D Coviello, Pio d'Adamo, Gail Davies, Ulf de Faire, Eco J C de Geus, Ian J Deary, George V Z Dedoussis, Panagiotis Deloukas, Shah Ebrahim, Gudny Eiriksdottir, Valur Emilsson, Johan G Eriksson, Bart C J M Fauser, Liana Ferreli, Luigi Ferrucci, Krista Fischer, Aaron R Folsom, Melissa E Garcia, Paolo Gasparini, Christian Gieger, Nicole Glazer, Diederick E Grobbee, Per Hall, Toomas Haller, Susan E Hankinson, Merli Hass, Caroline Hayward, Andrew C Heath, Albert Hofman, Erik Ingelsson, A Cecile J W Janssens, Andrew D Johnson, David Karasik, Sharon L R Kardia, Jules Keyzer, Douglas P Kiel, Ivana Kolcic, Zoltán Kutalik, Jari Lahti, Sandra Lai, Triin Laisk, Joop S E Laven, Debbie A Lawlor, Jianjun Liu, Lorna M Lopez, Yvonne V Louwers, Patrik K E Magnusson, Mara Marongiu, Nicholas G Martin, Irena Martinovic Klaric, Corrado Masciullo, Barbara McKnight, Sarah E Medland, David Melzer, Vincent Mooser, Pau Navarro, Anne B Newman, Dale R Nyholt, N Charlotte Onland-Moret, Aarno Palotie, Guillaume Paré, Alex N Parker, Nancy L Pedersen, Petra H M Peeters, Giorgio Pistis, Andrew S Plump, Ozren Polasek, Victor J M Pop, Bruce M Psaty, Katri Räikkönen, Emil Rehnberg, Jerome I Rotter, Igor Rudan, Cinzia Sala, Andres Salumets, Angelo Scuteri, Andrew Singleton, Jennifer A Smith, Harold Snieder, Nicole Soranzo, Simon N Stacey, John M Starr, Maria G Stathopoulou, Kathleen Stirrups, Ronald P Stolk, Unnur Styrkarsdottir, Yan V Sun, Albert Tenesa, Barbara Thorand, Daniela Toniolo, Laufey Tryggvadottir, Kim Tsui, Sheila Ulivi, Rob M van Dam, Yvonne T van der Schouw, Carla H van Gils, Peter van Nierop, Jacqueline M Vink, Peter M Visscher, Marlies Voorhuis, Gérard Waeber, Henri Wallaschofski, H Erich Wichmann, Elisabeth Widen, Colette J M Wijnands-van Gent, Gonneke Willemsen, James F Wilson, Bruce H R Wolffenbuttel, Alan F Wright, Laura M Yerges-Armstrong, Tatijana Zemunik, Lina Zgaga, M Carola Zillikens, Marek Zygmunt, The LifeLines Cohort Study, Alice M Arnold, Dorret I Boomsma, Julie E Buring, Laura Crisponi, Ellen W Demerath, Vilmundur Gudnason, Tamara B Harris, Frank B Hu, David J Hunter, Lenore J Launer, Andres Metspalu, Grant W Montgomery, Ben A Oostra, Paul M Ridker, Serena Sanna, David Schlessinger, Tim D Spector, Kari Stefansson, Elizabeth A Streeten, Unnur Thorsteinsdottir, Manuela Uda, André G Uitterlinden, Cornelia M van Duijn, Henry Völzke, Anna Murray, Joanne M Murabito, Jenny A Visser & Kathryn L Lunetta
doi:10.1038/ng.1051
Kathryn Lunetta and colleagues report a meta-analysis of 22 genome-wide association studies for age at menopause. They identify 13 loci newly associated with age at natural menopause, including several candidate genes with roles in DNA repair and immune function.
Abstract | Full Text | PDF
| | | | Genome-wide association study identifies multiple loci influencing human serum metabolite levels pp269 - 276
Johannes Kettunen, Taru Tukiainen, Antti-Pekka Sarin, Alfredo Ortega-Alonso, Emmi Tikkanen, Leo-Pekka Lyytikäinen, Antti J Kangas, Pasi Soininen, Peter Würtz, Kaisa Silander, Danielle M Dick, Richard J Rose, Markku J Savolainen, Jorma Viikari, Mika Kähönen, Terho Lehtimäki, Kirsi H Pietiläinen, Michael Inouye, Mark I McCarthy, Antti Jula, Johan Eriksson, Olli T Raitakari, Veikko Salomaa, Jaakko Kaprio, Marjo-Riitta Järvelin, Leena Peltonen, Markus Perola, Nelson B Freimer, Mika Ala-Korpela, Aarno Palotie & Samuli Ripatti
doi:10.1038/ng.1073
Samuli Ripatti and colleagues report a genome-wide association study for human serum metabolites using NMR of serum samples from over 8,000 Finnish individuals. They identify 31 loci associated with at least one of 216 serum metabolic measures.
Abstract | Full Text | PDF
| | | | Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility pp277 - 284
Dewi Astuti, Mark R Morris, Wendy N Cooper, Raymond H J Staals, Naomi C Wake, Graham A Fews, Harmeet Gill, Dean Gentle, Salwati Shuib, Christopher J Ricketts, Trevor Cole, Anthonie J van Essen, Richard A van Lingen, Giovanni Neri, John M Opitz, Patrick Rump, Irene Stolte-Dijkstra, Ferenc Müller, Ger J M Pruijn, Farida Latif & Eamonn R Maher
doi:10.1038/ng.1071
Eamonn Maher and colleagues report germline mutations in DIS3L2 causing the Perlman syndrome of overgrowth and susceptibility to Wilms tumor. DIS3L2 encodes a protein with exoribonuclease activity in the RNA exosome complex.
Abstract | Full Text | PDF
| | | | Chromosome-scale selective sweeps shape Caenorhabditis elegans genomic diversity pp285 - 290
Erik C Andersen, Justin P Gerke, Joshua A Shapiro, Jonathan R Crissman, Rajarshi Ghosh, Joshua S Bloom, Marie-Anne Félix & Leonid Kruglyak
doi:10.1038/ng.1050
Leonid Kruglyak and colleagues report high-throughput selective sequencing of a worldwide collection of 200 wild C. elegans strains, providing a comprehensive characterization of genetic variation in this species. They find that chromosome-scale selective sweeps have acted to reduce genetic variation and shape the C. elegans population structure in recent history.
Abstract | Full Text | PDF
See also: News and Views by Phillips
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| | | | Letters | Top | | | | Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis pp291 - 296
Soumya Raychaudhuri, Cynthia Sandor, Eli A Stahl, Jan Freudenberg, Hye-Soon Lee, Xiaoming Jia, Lars Alfredsson, Leonid Padyukov, Lars Klareskog, Jane Worthington, Katherine A Siminovitch, Sang-Cheol Bae, Robert M Plenge, Peter K Gregersen and Paul I W de Bakker
doi:10.1038/ng.1076
Soumya Raychaudhuri, Paul de Bakker and colleagues report fine mapping of the rheumatoid arthritis associations within the MHC by combining genome-wide SNP data and imputation of classical HLA alleles and SNPs across the MHC. They identify five amino acid positions in HLA-DRβ1, HLA-B and HLA-DPβ1 that together can explain most of the MHC association to seropositive rheumatoid arthritis.
First paragraph | Full Text | PDF
See also: News and Views by Barrett
| | | | Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes pp297 - 301
Amélie Bonnefond, Nathalie Clément, Katherine Fawcett, Loïc Yengo, Emmanuel Vaillant, Jean-Luc Guillaume, Aurélie Dechaume, Felicity Payne, Ronan Roussel, Sébastien Czernichow, Serge Hercberg, Samy Hadjadj, Beverley Balkau, Michel Marre, Olivier Lantieri, Claudia Langenberg, Nabila Bouatia-Naji, The Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC), Guillaume Charpentier, Martine Vaxillaire, Ghislain Rocheleau, Nicholas J Wareham, Robert Sladek, Mark I McCarthy, Christian Dina, Inês Barroso, Ralf Jockers & Philippe Froguel
doi:10.1038/ng.1053
Philippe Froguel, Ralf Jockers and colleagues report the functional characterization of 40 rare protein-coding variants of the MTNR1B gene (encoding melatonin receptor 1B, also known as MT2). They find that functionally impaired MT2 melatonin receptors confer higher risk to type 2 diabetes in Europeans.
First paragraph | Full Text | PDF
| | | | Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations pp302 - 306
Yukinori Okada, Michiaki Kubo, Hiroko Ohmiya, Atsushi Takahashi, Natsuhiko Kumasaka, Naoya Hosono, Shiro Maeda, Wanqing Wen, Rajkumar Dorajoo, Min Jin Go, Wei Zheng, Norihiro Kato, Jer-Yuarn Wu, Qi Lu, GIANT consortium, Tatsuhiko Tsunoda, Kazuhiko Yamamoto, Yusuke Nakamura, Naoyuki Kamatani & Toshihiro Tanaka
doi:10.1038/ng.1086
Yukinori Okada and colleagues report a genome-wide association study for body mass index (BMI) in east Asians. They identify genetic variants associated with BMI near CDKAL1 and KLF9.
First paragraph | Full Text | PDF
| | | | Meta-analysis identifies common variants associated with body mass index in east Asians pp307 - 311
Wanqing Wen, Yoon-Shin Cho, Wei Zheng, Rajkumar Dorajoo, Norihiro Kato, Lu Qi, Chien-Hsiun Chen, Ryan J Delahanty, Yukinori Okada, Yasuharu Tabara, Dongfeng Gu, Dingliang Zhu, Christopher A Haiman, Zengnan Mo, Yu-Tang Gao, Seang-Mei Saw, Min-Jin Go, Fumihiko Takeuchi, Li-Ching Chang, Yoshihiro Kokubo, Jun Liang, Mei Hao, Loïc Le Marchand, Yi Zhang, Yanling Hu, Tien-Yin Wong, Jirong Long, Bok-Ghee Han, Michiaki Kubo, Ken Yamamoto, Mei-Hsin Su, Tetsuro Miki, Brian E Henderson, Huaidong Song, Aihua Tan, Jiang He, Daniel P-K Ng, Qiuyin Cai, Tatsuhiko Tsunoda, Fuu-Jen Tsai, Naoharu Iwai, Gary K Chen, Jiajun Shi, Jianfeng Xu, Xueling Sim, Yong-Bing Xiang, Shiro Maeda, Rick T H Ong, Chun Li, Yusuke Nakamura, Tin Aung, Naoyuki Kamatani, Jian-Jun Liu, Wei Lu, Mitsuhiro Yokota, Mark Seielstad, Cathy S J Fann, The Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Jer-Yuarn Wu, Jong-Young Lee, Frank B Hu, Toshihiro Tanaka, E Shyong Tai & Xiao-Ou Shu
doi:10.1038/ng.1087
Xiao-Ou Shu and colleagues report a meta-analysis of genome-wide association studies for body mass index (BMI) in east Asians. They identify three new genetic loci associated with BMI.
First paragraph | Full Text | PDF
| | | | Genome-wide association analysis identifies three new breast cancer susceptibility loci pp312 - 318
Maya Ghoussaini, Olivia Fletcher, Kyriaki Michailidou, Clare Turnbull, Marjanka K Schmidt, Ed Dicks, Joe Dennis, Qin Wang, Manjeet K Humphreys, Craig Luccarini, Caroline Baynes, Don Conroy, Melanie Maranian, Shahana Ahmed, Kristy Driver, Nichola Johnson, Nicholas Orr, Isabel dos Santos Silva, Quinten Waisfisz, Hanne Meijers-Heijboer, Andre G Uitterlinden, Fernando Rivadeneira, Netherlands Collaborative Group on Hereditary Breast and Ovarian Cancer (HEBON), Per Hall, Kamila Czene, Astrid Irwanto, Jianjun Liu, Heli Nevanlinna, Kristiina Aittomäki, Carl Blomqvist, Alfons Meindl, Rita K Schmutzler, Bertram Müller-Myhsok, Peter Lichtner, Jenny Chang-Claude, Rebecca Hein, Stefan Nickels, Dieter Flesch-Janys, Helen Tsimiklis, Enes Makalic, Daniel Schmidt, Minh Bui, John L Hopper, Carmel Apicella, Daniel J Park, Melissa Southey, David J Hunter, Stephen J Chanock, Annegien Broeks, Senno Verhoef, Frans B L Hogervorst, Peter A Fasching, Michael P Lux, Matthias W Beckmann, Arif B Ekici, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Frederik Marme, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Pascal Guénel, Thérèse Truong, Emilie Cordina-Duverger, Florence Menegaux, Stig E Bojesen, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Roger L Milne, M Rosario Alonso, Anna González-Neira, Javier Benítez, Hoda Anton-Culver, Argyrios Ziogas, Leslie Bernstein, Christina Clarke Dur, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Familial Breast Cancer Study (FBCS), Christina Justenhoven, Hiltrud Brauch, Thomas Brüning, The Gene Environment Interaction of Breast Cancer in Germany (GENICA) Network, Shan Wang-Gohrke, Ursula Eilber, Thilo Dörk, Peter Schürmann, Michael Bremer, Peter Hillemanns, Natalia V Bogdanova, Natalia N Antonenkova, Yuri I Rogov, Johann H Karstens, Marina Bermisheva, Darya Prokofieva, Elza Khusnutdinova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Diether Lambrechts, Betul T Yesilyurt, Giuseppe Floris, Karin Leunen, Siranoush Manoukian, Bernardo Bonanni, Stefano Fortuzzi, Paolo Peterlongo, Fergus J Couch, Xianshu Wang, Kristen Stevens, Adam Lee, Graham G Giles, Laura Baglietto, Gianluca Severi, Catriona McLean, Grethe Grenaker Alnæs, Vessela Kristensen, Anne-Lise Børrensen-Dale, Esther M John, Alexander Miron, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Saila Kauppila, Irene L Andrulis, Gord Glendon, Anna Marie Mulligan, Peter Devilee, Christie J van Asperen, Rob A E M Tollenaar, Caroline Seynaeve, Jonine D Figueroa, Montserrat Garcia-Closas, Louise Brinton, Jolanta Lissowska, Maartje J Hooning, Antoinette Hollestelle, Rogier A Oldenburg, Ans M W van den Ouweland, Angela Cox, Malcolm W R Reed, Mitul Shah, Ania Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Michael Jones, Minouk Schoemaker, Alan Ashworth, Anthony Swerdlow, Jonathan Beesley, Xiaoqing Chen, kConFab Investigators, Australian Ovarian Cancer Study Group, Kenneth R Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Arkom Chaiwerawattana, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Chen-Yang Shen, Jyh-Cherng Yu, Pei-Ei Wu, Chia-Ni Hsiung, Annie Perkins, Ruth Swann, Louiza Velentzis, Diana M Eccles, Will J Tapper, Susan M Gerty, Nikki J Graham, Bruce A J Ponder, Georgia Chenevix-Trench, Paul D P Pharoah, Mark Lathrop, Alison M Dunning, Nazneen Rahman, Julian Peto & Douglas F Easton
doi:10.1038/ng.1049
Douglas Easton and colleagues report a genome-wide association analyses for breast cancer in ~70,000 cases and ~68,000 controls. They identify three new breast cancer susceptibility loci, two of which show association only with estrogen receptor-positive disease.
First paragraph | Full Text | PDF
| | | | Discovery of common variants associated with low TSH levels and thyroid cancer risk pp319 - 322
Julius Gudmundsson, Patrick Sulem, Daniel F Gudbjartsson, Jon G Jonasson, Gisli Masson, Huiling He, Aslaug Jonasdottir, Asgeir Sigurdsson, Simon N Stacey, Hrefna Johannsdottir, Hafdis Th Helgadottir, Wei Li, Rebecca Nagy, Matthew D Ringel, Richard T Kloos, Marieke C H de Visser, Theo S Plantinga, Martin den Heijer, Esperanza Aguillo, Angeles Panadero, Enrique Prats, Almudena Garcia-Castaño, Ana De Juan, Fernando Rivera, G Bragi Walters, Hjordis Bjarnason, Laufey Tryggvadottir, Gudmundur I Eyjolfsson, Unnur S Bjornsdottir, Hilma Holm, Isleifur Olafsson, Kristleifur Kristjansson, Hoskuldur Kristvinsson, Olafur T Magnusson, Gudmar Thorleifsson, Jeffrey R Gulcher, Augustine Kong, Lambertus ALM Kiemeney, Thorvaldur Jonsson, Hannes Hjartarson, Jose I Mayordomo, Romana T Netea-Maier, Albert de la Chapelle, Jon Hrafnkelsson, Unnur Thorsteinsdottir, Thorunn Rafnar & Kari Stefansson
doi:10.1038/ng.1046
Julius Gudmundsson and colleagues report a genome-wide association study for circulating levels of thyroid-stimulating hormone in 27,758 individuals not known to have thyroid cancer. They follow with thyroid cancer association analyses and identify common variants at three loci newly associated with susceptibility to thyroid cancer.
First paragraph | Full Text | PDF
| | | | Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma pp323 - 327
Sophie Postel-Vinay, Amélie S Véron, Franck Tirode, Gaelle Pierron, Stéphanie Reynaud, Heinrich Kovar, Odile Oberlin, Eve Lapouble, Stelly Ballet, Carlo Lucchesi, Udo Kontny, Anna González-Neira, Piero Picci, Javier Alonso, Ana Patino-Garcia, Brigitte Bressac de Paillerets, Karine Laud, Christian Dina, Philippe Froguel, Françoise Clavel-Chapelon, Francois Doz, Jean Michon, Stephen J Chanock, Gilles Thomas, David G Cox & Olivier Delattre
doi:10.1038/ng.1085
Olivier Delattre and colleagues report a genome-wide association study of Ewing sarcoma. They identify common variants near TARDBP and EGR2 influencing susceptibility to this rare pediatric tumor.
First paragraph | Full Text | PDF
| | | | Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke pp328 - 333
The International Stroke Genetics Consortium (ISGC), the Wellcome Trust Case Control Consortium 2 (WTCCC2), Céline Bellenguez, Steve Bevan, Andreas Gschwendtner, Chris C A Spencer, Annette I Burgess, Matti Pirinen, Caroline A Jackson, Matthew Traylor, Amy Strange, Zhan Su, Gavin Band, Paul D Syme, Rainer Malik, Joanna Pera, Bo Norrving, Robin Lemmens, Colin Freeman, Renata Schanz, Tom James, Deborah Poole, Lee Murphy, Helen Segal, Lynelle Cortellini, Yu-Ching Cheng, Daniel Woo, Michael A Nalls, Bertram Müller-Myhsok, Christa Meisinger, Udo Seedorf, Helen Ross-Adams, Steven Boonen, Dorota Wloch-Kopec, Valerie Valant, Julia Slark, Karen Furie, Hossein Delavaran, Cordelia Langford, Panos Deloukas, Sarah Edkins, Sarah Hunt, Emma Gray, Serge Dronov, Leena Peltonen, Solveig Gretarsdottir, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Kari Stefansson, Giorgio B Boncoraglio, Eugenio A Parati, John Attia, Elizabeth Holliday, Chris Levi, Maria-Grazia Franzosi, Anuj Goel, Anna Helgadottir, Jenefer M Blackwell, Elvira Bramon, Matthew A Brown, Juan P Casas, Aiden Corvin, Audrey Duncanson, Janusz Jankowski, Christopher G Mathew, Colin N A Palmer, Robert Plomin, Anna Rautanen, Stephen J Sawcer, Richard C Trembath, Ananth C Viswanathan, Nicholas W Wood, Bradford B Worrall, Steven J Kittner, Braxton D Mitchell, Brett Kissela, James F Meschia, Vincent Thijs, Arne Lindgren, Mary Joan Macleod, Agnieszka Slowik, Matthew Walters, Jonathan Rosand, Pankaj Sharma, Martin Farrall, Cathie L M Sudlow, Peter M Rothwell, Martin Dichgans, Peter Donnelly & Hugh S Markus
doi:10.1038/ng.1081
Hugh Markus, Peter Donnelly and colleagues report a genome-wide association study for ischemic stroke. They identify a SNP in HDAC9, a histone deacetylase gene, that is associated with large vessel ischemic stroke and suggest subtype-specific associations to ischemic stroke.
First paragraph | Full Text | PDF
| | | | Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis pp334 - 337
Bjarke Feenstra, Frank Geller, Camilla Krogh, Mads V Hollegaard, Sanne Gørtz, Heather A Boyd, Jeffrey C Murray, David M Hougaard & Mads Melbye
doi:10.1038/ng.1067
Bjark Feenstra, Mads Melbye and colleagues report the association of three SNPs with infantile hypertrophic pyloric stenosis, a common digestive system disorder in newborns. The associated SNPs are located near MBNL1 and NKX2-5.
First paragraph | Full Text | PDF
| | | | Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus pp338 - 342
Beverley H Anderson, Paul R Kasher, Josephine Mayer, Marcin Szynkiewicz, Emma M Jenkinson, Sanjeev S Bhaskar, Jill E Urquhart, Sarah B Daly, Jonathan E Dickerson, James O'Sullivan, Elisabeth Oppliger Leibundgut, Joanne Muter, Ghada M H Abdel-Salem, Riyana Babul-Hirji, Peter Baxter, Andrea Berger, Luisa Bonafé, Janice E Brunstom-Hernandez, Johannes A Buckard, David Chitayat, Wui K Chong, Duccio M Cordelli, Patrick Ferreira, Joel Fluss, Ewan H Forrest, Emilio Franzoni, Caterina Garone, Simon R Hammans, Gunnar Houge, Imelda Hughes, Sebastien Jacquemont, Pierre-Yves Jeannet, Rosalind J Jefferson, Ram Kumar, Georg Kutschke, Staffan Lundberg, Charles M Lourenço, Ramesh Mehta, Sakkubai Naidu, Ken K Nischal, Luís Nunes, Katrin Õunap, Michel Philippart, Prab Prabhakar, Sarah R Risen, Raphael Schiffmann, Calvin Soh, John B P Stephenson, Helen Stewart, Jon Stone, John L Tolmie, Marjo S van der Knaap, Jose P Vieira, Catheline N Vilain, Emma L Wakeling, Vanessa Wermenbol, Andrea Whitney, Simon C Lovell, Stefan Meyer, John H Livingston, Gabriela M Baerlocher, Graeme C M Black, Gillian I Rice & Yanick J Crow
doi:10.1038/ng.1084
Yanick Crow and colleagues show that mutations in CTC1, which encodes a homolog of a yeast telomere maintenance protein, cause Coats plus, a highly pleiotropic disorder sharing phenotypic overlap with dyskeratosis congenita and other disorders of telomere maintenance.
First paragraph | Full Text | PDF
See also: News and Views by Savage
| | | | Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis pp343 - 347
Paul Delgado-Olguín, Yu Huang, Xue Li, Danos Christodoulou, Christine E Seidman, J G Seidman, Alexander Tarakhovsky & Benoit G Bruneau
doi:10.1038/ng.1068
Benoit Bruneau and colleagues show that Ezh2 stabilizes cardiac gene expression and prevents postnatal heart pathology by repressing the homeodomain transcription factor Six1 in differentiating cardiac progenitors. Their results suggest that epigenetic dysregulation in embryonic progenitor cells can predispose to adult disease.
First paragraph | Full Text | PDF
| | | | Periodic stripe formation by a Turing mechanism operating at growth zones in the mammalian palate pp348 - 351
Andrew D Economou, Atsushi Ohazama, Thantrira Porntaveetus, Paul T Sharpe, Shigeru Kondo, M Albert Basson, Amel Gritli-Linde, Martyn T Cobourne and Jeremy B A Green
doi:10.1038/ng.1090
Jeremy Green and colleagues determine that the mechanism establishing the pattern of rugae on the embryonic vertebrate palate is an activator-inhibitor reaction-diffusion mechanism rather than an alternative pattern signaling system, such as lateral inhibition.
First paragraph | Full Text | PDF
| | | | Pneumococcal genome sequencing tracks a vaccine escape variant formed through a multi-fragment recombination event pp352 - 355
Tanya Golubchik, Angela B Brueggemann, Teresa Street, Robert E Gertz Jr, Chris C A Spencer, Thien Ho, Eleni Giannoulatou, Ruth Link-Gelles, Rosalind M Harding, Bernard Beall, Tim E A Peto, Matthew R Moore, Peter Donnelly, Derrick W Crook and Rory Bowden
doi:10.1038/ng.1072
Peter Donnelly and colleagues report sequencing of 62 pneumococcal isolates sampled from a CDC surveillance program. They characterize five independent instances of vaccine escape recombination through capsular switches, providing insight into the role of recombination in remodeling pneumococcal genomes under selective pressure and in the population dynamics of this pathogen.
First paragraph | Full Text | PDF
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