Press releases
Please quote Nature Genetics as the source of these items.
The May 2008 issue of Nature Genetics is available online.
May 2008
New genetic risk factors for type 2 diabetes
At least six regions of the human genome harbor variants that predispose to type 2 diabetes, according to a study published online this week in Nature Genetics.
Recent genome-wide association studies have identified genetic variants that influence risk of type 2 diabetes, although together they explain just a small fraction of the genetic contribution to the disease. A large consortium of scientists has carried out a 'meta-analysis' combining three previously published studies in order to identify additional risk factors. They found six variants to be strongly associated with type 2 diabetes, and each was replicated in an independent sample of more then 50,000 individuals. Although the particular genes affected by these variants will require additional genetic mapping, the candidates provide potential new insights into the pathogenesis of the disease.
All told the results suggest that genome scans of tens of thousands of individuals will be required to complete the picture of the genetic underpinnings of common, complex diseases.
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
Eleftheria Zeggini, Laura J Scott, Richa Saxena, Benjamin F Voight, Jonathan L Marchini, Tianle Hu, Paul IW de Bakker, Gonçalo R Abecasis, Peter Almgren, Gitte Andersen, Kristin Ardlie, Kristina Bengtsson Boström, Richard N Bergman, Lori L Bonnycastle, Knut Borch-Johnsen, Noël P Burtt, Hong Chen, Peter S Chines, Mark J Daly, Parimal Deodhar, Chia-Jen Ding, Alex S F Doney, William L Duren, Katherine S Elliott, Michael R Erdos, Timothy M Frayling, Rachel M Freathy, Lauren Gianniny, Harald Grallert, Niels Grarup, Christopher J Groves, Candace Guiducci, Torben Hansen, Christian Herder, Graham A Hitman, Thomas E Hughes, Bo Isomaa, Anne U Jackson, Torben Jørgensen, Augustine Kong, Kari Kubalanza, Finny G Kuruvilla, Johanna Kuusisto, Claudia Langenberg, Hana Lango, Torsten Lauritzen, Yun Li, Cecilia M Lindgren, Valeriya Lyssenko, Amanda F Marvelle, Christa Meisinger, Kristian Midthjell, Karen L Mohlke, Mario A Morken, Andrew D Morris, Narisu Narisu, Peter Nilsson, Katharine R Owen, Colin NA Palmer, Felicity Payne, John R B Perry, Elin Pettersen, Carl Platou, Inga Prokopenko, Lu Qi, Li Qin, Nigel W Rayner, Matthew Rees, Jeffrey J Roix, Anelli Sandbæk, Beverley Shields, Marketa Sjögren, Valgerdur Steinthorsdottir, Heather M Stringham, Amy J Swift, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Nicholas J Timpson, Tiinamaija Tuomi, Jaakko Tuomilehto, Mark Walker, Richard M Watanabe, Michael N Weedon, Cristen J Willer, Wellcome Trust Case Control Consortium, Thomas Illig, Kristian Hveem, Frank B Hu, Markku Laakso, Kari Stefansson, Oluf Pedersen, Nicholas J Wareham, Inês Barroso, Andrew T Hattersley, Francis S Collins, Leif Groop, Mark I McCarthy, Michael Boehnke & David Altshuler
Published online: 30 March 2008 | doi 10.1038/ng.120
Colorectal cancer risk variants
Three new variants are associated with increased risk of colorectal cancer, according to two studies published online this week in Nature Genetics. The research also uncovers the first population-specific susceptibility allele for the disease.
Malcolm Dunlop and colleagues carried out a genome-wide association study of individuals with and without colorectal cancer, and identified a variant on chromosome 11 as increasing risk of the disease by approximately 10%. The variant seems to have a stronger effect on susceptibility to rectal cancer than colon cancer. The authors also observe that Japanese individuals carrying the risk variant do not show an increased risk of colon cancer, although they do have an increased risk of rectal cancer. This is the first report of a population-specific susceptibility allele for colorectal cancer.
In a parallel study, Richard Houlston and colleagues report two new risk loci for the disease on chromosomes 8 and 10. The risk variant on chromosome 8 is near the gene EIF3H, which is known to be overexpressed in other cancers.
Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
Albert Tenesa, Susan M Farrington, James G D Prendergast, Mary E Porteous, Marion Walker, Naila Haq, Rebecca A Barnetson, Evropi Theodoratou, Roseanne Cetnarskyj, Nicola Cartwright, Colin Semple, Andrew J Clark, Fiona J L Reid, Lorna A Smith, Kostas Kavoussanakis, Thibaud Koessler, Paul D P Pharoah, Stephan Buch, Clemens Schafmayer, Jürgen Tepel, Stefan Schreiber, Henry Völzke, Carsten O Schmidt, Jochen Hampe, Jenny Chang-Claude, Michael Hoffmeister, Hermann Brenner, Stefan Wilkening, Federico Canzian, Gabriel Capella, Victor Moreno, Ian J Deary, John M Starr, Ian P M Tomlinson, Zoe Kemp, Kimberley Howarth, Luis Carvajal-Carmona, Emily Webb, Peter Broderick, Jayaram Vijayakrishnan, Richard S Houlston, Gad Rennert, Dennis Ballinger, Laura Rozek, Stephen B Gruber, Koichi Matsuda, Tomohide Kidokoro, Yusuke Nakamura, Brent W Zanke, Celia M T Greenwood, Jagadish Rangrej, Rafal Kustra, Alexandre Montpetit, Thomas J Hudson, Steven Gallinger, Harry Campbell & Malcolm G Dunlop
Published online: 30 March 2008 | doi 10.1038/ng.133
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
Ian PM Tomlinson, Emily Webb, Luis Carvajal-Carmona, Peter Broderick, Kimberley Howarth, Alan M Pittman, Sarah Spain, Steven Lubbe, Axel Walther, Kate Sullivan, Emma Jaeger, Sarah Fielding, Andrew Rowan, Jayaram Vijayakrishnan, Enric Domingo, Ian Chandler, Zoe Kemp, Mobshra Qureshi, Susan M Farrington, Albert Tenesa, James GD Prendergast, Rebecca A Barnetson, Steven Penegar, Ella Barclay, Wendy Wood, Lynn Martin, Maggie Gorman, Huw Thomas, Julian Peto, D Timothy Bishop, Richard Gray, Eamonn R Maher, Anneke Lucassen, David Kerr, D Gareth R Evans, The CORGI Consortium, Clemens Schafmayer, Stephan Buch, Henry Völzke, Jochen Hampe, Stefan Schreiber, Ulrich John, Thibaud Koessler, Paul Pharoah, Tom van Wezel, Hans Morreau, Juul T Wijnen, John L Hopper, Melissa C Southey, Graham G Giles, Gianluca Severi, Sergi Castellví-Bel, Clara Ruiz-Ponte, Angel Carracedo, Antoni Castells, The EPICOLON Consortium, Asta Försti, Kari Hemminki, Pavel Vodicka, Alessio Naccarati, Lara Lipton, Judy WC Ho, K K Cheng, Pak C Sham, J Luk, Jose AG Agúndez, Jose M Ladero, Miguel de la Hoya, Trinidad Caldés, Iina Niittymäki, Sari Tuupanen, Auli Karhu, Lauri Aaltonen, Jean-Baptiste Cazier, Harry Campbell, Malcolm G Dunlop & Richard S Houlston
Published online: 30 March 2008 | doi 10.1038/ng.111
Common genetic variants influencing adult height
Scientists have discovered dozens of common genetic variants influencing adult human height, according to three studies published online this week in Nature Genetics.
Recently, two independent studies reported that common variants near two genes, HMGA2 and GDF5, are associated with variation in human height in the general population. Using substantially larger sample sizes, three groups now report the discovery of dozens of additional variants influencing adult height.
The newly discovered variants explain up to 4% of normal height variation in populations of European ancestry. Individuals carrying predominantly ‘tall’ versions of these variants are, on average, 5 cm taller than individuals carrying only a few of the ‘tall’ variants.
Many of the height-associated variants reside near genes known or suspected to have a role in skeletal development. Others reside near genes that control how cells grow and divide.
Height is considered a classic complex trait with a strong heritable component. Therefore, understanding the genetic basis of this model trait may shed light on the genetic architecture of other traits, including those influencing risk of common diseases.
Genome-wide association analysis identifies 20 loci that influence adult height
Michael N Weedon, Hana Lango, Cecilia M Lindgren, Chris Wallace, David M Evans, Massimo Mangino, Rachel M Freathy, John R B Perry, Suzanne Stevens, Alistair S Hall, Nilesh J Samani, Beverly Shields, Inga Prokopenko, Martin Farrall, Anna Dominiczak, Diabetes Genetics Initiative, The Wellcome Trust Case Control Consortium, Toby Johnson, Sven Bergmann, Jacques S Beckmann, Peter Vollenweider, Dawn M Waterworth, Vincent Mooser, Colin N A Palmer, Andrew D Morris, Willem H Ouwehand, Cambridge GEM Consortium, Mark Caulfield, Patricia B Munroe, Andrew T Hattersley, Mark I McCarthy & Timothy M Frayling
Published online: 6 April 2008 | doi 10.1038/ng.121
Many sequence variants affecting diversity of adult human height
Daniel F Gudbjartsson, G Bragi Walters, Gudmar Thorleifsson, Hreinn Stefansson, Bjarni V Halldorsson, Pasha Zusmanovich, Patrick Sulem, Steinunn Thorlacius, Arnaldur Gylfason, Stacy Steinberg, Anna Helgadottir, Andres Ingason, Valgerdur Steinthorsdottir, Elinborg J Olafsdottir, Gudridur H Olafsdottir, Thorvaldur Jonsson, Knut Borch-Johnsen, Torben Hansen, Gitte Andersen, Torben Jorgensen, Oluf Pedersen, Katja K Aben, J Alfred Witjes, Dorine W Swinkels, Martin den Heijer, Barbara Franke, Andre L M Verbeek, Diane M Becker, Lisa R Yanek, Lewis C Becker, Laufey Tryggvadottir, Thorunn Rafnar, Jeffrey Gulcher, Lambertus A Kiemeney, Augustine Kong, Unnur Thorsteinsdottir & Kari Stefansson
Published online: 6 April 2008 | doi 10.1038/ng.122
Identification of ten loci associated with height highlights new biological pathways in human growth
Guillaume Lettre, Anne U Jackson, Christian Gieger, Fredrick R Schumacher, Sonja I Berndt, Serena Sanna, Susana Eyheramendy, Benjamin F Voight, Johannah L Butler, Candace Guiducci, Thomas Illig, Rachel Hackett, Iris M Heid, Kevin B Jacobs, Valeriya Lyssenko, Manuela Uda, The Diabetes Genetics Initiative, FUSION, KORA, The Prostate, Lung Colorectal and Ovarian Cancer Screening Trial, The Nurses' Health Study, SardiNIA, Michael Boehnke, Stephen J Chanock, Leif C Groop, Frank B Hu, Bo Isomaa, Peter Kraft, Leena Peltonen, Veikko Salomaa, David Schlessinger, David J Hunter, Richard B Hayes, Gonçalo R Abecasis, H-Erich Wichmann, Karen L Mohlke & Joel N Hirschhorn
Published online: 6 April 2008 | doi 10.1038/ng.125
