美国和欧洲研究人员在新一期《自然—遗传学》(Nature Genetics)杂志上报告说,他们又发现有6种基因会增加人们罹患Ⅱ型糖尿病的风险。这使迄今发现的糖尿病基因数量增加到16种。
来自美国和欧洲40多个研究中心的研究人员对7万多人的基因数据进行分析后获得了上述发现。研究人员说,这6种此前未知的基因中的任何一种都会略微增加人们罹患糖尿病的风险,而不幸拥有全部6种基因的人罹患糖尿病的几率比一般人高2倍到3倍。
研究项目负责人之一、英国牛津大学的马克·麦卡锡说,此前在糖尿病研究人员的“雷达屏”上从未出现这6种基因中的任何一种,发现它们将可能为了解糖尿病的形成过程提供新线索,为开发防治这种慢性疾病的新方法带来机会。
据世界卫生组织估计,全世界有1.8亿多名糖尿病患者,这一数字到2030年可能会翻番。尽管全球糖尿病患者越来越多,但人们对引发这一疾病的根本原因知之甚少,防治这一疾病因此障碍重重。(来源:新华网)
生物谷推荐原始出处:
(Nature Genetics),doi:10.1038/ng.120,Eleftheria Zeggini, Mark I McCarthy, Michael Boehnke & David Altshuler
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
Eleftheria Zeggini1,10, Laura J Scott2,10, Richa Saxena3,4,5,6,7,8,10, Benjamin F Voight3,4,5,7,10, Jonathan L Marchini11, Tianle Hu2, Paul IW de Bakker3,7,12, Gonçalo R Abecasis2, Peter Almgren13, Gitte Andersen14, Kristin Ardlie3, Kristina Bengtsson Boström15, Richard N Bergman16, Lori L Bonnycastle17, Knut Borch-Johnsen14,18, Noël P Burtt3, Hong Chen19, Peter S Chines17, Mark J Daly3,4,5,7, Parimal Deodhar17, Chia-Jen Ding2, Alex S F Doney20, William L Duren2, Katherine S Elliott1, Michael R Erdos17, Timothy M Frayling21,22, Rachel M Freathy21,22, Lauren Gianniny3, Harald Grallert23, Niels Grarup14, Christopher J Groves24, Candace Guiducci3, Torben Hansen14, Christian Herder25, Graham A Hitman26, Thomas E Hughes19, Bo Isomaa27,28, Anne U Jackson2, Torben Jørgensen29, Augustine Kong30, Kari Kubalanza17, Finny G Kuruvilla3,4,6, Johanna Kuusisto31, Claudia Langenberg32, Hana Lango21,22, Torsten Lauritzen33, Yun Li2, Cecilia M Lindgren1,24, Valeriya Lyssenko13, Amanda F Marvelle34, Christa Meisinger23, Kristian Midthjell35, Karen L Mohlke34, Mario A Morken17, Andrew D Morris20, Narisu Narisu17, Peter Nilsson13, Katharine R Owen24, Colin NA Palmer36, Felicity Payne37, John R B Perry21,22, Elin Pettersen38, Carl Platou35, Inga Prokopenko1,24, Lu Qi39,40, Li Qin34, Nigel W Rayner1,24, Matthew Rees17, Jeffrey J Roix19, Anelli Sandbæk18, Beverley Shields22, Marketa Sjögren13, Valgerdur Steinthorsdottir30, Heather M Stringham2, Amy J Swift17, Gudmar Thorleifsson30, Unnur Thorsteinsdottir30, Nicholas J Timpson1,41, Tiinamaija Tuomi28,42, Jaakko Tuomilehto43,44,45, Mark Walker46, Richard M Watanabe47, Michael N Weedon21,22, Cristen J Willer2, Wellcome Trust Case Control Consortium, Thomas Illig23, Kristian Hveem35, Frank B Hu39,40, Markku Laakso31, Kari Stefansson30, Oluf Pedersen14,18, Nicholas J Wareham32, Inês Barroso37, Andrew T Hattersley21,22, Francis S Collins17, Leif Groop13,42, Mark I McCarthy1,24,50, Michael Boehnke2,50 & David Altshuler3,4,6,7,8,48,50
Genome-wide association (GWA) studies have identified multiple loci at which common variants modestly but reproducibly influence risk of type 2 diabetes (T2D)1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11. Established associations to common and rare variants explain only a small proportion of the heritability of T2D. As previously published analyses had limited power to identify variants with modest effects, we carried out meta-analysis of three T2D GWA scans comprising 10,128 individuals of European descent and 2.2 million SNPs (directly genotyped and imputed), followed by replication testing in an independent sample with an effective sample size of up to 53,975. We detected at least six previously unknown loci with robust evidence for association, including the JAZF1 (P = 5.0 10-14), CDC123-CAMK1D (P = 1.2 10-10), TSPAN8-LGR5 (P = 1.1 10-9), THADA (P = 1.1 10-9), ADAMTS9 (P = 1.2 10-8) and NOTCH2 (P = 4.1 10-8) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D.
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Broad Institute of Harvard and Massachusetts Institute of Technology (MIT), Cambridge, Massachusetts 02142, USA.
Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.