據(jù)此間媒體報(bào)道,，科學(xué)家最新鑒別出一些可能會(huì)增加患糖尿病風(fēng)險(xiǎn)的基因，這一研究成果將有助于研制治療Ⅱ型糖尿病的新藥,，并通過基因檢測(cè)預(yù)知哪些人容易患糖尿病,。
這一研究成果刊登在２６日出版的美國(guó)《科學(xué)》周刊和英國(guó)《自然遺傳學(xué)》雜志上。這是迄今為止對(duì)糖尿病進(jìn)行的最深入的研究,。
科學(xué)家搜集了５萬名糖尿病人及健康人的基因樣本,，從中鑒別出至少８種可能增加人們患糖尿病風(fēng)險(xiǎn)的基因。參與這項(xiàng)研究的美國(guó)密歇根大學(xué)學(xué)者邁克爾·伯恩克說：“我們對(duì)導(dǎo)致Ⅱ型糖尿病的基因變異的認(rèn)識(shí)有了一個(gè)飛躍,。”
這８種基因中,，有２種可能與胰腺中某些產(chǎn)生胰島素的細(xì)胞的形成與再生有關(guān)。
目前,，全球有２億人罹患糖尿病,。盡管全球糖尿病患者越來越多，但人們對(duì)引發(fā)這一疾病的根本原因知之甚少,，對(duì)這一疾病的治療和預(yù)防因此障礙重重,。許多科學(xué)家認(rèn)為，引發(fā)Ⅱ型糖尿病的不僅僅是基因,，患者的生活方式也是重要因素,。
原始出處:
1. Science DOI: 10.1126/science.1142382 Published Online April 26, 2007 Reports
Submitted on March 12, 2007; Accepted on April 20, 2007
A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants
Laura J. Scott 1, Karen L. Mohlke 2, Lori L. Bonnycastle 3, Cristen J. Willer 1, Yun Li 1, William L. Duren 1, Michael R. Erdos 3, Heather M. Stringham 1, Peter S. Chines 3, Anne U. Jackson 1, Ludmila Prokunina-Olsson 3, Chia-Jen Ding 1, Amy J. Swift 3, Narisu Narisu 3, Tianle Hu 1, Randall Pruim 4, Rui Xiao 1, Xiao-Yi Li 1, Karen N. Conneely 1, Nancy L. Riebow 3, Andrew G. Sprau 3, Maurine Tong 3, Peggy P. White 1, Kurt N. Hetrick 5, Michael W. Barnhart 5, Craig W. Bark 5, Janet L. Goldstein 5, Lee Watkins 5, Fang Xiang 1, Jouko Saramies 6, Thomas A. Buchanan 7, Richard M. Watanabe 8, Timo T. Valle 9, Leena Kinnunen 10, Goncalo R. Abecasis 1, Elizabeth W. Pugh 5, Kimberly F. Doheny 5, Richard N. Bergman 11, Jaakko Tuomilehto 12, Francis S. Collins 3*, Michael Boehnke 1*
1 Department of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
2 Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
3 Genome Technology Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.
4 Department of Mathematics and Statistics, Calvin College, Grand Rapids, MI 49546, USA.
5 Center for Inherited Disease Research, Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21224, USA.
6 Savitaipale Health Center, 54800 Savitaipale, Finland.
7 Division of Endocrinology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
8 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.; Department of Physiology and Biophysics, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
9 Diabetes Unit, Department of Epidemiology and Health Promotion, National Public Health Institute, 00300 Helsinki, Finland.
10 Diabetes Unit, Department of Epidemiology and Health Promotion, National Public Health Institute, 00300 Helsinki, Finland.; Department of Public Health, University of Helsinki, 00014 Helsinki, Finland.
11 Department of Physiology and Biophysics, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
12 Diabetes Unit, Department of Epidemiology and Health Promotion, National Public Health Institute, 00300 Helsinki, Finland.; Department of Public Health, University of Helsinki, 00014 Helsinki, Finland.; South Ostrobothnia Central Hospital, 60220 Seinajoki, Finland.
* To whom correspondence should be addressed.
Francis S. Collins , E-mail: [email protected]
Michael Boehnke , E-mail: [email protected]
Abstract
Identifying the genetic variants that increase risk of type 2 diabetes (T2D) has been a formidable challenge. Adopting a genome wide association strategy, we genotyped 1,161 Finnish T2D cases and 1,174 Finnish normal glucose tolerant (NGT) controls with >315,000 SNPs, and imputed genotypes for an additional >2 million autosomal SNPs. We carried out association analysis with these SNPs to identify genetic variants that predispose to T2D, compared our T2D association results with results of two other such studies, and genotyped 80 SNPs in an additional 1,215 Finnish T2D cases and 1,258 Finnish NGT controls. We identify T2D-associated variants in an intergenic region of chromosome 11p12, contribute to the identification of T2D-associated variants near the genes IGF2BP2, CDKAL1, and CDKN2A/CDKN2B, and confirm that variants near TCF7L2, SLC30A8, HHEX, FTO, PPARG, and KCNJ11 are associated with T2D risk. This brings to at least ten the number of T2D loci now confidently identified.
