Science & Nature子刊：发现可能增加患糖尿病风险的基因
据此间媒体报道，科学家最新鉴别出一些可能会增加患糖尿病风险的基因，这一研究成果将有助于研制治疗Ⅱ型糖尿病的新药，并通过基因检测预知哪些人容易患糖尿病。
这一研究成果刊登在２６日出版的美国《科学》周刊和英国《自然遗传学》杂志上。这是迄今为止对糖尿病进行的最深入的研究。
科学家搜集了５万名糖尿病人及健康人的基因样本，从中鉴别出至少８种可能增加人们患糖尿病风险的基因。参与这项研究的美国密歇根大学学者迈克尔·伯恩克说：“我们对导致Ⅱ型糖尿病的基因变异的认识有了一个飞跃。”
这８种基因中，有２种可能与胰腺中某些产生胰岛素的细胞的形成与再生有关。
目前，全球有２亿人罹患糖尿病。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，对这一疾病的治疗和预防因此障碍重重。许多科学家认为，引发Ⅱ型糖尿病的不仅仅是基因，患者的生活方式也是重要因素。
原始出处:
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: francisc@mail.nih.gov
Michael Boehnke , E-mail: boehnke@umich.edu
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.
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