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，但人们对引起这种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。
来自MIT和哈佛大学Broad研究所、瑞典隆德大学以及瑞士诺华公司（Novartis）的研究人员近日宣布，他们完成了基因组层面上的基因差异地图，这些基因差异与第二型糖尿病等其它代谢疾病有密切关系。
根据一篇发表于4月26日Science中的研究，科学家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。
科学家搜集了5万名糖尿病人及健康者的基因样本，从中鉴别出至少8种可能增加人们患糖尿病风险的基因。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。
这项工作是2004年开始的“糖尿病遗传学计划”（Diabetes Genetics Initiative，简称DGI）的成果。尽管第二型糖尿病明显有家族遗传特点，但它的基因起源很大程度上并未得到深入了解，DGI就旨在破译第二型糖尿病的遗传成因。
Broad研究院医学和人口遗传学计划主任，研究小组主要负责人David Altshuler表示，人类基因组计划、人类基因组遗传整合图谱（HapMap）数据库以及新的基因组研究工具使首次找到引发疾病的异常DNA成为可能。糖尿病和心血管疾病是受多种基因、环境和行为影响的，找出单个基因的遗传作用需要这些强大的新技术。
（编译/姜欣慧） (资料来源 : biocompare)
原文链接:http://news.biocompare.com/newsstory.asp?id=180342
原始出处:
Published Online April 26, 2007
Science DOI: 10.1126/science.1142358
Submitted on March 9, 2007
Accepted on April 20, 2007
Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels
Diabetes Genetics Initiative of Broad Institute of Harvard and MIT , Lund University and Novartis Institutes for BioMedical Research , Richa Saxena 1, Benjamin F. Voight 2, Valeriya Lyssenko 3, Noel P. Burtt 4, Paul I.W. de Bakker 1, Hong Chen 5, Jeffrey J. Roix 5, Sekar Kathiresan 2, Joel N. Hirschhorn 6, Mark J. Daly 2, Thomas E. Hughes 5*, Leif Groop 7*, David Altshuler 1*, Peter Almgren 3, Jose C. Florez 1, Joanne Meyer 5, Kristin Ardlie 4, Kristina Bengtsson 8, Bo Isomaa 9, Guillaume Lettre 6, Ulf Lindblad 8, Helen N. Lyon 6, Olle Melander 3, Christopher Newton-Cheh 2, Peter Nilsson 3, Marju Orho-Melander 3, Lennart Råstam 8, Elizabeth K. Speliotes 10, Marja-Riitta Taskinen 11, Tiinamaija Tuomi 12, Candace Guiducci 4, Anna Berglund 3, Joyce Carlson 3, Lauren Gianniny 4, Rachel Hackett 4, Liselott Hall 3, Johan Holmkvist 3, Esa Laurila 3, Marketa Sjögren 3, Maria Sterner 3, Aarti Surti 4, Margareta Svensson 3, Malin Svensson 3, Ryan Tewhey 4, Brendan Blumenstiel 4, Melissa Parkin 4, Matthew DeFelice 4, Rachel Barry 4, Wendy Brodeur 4, Jody Camarata 4, Nancy Chia 4, Mary Fava 4, John Gibbons 4, Bob Handsaker 4, Claire Healy 4, Kieu Nguyen 4, Casey Gates 4, Carrie Sougnez 4, Diane Gage 4, Marcia Nizzari 4, Stacey B. Gabriel 4, Gung-Wei Chirn 5, Qicheng Ma 5, Hemang Parikh 3, Delwood Richardson 5, Darrell Ricke 5, Shaun Purcell 13
1 Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.
2 Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Medicine, Harvard Medical School, Boston, Massachusetts 02115, USA.
3 Department of Clinical Sciences, Diabetes and Endocrinology Research Unit, University Hospital Malmö, Lund University, Malmö, Sweden.
4 Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.
5 Diabetes and Metabolism Disease Area, Novartis Institutes for BioMedical Research, 100 Technology Square, Cambridge, Massachusetts, USA.
6 Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA.; Division of Genetics, Children's Hospital, Boston, Massachusetts 02115, USA.
7 Department of Clinical Sciences, Diabetes and Endocrinology Research Unit, University Hospital Malmö, Lund University, Malmö, Sweden.; Department of Medicine, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
8 Skaraborg Institute, Skövde, Sweden.
9 Malmska Municipal Health Center and Hospital, Jakobstad, Finland.; Folkhälsan Research Center, Helsinki, Finland.
10 Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.; Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA.; Division of Genetics, Children's Hospital, Boston, Massachusetts 02115, USA.
11 Department of Medicine, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
12 Department of Medicine, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Center, Helsinki, Finland.
13 Broad Institute of Harvard and MIT, Cambridge, Massachusetts 02142, USA.; Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
* To whom correspondence should be addressed.
Thomas E. Hughes , E-mail: thomase.hughes@novartis.com
Leif Groop , E-mail: leif.groop@med.lu.se
David Altshuler , E-mail: altshuler@molbio.mgh.harvard.edu
Abstract
New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight into disease etiology. We analyzed 386,731 common single nucleotide polymorphisms (SNPs) in 1,464 patients with T2D and 1,467 matched controls, each characterized for measures of glucose metabolism, lipids, obesity, and blood pressure. With collaborators (FUSION and WTCCC/UKT2D) we identify and confirm three loci associated with T2D -- in a non-coding region near CDKN2A and CDKN2B, in an intron of IGF2BP2, and an intron of CDKAL1 -- and replicate associations near HHEX and in SLC30A8 found by a recent whole genome association study. We identify and confirm association of a SNP in an intron of glucokinase regulatory protein with serum triglycerides. The discovery of associated variants in unsuspected genes and outside coding regions illustrates the ability of genome-wide association studies to provide potentially important clues into the pathogenesis of common diseases.
