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,，但人們對引起這種疾病的根本原因知之甚少,，對這一疾病的治療和預(yù)防因此障礙重重。

    來自MIT和哈佛大學(xué)Broad研究所,、瑞典隆德大學(xué)以及瑞士諾華公司（Novartis）的研究人員近日宣布,，他們完成了基因組層面上的基因差異地圖，這些基因差異與第二型糖尿病等其它代謝疾病有密切關(guān)系,。

    根據(jù)一篇發(fā)表于4月26日Science中的研究,，科學(xué)家新鑒別出一些可能會增加患糖尿病風險的基因，這一研究成果將有助于研制治療Ⅱ型糖尿病的新藥,，并通過基因檢測預(yù)知哪些人容易患糖尿病,。

    科學(xué)家搜集了5萬名糖尿病人及健康者的基因樣本，從中鑒別出至少8種可能增加人們患糖尿病風險的基因,。這8種基因中,，有2種可能與胰腺中某些產(chǎn)生胰島素的細胞的形成與再生有關(guān)。

    這項工作是2004年開始的“糖尿病遺傳學(xué)計劃”（Diabetes Genetics Initiative,，簡稱DGI）的成果,。盡管第二型糖尿病明顯有家族遺傳特點，但它的基因起源很大程度上并未得到深入了解,，DGI就旨在破譯第二型糖尿病的遺傳成因,。

    Broad研究院醫(yī)學(xué)和人口遺傳學(xué)計劃主任,，研究小組主要負責人David Altshuler表示，人類基因組計劃,、人類基因組遺傳整合圖譜（HapMap）數(shù)據(jù)庫以及新的基因組研究工具使首次找到引發(fā)疾病的異常DNA成為可能,。糖尿病和心血管疾病是受多種基因,、環(huán)境和行為影響的，找出單個基因的遺傳作用需要這些強大的新技術(shù),。

（編譯/姜欣慧） (資料來源 : biocompare)

原文鏈接:http://news.biocompare.com/newsstory.asp?id=180342

原始出處:

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: [email protected]
Leif Groop , E-mail: [email protected]
David Altshuler , E-mail: [email protected]

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.