Type 2 Diabetes and Genetics, 2010: Translating Knowledge into Understanding
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Type 2 Diabetes and Genetics, 2010: Translating Knowledge into Understanding Geoffrey A. Walford & Jose C. Florez
Published online: 7 September 2010 # Springer Science+Business Media, LLC 2010
Abstract Type 2 diabetes (T2D) is epidemic, but much has been learned about its molecular etiology in recent years. In this review, we present the substantial evidence for the contribution of genetic variation to the development of T2D that has accumulated over the past decade, emphasizing the respective contribution of candidate gene, linkage analysis, and genome-wide association approaches. We then discuss how this emerging knowledge is informing and reshaping the understanding of T2D biology and how, in the near term, genetics may be used clinically to identify individuals who are at risk of disease or who may derive benefit from G. A. Walford : J. C. Florez Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA G. A. Walford : J. C. Florez Diabetes Research Center (Diabetes Unit), Massachusetts General Hospital, Boston, MA 02114, USA G. A. Walford : J. C. Florez Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA G. A. Walford : J. C. Florez Department of Medicine, Harvard Medical School, Boston, MA 02115, USA J. C. Florez (*) Diabetes Unit/Center for Human Genetic Research, Massachusetts General Hospital, Simches Research Building—CPZN 5.250, 185 Cambridge Street, Boston, MA 02114, USA e-mail: [email protected]
specific treatment modalities. In the final section, we address common questions posed to T2D geneticists and highlight the future approaches that will continue to improve our understanding of T2D genetics. Keywords Type 2 diabetes . Genetics . Genome-wide association studies
Introduction Over 21 million people in the United States have type 2 diabetes mellitus (T2D) [1]. Despite advances in treatment, diabetes is the leading cause of chronic kidney disease, blindness, and amputation in adults and is a significant risk factor for heart disease and stroke [2]. The complications associated with uncontrolled T2D are a major cause of morbidity and mortality for affected individuals and of increased health care costs for the medical system [3, 4]. Therefore, improved understanding of pathophysiology and treatment of T2D are critical goals for medicine and health care systems. Studies of families, twins, and populations have established firmly that T2D is a heritable disorder. Although the risk of developing T2D in the general population is approximately 7%, the risk to the child of a parent with T2D is 40% (reviewed in [5]). Monozygotic twins have twice the concordance rate for T2D than dizygotic twins [6, 7], indicating that sharing DNA sequence with an affected individual increases the risk of T2D. Unlike Mendelian disorders, which are caused by a single gene mutation with strong effects on phenotype, current evidence indicates that the genetic risk of developing T2D is the result of multiple
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