The field of human genetics has witnessed tremendous acceleration in the last decade. The parallel advances in genotyping and sequencing technology, our understanding of human genetic variation, and the statistical methodologies needed to interpret genetic findings have led to a veritable explosion of genetic discovery. In few other diseases have the issues raised by these results become as paramount as in type 2 diabetes, where the elucidation of its genetic architecture, its transferrability across populations, the role of intermediate quantitative traits, the relative impact of environmental factors, the laborious progress from genetic association to function, and the clinical translation of genetic findings have met with both challenging obstacles and creative solutions. This book captures the state of the art of type 2 diabetes genetics, from the process of genetic discovery through its interpretation to its clinical application, and illustrates the path for other complex human phenotypes.
Alan Shuldiner, Philippe Froguel: Historical overview of methodology: candidate gene studies, GWAS, sequencing, pedigrees.- Rob Sladek, Inga Prokopenko: GWAS of type 2 diabetes.- Inês Barroso, Robert Scott: GWAS of quantitative traits.- Erik Ingelsson, Tuomas Kilpeläinen: GWAS of adiposity.- John Blangero, Toni Pollin: Sequencing approaches.- Laura Scott, Karen Mohlke: Fine-mapping.- Alessandro Doria, Per-Henrik Groop: Genetics of diabetic complications.- Richa Saxena, Nichole Allred: Transferrability across ethnic groups.- Torben Hansen, Richard Watanabe: Physiology insights.- Nancy Cox, Leslie Baier: Network approaches.- Pal Njølstad, Sian Ellard: Insights from monogenic diabetes.- Charlotte Ling, Lorenzo Pasquali: Epigenetics in type 2 diabetes.- Peter Kraft, Alisa Manning: Gene × environment interactions.- Oluf Pedersen, Kristine Allin, Trine Nielsen: The microbiome in type 2 diabetes.- Struan Grant, Leif Groop: TCF7L2.- Anna Gloyn, Marju Orho-Melander: GCKR.- Richard O’Brien, Nabila Bouatia-Naji: G6PC2.- Peter Light, Michael Weedon: KCNJ11/ABCC8.- Jason Flannick, William Lowe: SLC30A8.- David Meyre, Stephen O’Rahilly :FTO.- Valeri Lyssenko, Amelie Bonnefond: MTNR1B.- Frank Hu, Josee Dupuis, Shuai Wang: Diabetes prediction.- Ruth Loos, Cecile Janssens: Obesity prediction.- Kaixin Zhou, Kathy Giacomini, Sook Wah Yee: Pharmacogenetics of metformin.- Ewan Pearson, Peter Kovacs: Pharmacogenetics of sulfonylureas.- Tim Frayling, Ben Voight: Mendelian randomization.- Bill Knowler, Marie-France Hivert: Diabetes prevention.- Paul Franks, Lu Qi: Nutrigenetics.- Mark McCarthy, Michael Boehnke: Conclusion: What the future holds.