The Genetics of Type 2 Diabetes and Related Traits

Biology, Physiology and Translation

  • Jose C. Florez

Table of contents

  1. Front Matter
    Pages i-xi
  2. Genetic Discovery

    1. Front Matter
      Pages 1-1
    2. Amélie Bonnefond, Alan R. Shuldiner, Philippe Froguel
      Pages 3-12
    3. Rob Sladek, Inga Prokopenko
      Pages 13-61
    4. Erik Ingelsson, Tuomas O. Kilpeläinen
      Pages 91-109
    5. Jeffrey W. Kleinberger, Toni I. Pollin
      Pages 111-126
    6. Laura J. Scott, Karen L. Mohlke
      Pages 127-151
    7. Niina Sandholm, Per-Henrik Groop, Alessandro Doria
      Pages 153-180
  3. Interpretation and Data Integration

    1. Front Matter
      Pages 181-181
    2. Richa Saxena, Nicholette D. Palmer
      Pages 183-206
    3. Richard M. Watanabe, Torben Hansen
      Pages 207-221
    4. Tormund Salvesen Njølstad, Sian Ellard, Pål Rasmus Njølstad
      Pages 223-240
    5. Charlotte Ling, Lorenzo Pasquali
      Pages 241-258
    6. Trine Nielsen, Kristine H. Allin, Oluf Pedersen
      Pages 275-293
  4. From Association to Function

    1. Front Matter
      Pages 295-295
    2. Struan F. A. Grant, Leif Groop
      Pages 297-316
    3. Michael N. Weedon, Peter Light
      Pages 363-377
    4. Jason Flannick, William L. Lowe
      Pages 379-401
    5. Amélie Bonnefond, Valeriya Lyssenko
      Pages 403-421
  5. Clinical Translation

    1. Front Matter
      Pages 423-423
    2. Shuai Wang, Frank B. Hu, Josée Dupuis
      Pages 425-440
    3. Ruth J. F. Loos, A. Cecile J. W. Janssens
      Pages 441-462
    4. Sook Wah Yee, Kaixin Zhou, Kathleen M. Giacomini
      Pages 463-481
    5. Peter Kovacs, Ewan Pearson
      Pages 483-497
    6. Timothy M. Frayling, Benjamin F. Voight
      Pages 499-520
    7. Marie-France Hivert, William C. Knowler
      Pages 521-537
    8. Lu Qi, Paul W. Franks
      Pages 539-560
    9. Mark I. McCarthy, David Altshuler, Michael Boehnke
      Pages 561-570
  6. Back Matter
    Pages 571-576

About this book


This book presents the state of the art of type 2 diabetes genetics, from the process of genetic discovery to its interpretation and clinical application, and illustrates a model for other complex human phenotypes.
The first section explores genome-wide association studies, the extension of this method to less accessible phenotypes and the arrival of next-generation sequencing. A further section goes beyond genetics to illustrate how other data sources can help interpret genetic data, such as leveraging population diversity, the correlation of genetic associations with physiological measurements, gene expression modulation, environmental factors and our microbial commensals. The third section describes advances in elucidating the complex path from association to function using in-depth sequencing and functional studies of the cellular and molecular effects of genes in the loci identified by genetics. The final section links our current understanding with clinically relevant questions, such as prediction, interactions with drugs or nutrients, and disease prevention, and paints a realistic but hopeful vision of the future. 



Nutrigenetics Genome-wide association studies Blood glucose Diabetes prevention Obesity Adiposity Glycemic traits Epigenetics

Editors and affiliations

  • Jose C. Florez
    • 1
  1. 1.Ctr Human Genetic ResearchMassachusetts General HospitalBostonUSA

Bibliographic information