Human Genome Epidemiology, 2nd Edition

Contents......Page 12
Contributors......Page 16
PART I: Fundamentals of Human Genome Epidemiology Revisited......Page 26
1. Human Genome Epidemiology: The Road Map Revisited......Page 28
2. Principles of Analysis of Germline Genetics......Page 38
3. The Public Health Genomics Enterprise......Page 61
4. Navigating the Evolving Knowledge of Human Genetic Variation in Health and Disease......Page 88
PART II: Methods and Approaches for Data Collection, Analysis, and Integration......Page 100
5. The Global Emergence of Epidemiological Biobanks: Opportunities and Challenges......Page 102
6. Case-Control and Cohort Studies in the Age of Genome-wide Associations......Page 125
7. The Emergence of Networks in Human Genome Epidemiology: Challenges and Opportunities......Page 145
8. Design and Analysis Issues in Genome-wide Association Studies......Page 161
9. The Challenge of Assessing Complex Gene–Environment and Gene–Gene Interactions......Page 190
10. STrengthening the REporting of Genetic Association Studies (STREGA)—an Extension of the STROBE Statement......Page 213
11. Integration of the Evidence on Gene-Disease Associations: Methods of HuGE Reviews......Page 240
12. Genome-wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases......Page 252
PART III: Case Studies: Cumulative Assessment of the Role of Human Genome Variation in Specific Diseases......Page 272
13. Colorectal Cancer......Page 274
14. Childhood Leukemias......Page 303
15. Bladder Cancer......Page 324
16. Type 2 Diabetes......Page 351
17. Osteoporosis......Page 362
18. Preterm Birth......Page 382
19. Coronary Heart Disease......Page 394
20. Schizophrenia......Page 415
PART IV: Applications of Epidemiologic Methods for Using Genetic Information in Medicine and Public Health......Page 430
21. Mendelian Randomization: The Contribution of Genetic Epidemiology to Elucidating Environmentally Modifiable Causes of Disease......Page 432
22. Evaluation of Predictive Genetic Tests for Common Diseases: Bridging Epidemiological, Clinical, and Public Health Measures......Page 470
23. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: Methods of the EGAPP Working Group......Page 483
24. Rapid, Evidence-based Reviews of Genetic Tests......Page 507
25. Role of Social and Behavioral Research in Assessing the Utility of Genetic Information......Page 522
26. Assessing the Evidence for Clinical Utility in Newborn Screening......Page 542
27. The Role of Epidemiology in Assessing the Potential Clinical Impact of Pharmacogenomics......Page 558
28. The Human Epigenome and Cancer......Page 576
29. The Use of Family History in Public Health Practice: The Epidemiologic View......Page 604
PART V: Case Studies: Assessing the Use of Genetic Information in Practice for Specific Diseases......Page 620
30. Cytochrome P450 Testing in the Treatment of Depression......Page 622
31. A Rapid-ACCE Review of CYP2C9 and VKORC1 Allele Testing to Inform Warfarin Dosing in Adults at Elevated Risk for Thrombotic Events to Avoid Serious Bleeding......Page 645
32. Hereditary Hemochromatosis: Population Screening for Gene Mutations......Page 664
A......Page 682
B......Page 683
C......Page 684
E......Page 688
F......Page 689
G......Page 690
H......Page 692
I......Page 693
M......Page 694
N......Page 696
P......Page 697
R......Page 698
S......Page 699
T......Page 700
Z......Page 701