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1. Introduction
2. Outline
3. COPD: definition
4. Spirometry: normal and COPD
5. Cigarette smoking campaign
6. Trends in cigarette smoking: men and women
7. COPD epidemiology and significance
8. FEV1 and pack year of smoking
9. Evidence for genetic determinants
10. Overview of complex trait genetics
11. Genotype by environment interaction
12. Example: Phenylketonuria
13. Does COPD fit to the 2*2 table?
14. Application of the 2*4 table
15. Types of environmental exposures
16. GxE: key issues
17. Key methods in genetic epidemiology
18. Alpha 1-antitrypsin: background
19. Alpha 1-antitrypsin deficiency and COPD
20. Variable expression in PI Z subjects
21. Pulmonary function in AAT deficiency
22. Effects of cigarette smoking
23. PI and smoking interaction
24. FEV1 in PI ZZ nonsmokers
25. Augmentation therapy
26. Who should be tested for AAT deficiency?
27. Is current AAT detection working?
28. AAT diagnosis and management
29. Testing COPD patients for AAT deficiency
30. Monogenic syndromes with COPD
31. Familial aggregation in COPD
32. Boston early-onset COPD study population
33. Results of the study
34. Phenotypes with smoking related effects
35. Genetics of pulmonary function - COPD
36. Linkage analysis of COPD related phenotypes
37. Genome scan linkage analysis
38. Genotyping and data cleaning
39. Original genome scan linkage results
40. Impact of flanking STR markers
41. Impact of stratifying by smoking
42. FEV1 linkage with Flanking markers
43. Summary of Boston results
44. Linkage analysis: Framingham study methods
45. Framingham study results
46. Linkage studies in the general population
47. Explanations for differences in linkage analysis
48. Overview of COPD fine mapping
49. Genetic association analysis of COPD
50. Case-control genetic association studies
51. Potential causes of inconsistent results
52. Testing candidate genes: phenotypes
53. Testing candidate genes: statistics
54. Testing candidate genes: populations
55. Linkage of chromosome 19 to Pre-BD FEV1
56. TGFBeta1 and COPD
57. PBAT analysis of TGFB1 SNPs
58. Case-control association analysis
59. Is TGFB1 a COPD susceptibility gene?
60. Inclusion of GxE interactions in COPD
61. Can we use the environment to find genes?
62. Collaborators

Topics Covered

• Chronic Obstructive Pulmonary Disease (COPD) and cigarette smoking
• Gene x environment interactions in COPD
• Alpha 1-antitrypsin as a rare major genetic risk for COPD
• Familial aggregation of COPD within smokers
• Linkage analysis of COPD-related phenotypes
• Genetic association studies in COPD

Links

Series:

• Gene-Environment Interactions

Categories:

• Genetics & Epigenetics

Therapeutic Areas:

• Respiratory Diseases

Talk Citation

Publication History

• Published on October 1, 2007
• Archived on September 4, 2015

Financial Disclosures

• Prof. Edwin Silverman has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.