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1. Introduction
2. Experimental genetics vs. observational genetics
3. Example: Finland
4. Finland is well characterized for disease mutations
5. The disease genome of Finns
6. Finnish disease database
7. Molecular background of Finnish disease heritage
8. Finnish disease genes: novel pathways exposed
9. New pathways exposed, example: APECED
10. Molecular background of APECED
11. AIRE-protein
12. AIRE as a transcriptional transactivator in vitro
13. Concept of self-toleracnce
14. AIRE regulates ectopic exression in thymus
15. Consequence of AIRE deficiency
16. Lessons from APECED gene
17. Genetic traits
18. Studying genetic background of common diseases
19. Advantages of isolated populations
20. Effect of bottlenecks in Finland
21. Internal isolates: increased genetic homogeneity
22. LD in subisolate and whole population
23. LD analysis of 2500 SNPs on chromosome 22
24. Using isolation: lactose intolerance
25. Forms of lactose intolerance
26. Adult type hypolactasia: accurate phenotyping
27. Lactose intolerance in Finnish families
28. Identification of lactose intolerance mutations
29. Location of lactose intolerance mutations
30. Human-specific enhancer element of lactase gene
31. Lactose intolerance allele
32. Two forms of lactose intolerance
33. Using isolate: severe coronary heart disease
34. Familial combined hyperlipidemia, FCHL
35. Atherogenic phenotype of FCHL
36. Search for FCHL genes in Finnish FCHL families
37. USF1 is a transcription factor
38. USF1 regulates numerous relevant genes
39. Disease mutations
40. How to establish the real risk effect - target cells
41. Allelic imbalance?
42. Sample sets of fat biopsies
43. Expression of USF1 risk allele in heterozygotes
44. USF1 transcript levels following insulin clamp
45. Levels of USF1 target-genes in fat
46. How to establish the real risk effect - coronary wall
47. Helsinki sudden death study sample (1)
48. Helsinki sudden death study sample (2)
49. How to establish the real risk effect - population
50. FINRISK prospective cohorts
51. USF1 risk allele increases CVD risk in females
52. USF1: replicated in multiple populations
53. Some speculations
54. Acknowledgements
55. Different study samples for different aims
56. Types of helpful data
57. Population based cohorts in NPHI in Finland
58. Large epidemiological cohorts
59. Studies of well characterized human populations
60. Global effort is needed

Topics Covered

• Disease mutations in Finland
• Molecular background of Finnish disease heritage
• Finnish disease genes, novel pathways exposed
• Example: APECED
• AIRE protein
• AIRE regulates ectopic expression in thymus
• AIRE deficiency
• Simplifying the complex genetic background of common diseases
• Advantages of isolated populations
• Internal isolates: increased genetic homogeneity
• Lactose intolerance
• Adult type hypolactasia
• Severe coronary heart disease
• Familial combined hyperlipidemia, FCHL
• USF1: a transcription factor
• Effect of genetic association on target cells, coronary wall and impact in population
• Population based cohorts in Finland
• Global effort is needed

Links

Series:

• Genetic Epidemiology II

Categories:

• Genetics & Epigenetics
• Methods

Talk Citation

Peltonen, L. (2007, October 1). Use of isolated populations: pitfalls and potential [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 15, 2025, from https://doi.org/10.69645/BYZE4585.
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Publication History

• Published on October 1, 2007
• Archived on February 25, 2021

Financial Disclosures

• Dr. Leena Peltonen has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.