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Inbreeding and genetic disease in Sottunga, Finland
E O'Brien1, L B Jorde, B Rönnlöf
1Department of Human Genetics, University of Utah School of Medicine, Salt Lake City 84132.
American Journal of Physical Anthropology
|April 1, 1988
Summary
In Sottunga, Aland Islands, inbreeding levels are low and do not explain the high incidence of recessive genetic diseases. Historical analysis reveals changing inbreeding trends linked to migration patterns.
Area of Science:
- Population Genetics
- Human Genetics
- Medical Genetics
Background:
- Recessive genetic diseases can be more prevalent in isolated populations due to inbreeding.
- The Aland Islands, particularly Sottunga, present a unique case for studying genetic disease prevalence and inbreeding patterns.
Purpose of the Study:
- To investigate the contribution of inbreeding to the prevalence of recessive genetic diseases in Sottunga, Aland Islands.
- To analyze historical inbreeding trends and their relationship with migration patterns in this island community.
Main Methods:
- Utilized genealogical data for 3,030 individuals over 15 generations to estimate inbreeding.
- Conducted cohort analysis to track inbreeding changes over time (1725-1975).
- Analyzed pedigree development, common ancestors, and relationship paths between spouses.
Main Results:
- Sottunga exhibits a low average inbreeding value (.0031) for 1725-1975.
- Inbreeding peaked between 1750-1900 (.0057) and declined sharply afterward, correlating with migration.
- Remote consanguinity contributed more to inbreeding than close consanguinity over time.
Conclusions:
- Inbreeding in Sottunga does not account for the high incidence of autosomal recessive disorders.
- Observed inbreeding trends align with isolate breakdown and changing migration patterns in the Aland Islands since 1900.