Decline of Autozygosity in North American Populations
Author Information
Author(s): Michael A. Nalls, Javier Simon-Sanchez, J. Raphael Gibbs, Coro Paisan-Ruiz, Jose Tomas Bras, Toshiko Tanaka, Mar Matarin, Sonja Scholz, Charles Weitz, Tamara B. Harris, Luigi Ferrucci, John Hardy, Andrew B. Singleton
Primary Institution: National Institute on Aging
Hypothesis
How have demographic trends in the past century influenced levels of autozygosity in North American populations?
Conclusion
The study found that autozygosity has declined in North American populations due to increased mobility and urbanization.
Supporting Evidence
- Older participants showed more homozygous runs than younger participants.
- The study replicated findings in a subgroup of 477 participants from the Baltimore Longitudinal Study of Aging.
- Statistical models predicted a 14.0% decrease in the frequency of runs of homozygosity over the 20th century.
- Increased mobility and urbanization are linked to decreased autozygosity.
- The trend of decreasing autozygosity may reduce the burden of rare recessive diseases.
Takeaway
As people move around more and live in cities, they are less likely to marry their relatives, which means fewer genetic similarities.
Methodology
The study analyzed runs of homozygosity in two cohorts of North Americans to assess trends in autozygosity.
Potential Biases
Potential bias due to the selection of participants from specific cohorts.
Limitations
The study primarily focused on North Americans of European descent, which may limit the generalizability of the findings.
Participant Demographics
809 unrelated North Americans of European descent, aged 19–99 years.
Statistical Information
P-Value
p<0.01
Confidence Interval
95% confidence interval for estimates of autozygosity decline.
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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