Positive Selection in East Asians for an EDAR Allele that Enhances NF-κB Activation
Author Information
Author(s): Bryk Jarosław, Hardouin Emilie, Pugach Irina, Hughes David, Strotmann Rainer, Stoneking Mark, Myles Sean
Primary Institution: Max Planck Institute for Evolutionary Anthropology
Hypothesis
Was the derived nonsynonymous substitution (370A) in EDAR driven to high frequency in East Asia by positive selection?
Conclusion
The 370A allele in EDAR enhances NF-κB activation and was likely positively selected in East Asians prior to 10,000 years ago.
Supporting Evidence
- The derived 370A allele results in increased activation of NF-κB compared to the ancestral 370V allele.
- Fst analysis showed that the 370A allele has a highly unusual worldwide frequency distribution.
- The estimated time since fixation of the 370A allele is approximately 10,740 years.
Takeaway
Scientists found a gene variant in East Asians that helps activate a protein important for hair and skin development, and this variant became common because it was beneficial.
Methodology
The study involved genotyping the V370A polymorphism in 53 populations and conducting in vitro assays to measure NF-κB activation.
Limitations
The study's estimate of the time since fixation of the 370A allele involves several assumptions and should be interpreted with caution.
Participant Demographics
The study included individuals from 53 worldwide populations, specifically focusing on East Asians.
Statistical Information
P-Value
0.018
Confidence Interval
95% CI = 1133–73996
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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