EDAR V370A Under Positive Selection in East Asians: Reanalysis of Public Data Refutes the Genetic Drift Hypothesis
Year: 2026
Type: article
Abstract: The high frequency of the gain-of-function mutation EDAR V370A in East Asian populations is often attributed to random genetic drift, yet this hypothesis has not been formally tested using classic population-genetic statistics. Here we reanalyze public data from the 1000 Genomes Project and the Human Genome Diversity Project to assess whether EDAR V370A exhibits signatures of positive selection. We calculated allele frequencies, population differentiation (FST), integrated haplotype score (iHS), cross‑population extended haplotype homozygosity (XP-EHH), and Tajima’s D. Results show that EDAR V370A in East Asians yields iHS > 2; FST values between East Asians and Africans or Europeans exceed the 95th genome-wide percentile; and XP-EHH is strongly positive. These patterns are inconsistent with neutral evolution or random genetic drift. We conclude that EDAR V370A rose to high frequency due to positive selection rather than genetic drift. This finding provides population-genetic support for the “aquatic protein-EDAR coupling” hypothesis of the Shandong Model and calls for revision of drift-based explanations for East Asian‑specific dental and ectodermal traits.
Author: Zhang, Jing
Institution: SBS Swiss Business School
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7159765841
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