A 46,000-Year-Old Genetic “Living Fossil” in the Qiang Genome: The ANKRD36 Haplotype and High-Altitude Adaptation

Modern human genomes occasionally carry “ancient fragments” far older than the usual splits among living populations. In the Qiang genome, a team led by Xu Shuhua of Fudan University has found just such a lineage—one that survives almost exclusively among the Qiang.

The researchers identified a missense mutation in ANKRD36 (rs143216880, C>T) that occurs at high frequency in the Qiang but is rare among Han people and nearly absent in Tibetans and most world populations. The mutation is strongly linked with dozens of eQTLs, forming a distinctive haplotype whose origin traces back about 46,000 years—older than the Han, Yao, and other groups that also carry it.

Why would such an ancient lineage survive at high frequency only in the Qiang? ANKRD36 is associated with blood-pressure regulation. The researchers suggest the haplotype may help the Qiang cope with chronic hypoxia at mid-to-high elevations through gene-expression regulation. This 46,000-year-old “living fossil” may thus be tied to the high-altitude life the Qiang have long lived in the Hengduan Mountains.

The finding is a reminder that when reconstructing East Asian population history, alongside the mainstream migrations and admixtures we should also watch the ancient genetic layers preserved by marginal groups—layers that often carry history lost from the genomes of larger populations.

Source: Zeng Weishun, Yang Zhaoqing et al.; corresponding Xu Shuhua, Chu Jiayou. Fudan University press release / Science Advances, 2026-01-15.