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Mapping Human Genetic Diversity in Asia

Mahmood Ameen Abdulla, Ikhlak Ahmed, Anunchai Assawamakin, Jong Bhak, Samir Kumar Brahmachari, Gayvelline C. Calacal, Amit Chaurasia, Chien-Hsiun Chen, Jieming Chen, Yuan-Tsong Chen, Jiayou Chu, Eva Maria C. Cutiongco–de la Paz, Maria Corazon A. De Ungria, Frederick C. Delfin, Juli Edo, Suthat Fuchareon, Ho Ghang, Takashi Gojobori, Junsong Han, Sheng-Feng Ho, Boon‐Peng Hoh, Wei Huang, Hidetoshi Inoko, Pankaj Jha, Timothy Adrian Jinam, Jin Li, Jongsun Jung, Daoroong Kangwanpong, Jatupol Kampuansai, Giulia Catignani Kennedy

📄 Abstract

Asia harbors substantial cultural and linguistic diversity, but the geographic structure of genetic variation across the continent remains enigmatic. Here we report a large-scale survey of autosomal variation from a broad geographic sample of Asian human populations. Our results show that genetic ancestry is strongly correlated with linguistic affiliations as well as geography. Most populations show relatedness within ethnic/linguistic groups, despite prevalent gene flow among populations. More than 90% of East Asian (EA) haplotypes could be found in either Southeast Asian (SEA) or Central-South Asian (CSA) populations and show clinal structure with haplotype diversity decreasing from south to north. Furthermore, 50% of EA haplotypes were found in SEA only and 5% were found in CSA only, indicating that SEA was a major geographic source of EA populations.

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