Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations

Yamamoto, Kenichi; Namba, Shinichi; Sonehara, Kyuto; Suzuki, Ken; Sakaue, Saori; Cooke, P. Niall; Higashiue, Shinichi; Kobayashi, Shuzo; Afuso, Hisaaki; Matsuura, Kosho; Mitsumoto, Yojiro; Fujita, Yasuhiko; Tokuda, Torao; the Biobank Japan Project; Matsuda, Koichi; Gakuhari, Takashi; Yamauchi, Toshimasa; Kadowaki, Takashi; Nakagome, Shigeki; Okada, Yukinori

doi:https://doi.org/10.1038/s41467-024-54052-0

Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations

Yamamoto, Kenichi; Namba, Shinichi; Sonehara, Kyuto et al.

Nature Communications, 2024, 15, 9780

アクセス数:2,188件（2025-10-24 11:34 集計）

固定URL: https://hdl.handle.net/11094/99695

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タイトル	Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations
著者	NRID 1000090875585 1000090875585 researchmap permalink KenichiYamamotoPed KenichiYamamotoPed Scopus Author ID 57204724143 57204724143 ORCID 0000-0001-9594-7050 0000-0001-9594-7050 著者名 Yamamoto, Kenichi
	著者名 Namba, Shinichi
	NRID 1000060975358 1000060975358 著者名 Sonehara, Kyuto
	NRID 1000090838806 1000090838806 researchmap permalink kensuzuki kensuzuki 著者名 Suzuki, Ken
	ORCID 0000-0003-3618-9717 0000-0003-3618-9717 researchmap permalink saorisakaue saorisakaue 著者名 Sakaue, Saori
	著者名 Cooke, P. Niall
	著者名 Higashiue, Shinichi
	NRID 1000060195782 1000060195782 著者名 Kobayashi, Shuzo
	著者名 Afuso, Hisaaki
	NRID 1000090401257 1000090401257 著者名 Matsuura, Kosho
	著者名 Mitsumoto, Yojiro
	著者名 Fujita, Yasuhiko
	著者名 Tokuda, Torao
	著者名 the Biobank Japan Project
	著者名 Matsuda, Koichi
	NRID 1000070749530 1000070749530 著者名 Gakuhari, Takashi
	NRID 1000040372370 1000040372370 著者名 Yamauchi, Toshimasa
	NRID 1000030185889 1000030185889 著者名 Kadowaki, Takashi
	NRID 1000040625208 1000040625208 著者名 Nakagome, Shigeki
	NRID 1000070727411 1000070727411 ORCID 0000-0002-0311-8472 0000-0002-0311-8472 researchmap permalink yokada yokada Scopus Author ID 7005443464 7005443464 著者名 Okada, Yukinori
内容	Yamamoto K., Namba S., Sonehara K., et al. Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations. Nature Communications 15, 9780 (2024); https://doi.org/10.1038/s41467-024-54052-0.
抄録	The tripartite ancestral structure is a recently proposed model for the genetic origin of modern Japanese, comprising indigenous Jomon hunter-gatherers and two additional continental ancestors from Northeast Asia and East Asia. To investigate the impact of the tripartite structure on genetic and phenotypic variation today, we conducted biobank-scale analyses by merging Biobank Japan (BBJ; n = 171,287) with ancient Japanese and Eurasian genomes (n = 22). We demonstrate the applicability of the tripartite model to Japanese populations throughout the archipelago, with an extremely strong correlation between Jomon ancestry and genomic variation among individuals. We also find that the genetic legacy of Jomon ancestry underlies an elevated body mass index (BMI). Genome-wide association analysis with rigorous adjustments for geographical and ancestral substructures identifies 132 variants that are informative for predicting individual Jomon ancestry. This prediction model is validated using independent Japanese cohorts (Nagahama cohort, n = 2993; the second cohort of BBJ, n = 72,695). We further confirm the phenotypic association between Jomon ancestry and BMI using East Asian individuals from UK Biobank (n = 2286). Our extensive analysis of ancient and modern genomes, involving over 250,000 participants, provides valuable insights into the genetic legacy of ancient hunter-gatherers in contemporary populations.
出版者	Nature Research
収録物名	Nature Communications
巻(号)	15
ページ	9780
刊行年月	2024-11-12
言語	英語
ハンドルURL	https://hdl.handle.net/11094/99695
eISSN	20411723
関連情報 (isIdenticalTo)	DOI (出版社版) https://doi.org/10.1038/s41467-024-54052-0
アクセス権	open access
権利情報	This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
出版タイプ	Version of Record
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCTERMS.bibliographicCitation	Nature Communications. 2024, 15, p. 9780
DC.title	Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations
DC.creator	Yamamoto, Kenichi
	Namba, Shinichi
	Sonehara, Kyuto
	Suzuki, Ken
	Sakaue, Saori
	Cooke, P. Niall
	Higashiue, Shinichi
	Kobayashi, Shuzo
	Afuso, Hisaaki
	Matsuura, Kosho
	Mitsumoto, Yojiro
	Fujita, Yasuhiko
	Tokuda, Torao
	the Biobank Japan Project
	Matsuda, Koichi
	Gakuhari, Takashi
	Yamauchi, Toshimasa
	Kadowaki, Takashi
	Nakagome, Shigeki
	Okada, Yukinori
DC.publisher	Nature Research
DC.language' scheme='DCTERMS.RFC1766	英語
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2024-11-12
DC.identifier	https://doi.org/10.1038/s41467-024-54052-0
DC.description	Yamamoto K., Namba S., Sonehara K., et al. Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations. Nature Communications 15, 9780 (2024); https://doi.org/10.1038/s41467-024-54052-0.
DCTERMS.abstract	The tripartite ancestral structure is a recently proposed model for the genetic origin of modern Japanese, comprising indigenous Jomon hunter-gatherers and two additional continental ancestors from Northeast Asia and East Asia. To investigate the impact of the tripartite structure on genetic and phenotypic variation today, we conducted biobank-scale analyses by merging Biobank Japan (BBJ; n = 171,287) with ancient Japanese and Eurasian genomes (n = 22). We demonstrate the applicability of the tripartite model to Japanese populations throughout the archipelago, with an extremely strong correlation between Jomon ancestry and genomic variation among individuals. We also find that the genetic legacy of Jomon ancestry underlies an elevated body mass index (BMI). Genome-wide association analysis with rigorous adjustments for geographical and ancestral substructures identifies 132 variants that are informative for predicting individual Jomon ancestry. This prediction model is validated using independent Japanese cohorts (Nagahama cohort, n = 2993; the second cohort of BBJ, n = 72,695). We further confirm the phenotypic association between Jomon ancestry and BMI using East Asian individuals from UK Biobank (n = 2286). Our extensive analysis of ancient and modern genomes, involving over 250,000 participants, provides valuable insights into the genetic legacy of ancient hunter-gatherers in contemporary populations.
DC.rights	This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
DC.format	99695
citation_title	Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations
citation_author	Yamamoto, Kenichi
	Namba, Shinichi
	Sonehara, Kyuto
	Suzuki, Ken
	Sakaue, Saori
	Cooke, P. Niall
	Higashiue, Shinichi
	Kobayashi, Shuzo
	Afuso, Hisaaki
	Matsuura, Kosho
	Mitsumoto, Yojiro
	Fujita, Yasuhiko
	Tokuda, Torao
	the Biobank Japan Project
	Matsuda, Koichi
	Gakuhari, Takashi
	Yamauchi, Toshimasa
	Kadowaki, Takashi
	Nakagome, Shigeki
	Okada, Yukinori
citation_publisher	Nature Research
citation_language	英語
citation_date	2024-11-12
citation_journal_title	Nature Communications
citation_volume	15
citation_firstpage	9780
citation_doi	https://doi.org/10.1038/s41467-024-54052-0
citation_public_url	https://hdl.handle.net/11094/99695

Genetic legacy of ancient hunter-gatherer Jomon in Japanese populations

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