日本列島内部集団の遺伝的構造を解析した例として、7001人のサンプルを解析したYamaguchi-Kabata et al.(2008)[150]では、日本列島の人類集団が琉球クラスターと本土クラスターに分かれることをゲノムレベルで示した。これはミトコンドリアやY染色体の解析からも予想されていた、日本列島人類集団の二重構造モデルを支持する結果であった。しかし本土クラスターと琉球クラスターの遺伝的分化の程度は非常に小さく、そのためSNPの頻度の違いは大部分についてはわずかであった[151]。
しかしYamaguchi-Kabata et al.(2008)ではアイヌ人の集団サンプルを解析してはいなかった。その後、斎藤成也ら総合研究大学院大学により、ヒトゲノム中のSNP(単一塩基多型)を示す100万塩基サイトを一挙に調べることができるシステムを用いて、アイヌ人と琉球人を含む日本列島人の大規模なDNA分析が行われた。
(Watanabe et al.(2020))は、47都道府県の日本人約11,000名の全ゲノムSNP遺伝子型データを解析し、都道府県レベルで日本人の遺伝的集団構造を初めて明らかにした。47都道府県を対象に主成分分析では、第1主成分は沖縄県と各都道府県の遺伝的距離を反映しており、沖縄県に遺伝的に最も近いのは鹿児島県であった。第2主成分は都道府県の緯度および経度と有意な相関が見られた。また、近畿地方や四国地方は中国・北京の漢民族に遺伝的に近いこともわかった。この結果は、先住の縄文人と大陸から来た弥生人との混血度合の差異と地理的位置関係が本土日本人の遺伝的地域差を形成した主要因であることを示している。大陸から地理的に近い九州北部よりも、近畿地方や四国地方の人々に弥生人の遺伝的構成成分がより多く残っていることが示唆された。
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