title: The allele frequency of ALDH2*Glu504Lys and ADH1B*Arg47His for the Ryukyu islanders and their history of expansion among East Asians.
abstract: OBJECTIVE
  A cline of frequencies of the derived allele of the ALDH2 gene, which causes a deficiency of an enzyme and "facial flushing" in humans who drink alcohol, has been known among the people of the Japanese archipelago. This cline is conventionally explained by admixture with immigrants from the Asian continent occurring during the Yayoi period. Previous studies lack sufficient data from the peripheral regions of the indigenous Jomon people, and those data the ADH1B gene that is involved in the Class I ADH gene cluster and contains another variant leading to a functional change.
  
  
  METHODS
  We focused on the southwestern-most people from the Ryukyu Islands (n = 218) and those from northern Kyushu (n = 21) where the Yayoi immigrants likely arrived. We investigated both the Class I ADH and ALDH2 loci, as well as neutral genetic markers.
  
  
  RESULTS
  In the Ryukyu Islands, the frequencies of the ancestral alleles in both loci were always higher than those in mainland Japan, while the frequencies of ADH1B were less than those of the derived allele. A haplotype block was not observed in ALDH2 but was in Class I ADH.
  
  
  CONCLUSIONS
  Our data suggest that the derived allele of ALDH2 came with the Yayoi immigrants from the Asian continent to the Japanese archipelago. However, the derived allele of ADH1B is unlikely to be related to the Yayoi migration. Therefore, we postulate that the expansion of the derived allele of ADHIB in East Asia could be traced back to the last glacial period.
authors: Department of Biological Structure, Kitasato University Graduate School of Medical Sciences, Kanagawa, 252-0373, Japan.|Department of Integrated Biosciences, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, Chiba, 277-8562, Japan.
authors: Kae
authors: K
authors: Koganebuchi
authors: Haneji Oral Surgery Clinic, Medical Corporation Hayamakai, Okinawa, 906-0015, Japan.|Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, 903-0215, Japan.
authors: Kuniaki
authors: K
authors: Haneji
authors: Department of Oral and Maxillofacial Surgery, Adventist Medical Center, Okinawa, 903-0201, Japan.|Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, 903-0215, Japan.
authors: Takashi
authors: T
authors: Toma
authors: Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.
authors: Keiichiro
authors: K
authors: Joh
authors: Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.
authors: Hidenobu
authors: H
authors: Soejima
authors: Department of Internal Medicine, Faculty of Medicine, Saga University, Saga, 849-8501, Japan.
authors: Kazuma
authors: K
authors: Fujimoto
authors: Department of Human Biology and Anatomy, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, 903-0215, Japan.
authors: Hajime
authors: H
authors: Ishida
authors: Department of Biological Structure, Kitasato University Graduate School of Medical Sciences, Kanagawa, 252-0373, Japan.|Department of Anatomy, Kitasato University School of Medicine, Kanagawa, 252-0374, Japan.
authors: Motoyuki
authors: M
authors: Ogawa
authors: Department of Biological Structure, Kitasato University Graduate School of Medical Sciences, Kanagawa, 252-0373, Japan.|Department of Anatomy, Kitasato University School of Medicine, Kanagawa, 252-0374, Japan.|The University Museum, The University of Tokyo, Tokyo, 113-0033, Japan.
authors: Tsunehiko
authors: T
authors: Hanihara
authors: Ex-Institute of Community Medicine, University of Tsukuba, Ibaraki, 305-8575, Japan.
authors: Shoji
authors: S
authors: Harada
authors: Department of Integrated Biosciences, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, Chiba, 277-8562, Japan.
authors: Shoji
authors: S
authors: Kawamura
authors: Department of Biological Structure, Kitasato University Graduate School of Medical Sciences, Kanagawa, 252-0373, Japan.|Department of Integrated Biosciences, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, Chiba, 277-8562, Japan.|Department of Anatomy, Kitasato University School of Medicine, Kanagawa, 252-0374, Japan.
authors: Hiroki
authors: H
authors: Oota
mesh_terms: D000426:Alcohol Dehydrogenase / Q000235:genetics*; D000071396:Aldehyde Dehydrogenase, Mitochondrial / Q000235:genetics*; D005202:Asia, Eastern; D005260:Female; D005787:Gene Frequency; D006801:Humans; D062312:Islands; D007564:Japan; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: C489332:ADH1B protein, human; D000426:Alcohol Dehydrogenase; C096127:ALDH2 protein, human; D000071396:Aldehyde Dehydrogenase, Mitochondrial
keywords: ADH1B; ALDH2; Jomon people; Yayoi immigrants; peopling history