TY - JOUR
T1 - Detailed analysis of Japanese population substructure with a focus on the Southwest Islands of Japan
AU - Nishiyama, Takeshi
AU - Kishino, Hirohisa
AU - Suzuki, Sadao
AU - Ando, Ryosuke
AU - Niimura, Hideshi
AU - Uemura, Hirokazu
AU - Horita, Mikako
AU - Ohnaka, Keizo
AU - Kuriyama, Nagato
AU - Mikami, Haruo
AU - Takashima, Naoyuki
AU - Mastuo, Keitaro
AU - Guang, Yin
AU - Wakai, Kenji
AU - Hamajima, Nobuyuki
AU - Tanaka, Hideo
N1 - Copyright:
Copyright 2012 Elsevier B.V., All rights reserved.
PY - 2012/4/3
Y1 - 2012/4/3
N2 - Uncovering population structure is important for properly conducting association studies and for examining the demographic history of a population. Here, we examined the Japanese population substructure using data from the Japan Multi-Institutional Collaborative Cohort (J-MICC), which covers all but the northern region of Japan. Using 222 autosomal loci from 4502 subjects, we investigated population substructure by estimating F ST among populations, testing population differentiation, and performing principal component analysis (PCA) and correspondence analysis (CA). All analyses revealed a low but significant differentiation between the Amami Islanders and the mainland Japanese population. Furthermore, we examined the genetic differentiation between the mainland population, Amami Islanders and Okinawa Islanders using six loci included in both the Pan-Asian SNP (PASNP) consortium data and the J-MICC data. This analysis revealed that the Amami and Okinawa Islanders were differentiated from the mainland population. In conclusion, we revealed a low but significant level of genetic differentiation between the mainland population and populations in or to the south of the Amami Islands, although genetic variation between both populations might be clinal. Therefore, the possibility of population stratification must be considered when enrolling the islander population of this area, such as in the J-MICC study.
AB - Uncovering population structure is important for properly conducting association studies and for examining the demographic history of a population. Here, we examined the Japanese population substructure using data from the Japan Multi-Institutional Collaborative Cohort (J-MICC), which covers all but the northern region of Japan. Using 222 autosomal loci from 4502 subjects, we investigated population substructure by estimating F ST among populations, testing population differentiation, and performing principal component analysis (PCA) and correspondence analysis (CA). All analyses revealed a low but significant differentiation between the Amami Islanders and the mainland Japanese population. Furthermore, we examined the genetic differentiation between the mainland population, Amami Islanders and Okinawa Islanders using six loci included in both the Pan-Asian SNP (PASNP) consortium data and the J-MICC data. This analysis revealed that the Amami and Okinawa Islanders were differentiated from the mainland population. In conclusion, we revealed a low but significant level of genetic differentiation between the mainland population and populations in or to the south of the Amami Islands, although genetic variation between both populations might be clinal. Therefore, the possibility of population stratification must be considered when enrolling the islander population of this area, such as in the J-MICC study.
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U2 - 10.1371/journal.pone.0035000
DO - 10.1371/journal.pone.0035000
M3 - Article
C2 - 22509376
AN - SCOPUS:84859246966
VL - 7
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 4
M1 - e35000
ER -