Japanese Population Structure, Based on SNP Genotypes from 7003 Individuals Compared to Other Ethnic Groups: Effects on Population-Based Association Studies

Yumi Yamaguchi-Kabata, Kazuyuki Nakazono, Atsushi Takahashi, Susumu Saito, Naoya Hosono, Michiaki Kubo, Yusuke Nakamura, Naoyuki Kamatani

Research output: Contribution to journalArticle

245 Citations (Scopus)

Abstract

Because population stratification can cause spurious associations in case-control studies, understanding the population structure is important. Here, we examined Japanese population structure by "Eigenanalysis," using the genotypes for 140,387 SNPs in 7003 Japanese individuals, along with 60 European, 60 African, and 90 East-Asian individuals, in the HapMap project. Most Japanese individuals fell into two main clusters, Hondo and Ryukyu; the Hondo cluster includes most of the individuals from the main islands in Japan, and the Ryukyu cluster includes most of the individuals from Okinawa. The SNPs with the greatest frequency differences between the Hondo and Ryukyu clusters were found in the HLA region in chromosome 6. The nonsynonymous SNPs with the greatest frequency differences between the Hondo and Ryukyu clusters were the Val/Ala polymorphism (rs3827760) in the EDAR gene, associated with hair thickness, and the Gly/Ala polymorphism (rs17822931) in the ABCC11 gene, associated with ear-wax type. Genetic differentiation was observed, even among different regions in Honshu Island, the largest island of Japan. Simulation studies showed that the inclusion of different proportions of individuals from different regions of Japan in case and control groups can lead to an inflated rate of false-positive results when the sample sizes are large.

Original languageEnglish
Pages (from-to)445-456
Number of pages12
JournalAmerican Journal of Human Genetics
Volume83
Issue number4
DOIs
Publication statusPublished - 10-10-2008

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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