Gene Expression

Population substructure in Japan

Dienekes points me to a new paper, Japanese Population Structure, Based on SNP Genotypes from 7003 Individuals Compared to Other Ethnic Groups: Effects on Population-Based Association Studies:

….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.

Nothing too surprising; much of the variation seems to follow axis of the Japanese archipelago. Remember that EDAR is a locus implicated in the typical form of many East Asians, and seems to have been under recent selection in that region. ABCC11 also seems to exhibit the same pattern in terms of worldwide frequency. Dienekes also posted some of the PC plots.

Related: Japanese Origins…., Genetic map of Europe; genes vary as a function of distance and The Genetic Map of Europe.