Genomic dissection of population substructure of Han Chinese and its implication in association studies.

ABSTRACT: To date, most genome-wide association studies (GWAS) and studies of fine-scale population structure have been conducted primarily on Europeans. Han Chinese, the largest ethnic group in the world, composing 20% of the entire global human population, is largely underrepresented in such studies. A well-recognized challenge is the fact that population structure can cause spurious associations in GWAS. In this study, we examined population substructures in a diverse set of over 1700 Han Chinese samples collected from 26 regions across China, each genotyped at approximately 160K single-nucleotide polymorphisms (SNPs). Our results showed that the Han Chinese population is intricately substructured, with the main observed clusters corresponding roughly to northern Han, central Han, and southern Ha

SUBMITTER: Xu S 

PROVIDER: S-EPMC2790582 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature