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

American Journal of Human Genetics
Shuhua XuLi Jin

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 Han. However, simulated case-control studies showed that genetic differentiation among these clusters, although very small (F(ST) = 0.0002 approximately 0.0009), is sufficient to lead to an inflated rate of false-positive results even when the sample size is moderate. The top two SNPs with the greatest frequency differences between the northern Han and southern Han clusters (F(ST) > 0.06) were found in the FADS2 gene, which associates with the f...Continue Reading

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Citations

Feb 23, 2013·Journal of Molecular Neuroscience : MN·Enxi HuEnzhong Liu
Jul 16, 2013·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Yuqing LouBaohui Han
Jul 28, 2011·European Journal of Human Genetics : EJHG·Chen SuoYik-Ying Teo
Aug 27, 2010·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Yuqing LouShaojun Wen
Sep 2, 2011·Hypertension Research : Official Journal of the Japanese Society of Hypertension·Wei GuShaojun Wen
Oct 22, 2010·Molecular Biology and Evolution·Shuhua XuLi Jin
Jul 19, 2013·Genome Research·Gaurav BhatiaAlkes L Price
Oct 29, 2013·BMC Musculoskeletal Disorders·Meng YangGuodong Pang
Nov 17, 2011·PloS One·Haiyi LouShuhua Xu

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