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Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies 期刊论文

编号：

a7682d81-c9ef-4623-b84f-daabff9ff1e1
作者：

Xu, Shuhua^[1,2];Yin, Xianyong^[6,7];Li, Shilin^[3,4,5];Jin, Wenfei^[1,2];Lou, Haiyi^[1,2];Yang, Ling^[1,2];Gong, Xiaohong^[3,4,5];Wang, Hongyan(王红艳)^[3,4,5]Shen, Yiping^[3,4,5,8];Pan, Xuedong^[3,4,5];He, Yungang^[1,2];Yang, Yajun^[3,4,5];Wang, Yi^[3,4,5];Fu, Wenqing^[3,4,5];An, Yu^[3,4,5];Wang, Jiucun^[3,4,5];Tan, Jingze^[3,4,5];Qian, Ji^[3,4,5];Chen, Xiaoli^[8];Zhang, Xin^[3,4,5];Sun, Yangfei^[3,4,5];Zhang, Xuejun^[6,7];Wu, Bailin^[3,4,5,8];Jin, Li^{[1,2,3,4,5,9]};
语种：

English
期刊：

AMERICAN JOURNAL OF HUMAN GENETICS ISSN：0002-9297 2009 年 85 卷 6 期 (762 - 774) ; DEC 11
收录：
摘要：

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 under-represented 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 similar to 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 similar to 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 fatty acid composition in phospholipids, and in the HLA complex PS gene (HCP5), which associates with HIV infection, psoriasis, and psoriatic arthritis. Ingenuity Pathway Analysis (IPA) showed that most differentiated genes among clusters are involved in cardiac arteriopathy (p < 10(-101)). These signals indicating significant differences among Han Chinese subpopulations should be carefully explained in case they are also detected in association studies, especially when sample sources are diverse.
推荐引用方式
GB/T 7714：

Xu Shuhua,Yin Xianyong,Li Shilin, et al. Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies [J].AMERICAN JOURNAL OF HUMAN GENETICS,2009,85(6):762-774.
APA：

Xu Shuhua,Yin Xianyong,Li Shilin,Jin Wenfei,&Jin Li.(2009).Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies .AMERICAN JOURNAL OF HUMAN GENETICS,85(6):762-774.
MLA：

Xu Shuhua, et al. "Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies" .AMERICAN JOURNAL OF HUMAN GENETICS 85,6(2009):762-774.

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