Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies  Shuhua Xu, Xianyong Yin, Shilin Li, Wenfei Jin,

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Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies  Shuhua Xu, Xianyong Yin, Shilin Li, Wenfei Jin, Haiyi Lou, Ling Yang, Xiaohong Gong, Hongyan Wang, Yiping Shen, Xuedong Pan, Yungang He, Yajun Yang, Yi Wang, Wenqing Fu, Yu An, Jiucun Wang, Jingze Tan, Ji Qian, Xiaoli Chen, Xin Zhang, Yangfei Sun, Xuejun Zhang, Bailin Wu, Li Jin  The American Journal of Human Genetics  Volume 85, Issue 6, Pages 762-774 (December 2009) DOI: 10.1016/j.ajhg.2009.10.015 Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 1 Analysis of the First Two Principal Components The % Eigenvalue is the percentage of the total variance in the first ten PCs. (A) 1708 Han Chinese and 767 non-Han Chinese individuals representing all samples studied. (B) 1708 Han Chinese and 89 Japanese (JPT) individuals (excluding non-East Asian samples). (C) Han Chinese individuals (excluding all non-Han Chinese samples). (D) Han Chinese individuals (excluding CHB, CHD, three metropolitan populations [Beijing, Shanghai, Guangzhou], and two regional populations close to Shanghai [Anhui and Jiangsu]). The American Journal of Human Genetics 2009 85, 762-774DOI: (10.1016/j.ajhg.2009.10.015) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 2 Principal Components Analysis of Han Chinese Individuals (A) Analysis of PC1 and PC2 of Han Chinese. (B) Analysis of PC1 and PC3 of Han Chinese. (C) Geographical locations of three C-Han populations. (D) Distribution of PC1 for Han Chinese individuals as classified into three subgroups. The American Journal of Human Genetics 2009 85, 762-774DOI: (10.1016/j.ajhg.2009.10.015) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 3 Classification of Han Chinese Individuals into the Three Clusters For each population or group (x axis), individuals are assigned to three clusters. Percentages (y axis) are depicted by three colors representing three clusters. The American Journal of Human Genetics 2009 85, 762-774DOI: (10.1016/j.ajhg.2009.10.015) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 4 Relationship of PC1 and Latitude (A) Average PC1 and latitude of populations. The standard deviation of PC1 is also shown for each population. (B) Correlation of PC1 and latitude. The line in the plot shows the regression line (y = 0.0043x − 0.147). R2 for the linear regression of genetic distance on geographic distance is 0.69 (p = 1.27 × 10−7). The American Journal of Human Genetics 2009 85, 762-774DOI: (10.1016/j.ajhg.2009.10.015) Copyright © 2009 The American Society of Human Genetics Terms and Conditions