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Differential Gene Expression between Han Chinese and Japanese Yuan Yuan Prof. Shuhua Xu’s group Population genomic group PICB Chinese and Japanese are very similar in phenotype. Expression variation among Chinese and Japanese individuals Illumina's commercial whole genome expression array, Sentrix Human-6 Expression BeadChip version 2 These arrays utilize a bead pool with ~48,000 unique bead types Each with several hundred thousand gene-specific 50mer probes attached. Differently expressed Genome locations of 768 DE genes Functional enrichment of 768 DE genes Gene Ontology category #Genes a cluster Cellular metabolic process 391 RNA processing 50 Gene expression 213 RNA splicing 30 mRNA metabolic process 35 mRNA processing 31 Metabolic process 420 Nucleobase, nucleoside, nucleotide 225 and nucleic acid metabolic process Protein folding 20 Cellular protein metabolic process 153 in #Other genesb 6812 470 3368 237 309 271 7717 3719 P-value for c enrichment 0.000 0.000 0.002 0.002 0.003 0.009 0.012 0.019 147 2385 0.034 0.043 Identify local (Cis) and distant (Trans) genetic regulators that associate with gene expression difference Population Cis: # genes(snps) Trans: # genes(snps) CHB 39 (306) 271 (4544) JPT 68 (648) 92 (1216) 10 15 20 25 −log2(pvalue) CHB ● ● ● ● ● ●● ●● ●● ● ●●● ●● ●●●● −1000 −500 ● ●●● ●●●●●●● ●● ● ●●●●●●●● ●● ●● ● ●●●● ● ●●●● ● ● ● ● ● ● ● ● ● ●●●● ● ● ● ● ● ● ● ● ●●● ● ● ● ●● ● ● ● ● ● ● ● ●● ● ●● ●●●●● ●●● ●● ●● ●●● ●●●●●●●●● ●● ●●●●●●●●● ●● ●● ●●●●● ● ●●● ● ● ●●● ● ● ●●● ● ● ● ●●● ●●● ●● ●●●●●●●● ●●●●● ● ● ●● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ●●●●●●●●●●● ●●● ●● ● ● ●●●●● ● ●● 0 ● ● ● ● ● ●● ● ●● ● ●● ●●● ● 500 1000 Distance to TSS (kb) 40 30 ●●●●●●●●● ●● ●●●●● ●●●●●● ●● ● ●●● ● ●●●●●●●●●● ●●● ● ●●●● ●●● ●● ● ● ● ● ● ● ●● ● ●● ●● ● ●●● ●●●●● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ●● ●● ●● ●●● ●●● ●● ●●●●●●●●●●●● ●●●●● ●●● ● ● ●● ●●●●● ●●● ●●●● ● ● ● ● ●●●●● ● ●● ●●●● ● ● ●● ●● ●● ●●●●●●●●●●● ●● ● ● ● ●● ●●● ● ●● ● ●●●●● ● ● ● ● ●● ●● ● ● ●●● ● ● ● ● ● ●● ●● ● ● ● ● ● ●●●●● ● ● ●● ●● ● ●● ●●●● ● ● ●● ● ● ● ●● ● ● ● ● ● ● ● ● ●● ● ● ●●●● ●● ● ● ● ● ●●● ●●●●●●●●● ● ●● ●●●●●●●●●●●●●●● ●● ●●● ● ●● ●● ● ●●●●● ● ● ●●● ●● ●● ●● ●● ●●●●●●● ● ● ● 20 10 −log2(pvalue) JPT ● ●● ● ● ● −1000 ●● −500 0 Distance to TSS (kb) 500 ●●●●●●● ● ●● ●● ● ● 1000 ● 2 Gene CTSS PHB2 GCAT GOLIM4 DPP7 MRPL54 PIGB GMCL1 LIN52 DHRS4 DCAF10 P value 7.02E-07 3.11E-07 9.42E-08 2.67E-08 3.57E-07 2.70E-06 2.30E-06 5.78E-11 6.71E-08 4.68E-08 1.94E-06 CHB JPT expression expression 0.02 -0.02 -0.01 0.01 -0.02 0.02 -0.02 0.02 -0.02 0.01 -0.01 0.01 -0.01 0.01 -0.02 0.02 -0.02 0.02 -0.02 0.02 -0.01 0.01 Cis represented SNP rs12085336 rs11541468 rs5756825 rs7620923 rs13631 rs12459781 rs11071185 rs11126251 rs8006297 rs2332152 rs726363 2 R due to Pvalue for Pvalue for genotype association(CHB) association(JPT) variation 7.98E-10 7.54E-18 0.43 2.26E-09 3.23E-06 0.29 8.20E-06 1.62582E-05 0.29 9.54E-11 1.63E-06 0.28 1.07E-07 6.58E-06 0.27 1.96998E-05 1.16E-09 0.27 8.65E-06 1.64E-06 0.25 4.48919E-05 1.35157E-05 0.21 4.54423E-05 1.53141E-05 0.19 >1E-04 1.93953E-05 0.09 >1E-04 9.83721E-05 0.07 R due to population sepecific genotype effect 0.14 0.12 0.06 0.17 0.11 0.1 0.1 0.18 0.14 0.16 0.12 rs7412746 CHB JPT −0.15 −0.05 0.00 0.05 0.10 ENSG00000163131 37 35 CC 35 36 7 CT 10 TT Melanoma rs2224391 −0.10 −0.05 0.00 0.05 ENSG00000145982 CHB JPT 44 51 AA 27 23 AC 8 7 CC Height rs6494537 −0.15 −0.10 0.00 0.00 0.10 0.10 ENSG00000074696 CHB JPT 1 11 CC 28 27 CT 50 43 TT Hematological and biochemical tr aits CTSS vs cis-SNPs ●● ● 0.0 ● ● ● ●● ● ●● ● ●● ● ● ● ●● ● ● ●● ● ● ● ● ●● ● ● ● ●● ●● ● ● ● ● ● ● ● ●●● ●● ● ● ● ● ●●●● ● ● ● ● ● ● ● ● ●● ●●●● ● ● ● ● ● ●● ●●● ● ● ●● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ●● ●● ● ●●● ● ●● ● ●●● ●● ●● ● ● ● ● ●●● ● ●●● ● ● ● ● ● ● ● ● ●● ● ●●●● ●●● ● ●● ● ● ●● ●● ●● ●●●● ●● ● ● ● ●● ●●●● ●●●● ● ● ● ● ●● ●●●●● ●● ●● ● ●● ●● ● ● ● ● ● ●● ●● ● ●● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ●●●● ●● ●●●●●●●●● ● ● ●●● ● ● ● ●● ●● ●● ● ● ● ●● ●●●●● ●● ● ●●●●● ●●●● ● ● ●●● ●●● ● ●● ●● ● ●●● ● ● ● ●● ● ●●● ● ●●● ● ● ● ● ● ●● ●● ●● ● ● ● ● ● ●● ● ● ●●● ●● ● ●● ●●● ●● ● ●●●●●● ●●● ●●● ●● ●● ●●● 1.0 |iHS| 2.0 3.0 CHB 150000000 ●● 150500000 151000000 151500000 Position on Chr1 ●● ● ● ●● ● 1.0 ●● 0.0 |iHS| 2.0 3.0 JPT ●● ● ●● ● ● ●● ●● ● ● ● ● ● ● ● ●● ● ●● ● ●● ● ● ●● ● ● ● ●● ●● ● ●● ● ●● ● ●●● ● ● ● ● ● ●● ● ●● ● ● ● ● ● ●● ●●● ● ● ●●●● ●●● ●● ●● ● ● ● ● ● ● ● ● ● ●● ●●● ● ●●●● ●● ● ●●●●● ● ●● ● ●● ●● ●●●●● ●●●● ● ●● ● ● ● ● ●● ● ●● ●●●●●●● ●● ●●●● ● ● ●● ●● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ●● ●● ●● ● ● ●● ●● ● ●● ● ●● ●● ●● ●●● ●● ●●●● ● ●●● ●● ●●●●●● ●● ●● ●●●●●● ● ● ● ● ● ●● ●●●● ● ● ●●● ●● ●●●● ● ●●● ● ●● ●● ●●●● ●● ● ●●● ●● ● ● ●● ● ● ●● ● ●●● ● ●● ● ● ●●● ● ●●●●● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ● ●●● ●● ● ● ●●●● ● ● ● ● ●● ● 150000000 150500000 151000000 Position on Chr1 151500000 Dr. Shuhua Xu Yang ling, Lu dongsheng, Shi meng, Lou haiyi Jin wenfei, Pankaj All in population genomics group