| Description |
Recent studies have uncovered many genes associated with various human diseases or phenotypes. However, it remains unknown how European-Asian-differentiated alleles affect individual phenotypes. Here, we made the first effort to analyze the expression profiles of highly differentiated genes with eastern and western origins in 90 Uyghurs via whole-genome and transcriptome data for individuals. We screened 921,872 highly differentiated genetic variants between East Asian and European populations, of which 39,854 (~4.32%) were expression quantitative trait loci (eQTLs) for 294 genes; 1,063 (~0.12%) were alternative splicing quantitative trait loci (sQTLs) for 87 genes, and 1,067 (~0.12%) showed allele-specific expression (ASE) of 690 genes. Notably, the 8,305 highly differentiated eQTLs of strong effect appear to have undergone natural selection, correlated with immunity and metabolism. Interestingly, we observed that European-origin alleles tend to be biased expressed; in particular, highly differentiated ASE was enriched in T2D-susceptible genes such as UTS2, KCNQ1, and HMG20A, likely increasing diabetes susceptibility in the Uyghurs. We propose an admixture-induced regulation model to explain the highly differentiated expression patterns resulting from admixture. Our results provide new insights into the genetic basis of phenotypic differentiation between western and eastern populations, and advance our understanding of the impact of genetic admixture. |
