Human Gene Set: SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_2FC_UP
Standard name
SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_2FC_UP
Systematic name
M2267
Brief description
Genes up-regulated more than two-fold in lymphoblastoid cell lines from European population compared to those from Asian population.
Full description or abstract
Variation in DNA sequence contributes to individual differences in quantitative traits, but in humans the specific sequence variants are known for very few traits. We characterized variation in gene expression in cells from individuals belonging to three major population groups. This quantitative phenotype differs significantly between European-derived and Asian-derived populations for 1,097 of 4,197 genes tested. For the phenotypes with the strongest evidence of cis determinants, most of the variation is due to allele frequency differences at cis-linked regulators. The results show that specific genetic variation among populations contributes appreciably to differences in gene expression phenotypes. Populations differ in prevalence of many complex genetic diseases, such as diabetes and cardiovascular disease. As some of these are probably influenced by the level of gene expression, our results suggest that allele frequency differences at regulatory polymorphisms also account for some population differences in prevalence of complex diseases.
Collection
C2: Curated CGP: Chemical and Genetic Perturbations
