Human Gene Set: SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_2FC_DN


Standard name SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_2FC_DN
Systematic name M5754
Brief description Genes down-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
Source publication Pubmed 17206142   Authors: Spielman RS,Bastone LA,Burdick JT,Morley M,Ewens WJ,Cheung VG
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Source species Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
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identifier namespace		 HUMAN_GENE_SYMBOL
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Version history 3.0: First introduced

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