Natural variation in human gene expression assessed in lymphoblastoid cells

Nat Genet. 2003 Mar;33(3):422-5. doi: 10.1038/ng1094. Epub 2003 Feb 3.


The sequencing of the human genome has resulted in greater attention to genetic variation among individuals, and variation at the DNA sequence level is now being extensively studied. At the same time, it has become possible to study variation at the level of gene expression by various methods. At present, it is largely unknown how widespread this variation in transcript levels is over the entire genome and to what extent individual differences in expression level are genetically determined. In the present study, we used lymphoblastoid cells to examine variation in gene expression and identified genes whose transcript levels differed greatly among unrelated individuals. We also found evidence for familial aggregation of expression phenotype by comparing variation among unrelated individuals, among siblings within families and between monozygotic twins. These observations suggest that there is a genetic contribution to polymorphic variation in the level of gene expression.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Female
  • Gene Expression Profiling
  • Gene Expression*
  • Genetic Variation*
  • Humans
  • Lymphocytes / metabolism*
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Pedigree
  • Phenotype
  • Polymorphism, Genetic
  • Twins, Monozygotic / genetics