Human genetic variation and its contribution to complex traits

Nat Rev Genet. 2009 Apr;10(4):241-51. doi: 10.1038/nrg2554.

Abstract

The last few years have seen extensive efforts to catalogue human genetic variation and correlate it with phenotypic differences. Most common SNPs have now been assessed in genome-wide studies for statistical associations with many complex traits, including many important common diseases. Although these studies have provided new biological insights, only a limited amount of the heritable component of any complex trait has been identified and it remains a challenge to elucidate the functional link between associated variants and phenotypic traits. Technological advances, such as the ability to detect rare and structural variants, and a clear understanding of the challenges in linking different types of variation with phenotype, will be essential for future progress.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Base Sequence
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genome, Human
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Molecular Sequence Data
  • Phenotype*
  • Polymorphism, Single Nucleotide