The success of the genome-wide association approach: a brief story of a long struggle

Eur J Hum Genet. 2008 May;16(5):554-64. doi: 10.1038/ejhg.2008.12. Epub 2008 Feb 20.


The genome-wide association approach has been the most powerful and efficient study design thus far in identifying genetic variants that are associated with complex human diseases. This approach became feasible as the result of several key advancements in genetic knowledge, genotyping technologies, statistical analysis algorithms and the availability of large collections of cases and controls. With all these necessary tools in hand, many genome-wide association studies were recently completed, and many more studies which will explore the genetic basis of various complex diseases and quantitative traits are soon to come. This approach has started to reap the fruits of its labor over the past several months. Publications of genome-wide association studies in several complex diseases such as inflammatory bowel disease, type-2 diabetes, breast cancer and prostate cancer have been abundant in the first half of this year. The aims of this review are firstly, to provide a timely summary for most of the genome-wide association studies that have been published until June/July 2007 and secondly, to evaluate to what extent these results have been validated in subsequent replication studies.

Publication types

  • Review

MeSH terms

  • Disease
  • Genetic Predisposition to Disease*
  • Genome, Human*
  • Genomics* / trends
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide / genetics