A neurologist's guide to genome-wide association studies

Neurology. 2009 Feb 10;72(6):558-65. doi: 10.1212/01.wnl.0000341942.29513.bd.

Abstract

Genome-wide association studies are utilized for gene discovery in common diseases. Genotypes of large groups of unrelated patients are compared to controls. This has become feasible due to the recent technical advances in genomics and convincing positive results are now regularly being published. This review is an accessible introduction to the genetic and technical knowledge needed to interpret such studies. Genome-wide association studies are being applied to many neurologic diseases. Here we use idiopathic generalized epilepsy as an example to highlight the phenotyping, sample size, and statistical issues that must be addressed in such studies. These studies are likely to transform our understanding of complex neurologic diseases in the next few years.

Publication types

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

MeSH terms

  • Chromosome Mapping / methods*
  • Clinical Trials as Topic*
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Genome-Wide Association Study / methods*
  • Humans
  • Nervous System Diseases / epidemiology*
  • Nervous System Diseases / genetics*
  • Polymorphism, Single Nucleotide / genetics*