Marker selection for genetic case-control association studies

Nat Protoc. 2009;4(5):743-52. doi: 10.1038/nprot.2009.38. Epub 2009 Apr 23.

Abstract

Association studies can focus on candidate gene(s), a particular genomic region, or adopt a genome-wide association approach, each of which has implications for marker selection. The strategy for marker selection will affect the statistical power of the study to detect a disease association and is a crucial element of study design. The abundant single nucleotide polymorphisms (SNPs) are the markers of choice in genetic case-control association studies. The genotypes of neighboring SNPs are often highly correlated ('in linkage disequilibrium', LD) within a population, which is utilized for selecting specific 'tagSNPs' to serve as proxies for other nearby SNPs in high LD. General guidelines for SNP selection in candidate genes/regions and genome-wide studies are provided in this protocol, along with illustrative examples. Publicly available web-based resources are utilized to browse and retrieve data, and software, such as Haploview and Goldsurfer2, is applied to investigate LD and to select tagSNPs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Genetic Markers
  • Genome, Human
  • Genome-Wide Association Study*
  • Genomics / methods*
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Polymorphism, Single Nucleotide*
  • Software

Substances

  • Genetic Markers