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.
journal_name
Nat Protocjournal_title
Nature protocolsauthors
Pettersson FH,Anderson CA,Clarke GM,Barrett JC,Cardon LR,Morris AP,Zondervan KTdoi
10.1038/nprot.2009.38subject
Has Abstractpub_date
2009-01-01 00:00:00pages
743-52issue
5eissn
1754-2189issn
1750-2799pii
nprot.2009.38journal_volume
4pub_type
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