Reliability and utility of single nucleotide polymorphisms for genetic association studies
Part 2. Genomics
Published Online: 15 NOV 2005
Copyright © 2005 John Wiley & Sons, Ltd
Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics
How to Cite
Pearce, C. L. and Hirschhorn, J. N. 2005. Reliability and utility of single nucleotide polymorphisms for genetic association studies. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 2:2.6:69.
- Published Online: 15 NOV 2005
Single-nucleotide polymorphisms (SNPs) are the most common type of genetic variation in the human genome. Significant efforts have been made to attempt to understand their association to common diseases and complex traits. Genetic association studies, however, have been plagued by inconsistent results. The reliability of SNP-based association studies is reviewed in the light of their limited success. The validity, comprehensiveness, and usefulness of the public SNP database (dbSNP) is evaluated, followed by a detailed discussion of why these studies have proven so difficult to replicate. Potential approaches to minimize the inconsistency across studies are considered. We show that while the coverage of the public SNP database is adequate to conduct comprehensive and meaningful association studies, methodological concerns must be taken into account.
- single-nucleotide polymorphisms;
- genetic association studies;
- population substructure;
- linkage disequilibrium;
- multiple hypothesis testing