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. 2007 Aug 8:2:283-92.

Genome-wide association studies: progress in identifying genetic biomarkers in common, complex diseases

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Genome-wide association studies: progress in identifying genetic biomarkers in common, complex diseases

Stephen F Kingsmore et al. Biomark Insights. .

Abstract

Novel, comprehensive approaches for biomarker discovery and validation are urgently needed. One particular area of methodologic need is for discovery of novel genetic biomarkers in complex diseases and traits. Here, we review recent successes in the use of genome wide association (GWA) approaches to identify genetic biomarkers in common human diseases and traits. Such studies are yielding initial insights into the allelic architecture of complex traits. In general, it appears that complex diseases are associated with many common polymorphisms, implying profound genetic heterogeneity between affected individuals.

Keywords: Complex diseases; Complex traits; Genetic biomarkers; Genome-wide association studies; Population genetics.

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References

    1. Amundadottir LT, Sulem P, Gudmundsson J, et al. A common variant associated with prostate cancer in European and African populations. Nat Genet. 2006;38(6):652–8. - PubMed
    1. Baum AE, Akula N, Cabanero M, et al. A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Molecular Psychiatry. 2007:1–11. - PMC - PubMed
    1. Berry DA. Bayesian Statistics and the efficiency and ethics of clinical trials. Statistical Science. 2004;19:175–187.
    1. Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat Genet. 2003;33:228–37. - PubMed
    1. Cardon LR, Bell JI. Association study designs for complex diseases. Nat Rev Genet. 2001;2:91–99. - PubMed

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