Genome-wide association studies: Progress and potential for drug discovery and development

National Center for Genome Resources, 2935 Rodeo Park Drive East, Santa Fe, New Mexico 87505, USA.
Nature Reviews Drug Discovery (Impact Factor: 41.91). 04/2008; 7(3):221-30. DOI: 10.1038/nrd2519
Source: PubMed


Although genetic studies have been critically important for the identification of therapeutic targets in Mendelian disorders, genetic approaches aiming to identify targets for common, complex diseases have traditionally had much more limited success. However, during the past year, a novel genetic approach - genome-wide association (GWA) - has demonstrated its potential to identify common genetic variants associated with complex diseases such as diabetes, inflammatory bowel disease and cancer. Here, we highlight some of these recent successes, and discuss the potential for GWA studies to identify novel therapeutic targets and genetic biomarkers that will be useful for drug discovery, patient selection and stratification in common diseases.

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Available from: Stephen F Kingsmore, Jan 04, 2014
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    • "Resources provided by HapMap can aid the implementation of genome-wide association studies (GWAS). GWAS is a powerful method used to identify complex disease associated common genetic variants by statistically analyzing the differences between sequences of normal people and patients at a whole genome level on SNP arrays [17] [19]. Moreover, The Cancer Genome Atlas (TCGA, http :/ /cancergenome .nih "
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    • "Single-nucleotide polymorphisms (SNPs) are alterations in DNA at the single base level that are the most frequent variations in human genome (Kwok et al., 1996; Collins et al., 1998). The high density and distribution of SNPs make them suitable for association studies, population genetics, and indirect diagnosis (Brookes, 1999; Kingsmore et al., 2008). Many techniques for genotyping had been designed based on polymerization such as allele-specific primers and tetraprimer amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) (Ugozzoli and Wallace, 1991; Ye et al., 2001). "
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    • "Considering the limitation of current molecular data, in this study, we did not explore the molecular mechanisms underlying the adverse drug interactions of SCZ drugs. However, a large volume of genome-wide molecular neuropharmacology data, such as microarray gene expression [31] and genome-wide association studies [32], is available, and more large-scale data will be available in the near future due to the rapid advances in genome-wide technologies and strong support from pharmacology communities. Therefore, it is possible and necessary to develop novel detection methods for investigation of adverse DDIs based on the molecular data. "
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