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The Challenges, Advantages, and Future of Phenome-Wide Association Studies.

Immunology. 2013 Oct 22;

Authors: Hebbring SJ

Over the last decade, significant technological breakthroughs have revolutionized human genomic research in the form of Genome-Wide Association Studies (GWASs). GWASs have identified thousands of statistically significant genetic variants associated with hundreds of human conditions including many with immunological etiologies (e.g., multiple sclerosis, ankylosing spondylitis, and rheumatoid arthritis). Unfortunately, most GWASs fail to identify clinically significant associations. Identifying biologically significant variants by GWAS also presents a challenge. GWAS is a phenotype-to-genotype approach. As a complementary/alternative approach to the GWAS, investigators have begun to leverage extensive electronic medical record systems to conduct a genotype-to-phenotype approach when studying human disease-specifically, the Phenome-Wide Association Study (PheWAS). Although the PheWAS approach is in its infancy, this method has already demonstrated its capacity to rediscover important genetic associations related to immunological diseases/conditions. Furthermore, PheWAS has the advantage of identifying genetic variants with pleiotropic properties. This is particularly relevant for HLA variants. For example, PheWAS results have demonstrated that the HLA-DRB1 variant associated with multiple sclerosis may also be associated with erythematous conditions including rosacea. Likewise, PheWAS has demonstrated that HLA-B genotype is not only associated with spondylopathies, uveitis, and variability in platelet count, but may also play an important role in other conditions, such as mastoiditis, This review will discuss and compare general PheWAS methodologies, describe both the challenges and advantages of the PheWAS, and provide insight into the potential directions PheWAS may lead. This article is protected by copyright. All rights reserved.

PMID: 24147732 [PubMed - as supplied by publisher]

http://www.ncbi.nlm.nih.gov/pubmed/24147732?dopt=Abstract = URL to article

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