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Genome-wide association studies on HIV susceptibility, pathogenesis and pharmacogenomics

Daniëlle van Manen12, Angélique B van ‘t Wout12 and Hanneke Schuitemaker12*

Author Affiliations

1 Department of Experimental Immunology, Sanquin Research, Landsteiner Laboratory, and Center for Infectious Diseases and Immunity Amsterdam (CINIMA), Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands

2 Crucell Holland B.V., Archimedesweg 4-6, 2333 CN, Leiden, The Netherlands

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Retrovirology 2012, 9:70  doi:10.1186/1742-4690-9-70

Published: 24 August 2012


Susceptibility to HIV-1 and the clinical course after infection show a substantial heterogeneity between individuals. Part of this variability can be attributed to host genetic variation. Initial candidate gene studies have revealed interesting host factors that influence HIV infection, replication and pathogenesis. Recently, genome-wide association studies (GWAS) were utilized for unbiased searches at a genome-wide level to discover novel genetic factors and pathways involved in HIV-1 infection. This review gives an overview of findings from the GWAS performed on HIV infection, within different cohorts, with variable patient and phenotype selection. Furthermore, novel techniques and strategies in research that might contribute to the complete understanding of virus-host interactions and its role on the pathogenesis of HIV infection are discussed.

Genome-wide association studies; Single-nucleotide polymorphisms; Host genetics; HIV susceptibility; HIV pathogenesis