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To extend the understanding of host genetic determinants of HIV-1 control, we performed a genome-wide association study in a cohort of 2,554 infected Caucasian subjects. The study was powered to detect common genetic variants explaining down to 1.3% of the variability in viral load at set point. We provide overwhelming confirmation of three associations previously reported in a genome-wide study and show further independent effects of both common and rare variants in the Major Histocompatibility Complex region (MHC). We also examined the polymorphisms reported in previous candidate gene studies and fail to support a role for any variant outside of the MHC or the chemokine receptor cluster on chromosome 3. In addition, we evaluated functional variants, copy-number polymorphisms, epistatic interactions, and biological pathways. This study thus represents a comprehensive assessment of common human genetic variation in HIV-1 control in Caucasians.

Original publication

DOI

10.1371/journal.pgen.1000791

Type

Journal article

Journal

PLoS Genet

Publication Date

12/2009

Volume

5

Keywords

Adult, Alleles, Disease Progression, Female, Genetic Variation, Genotype, HIV Infections, HIV-1, Humans, Kaplan-Meier Estimate, Major Histocompatibility Complex, Male, Phenotype, Polymorphism, Single Nucleotide, Viral Load