1. Confirmed, at the genome level, the critical importance of the Major Histocompatibility Complex on chromosome 6 and highlighted a novel role for one of the genes in this region, HLA-C in genome-wide association studies performed in both Europeans and African Americans.
2. Demonstrated that common genetic variants are unlikely to explain more than 20% of the variability in HIV viral load at set point, that is, the time after infection when the individual begins to produce HIV antibodies and his immune system attempts to fight the virus.
1. Genome-wide association studies searching for genetic correlates of resistance against infection among diverse samples; hemophiliacs exposed to contaminated blood, homosexual men with high-risk exposure, and uninfected children born to infected mothers.
2. Moving toward a systems biology approach by developing programs that integrate information from multiple biological sources: gene variants, gene expression, protein levels, and metabolites.
3. Resequencing studies using second-generation sequencing technology to look for variants protecting against HIV acquisition.
4. Studying HIV-infected patients with very rapid or very slow disease progression to identify gene variants that are directly responsible for phenotypic variations.
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Urban et al. CCL3L1 copy number is not associated with risk of HIV-1 infection or disease outcomes in a large cohort of treatment naïve adults. Nature Medicine 2009; 15:1110-2
Fellay J. Host genetics influences on HIV-1 disease. Antiviral Therapy 2009; 10.3851/IMP1253
Fellay et al. Common genetic variation and the control of HIV-1 in humans. PLoS Genetics 2009; 5(12):e1000791
Pelak et al. Host determinants of HIV-1 control in African Americans. Journal of Infectious Diseases 2010 Mar 5 [Epub]
Yoon et al.A polymorphism in the HCP5 gene associated with HLA-B*5701 does not restrict HIV-1 in vitro.AIDS 2010; 24(1):155-7