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Table 1 Description of GWAS on HIV infection and the most interesting signals discovered

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

cohort year Phenotype Most important association P-value Validation ethnicity ref
CHAVI 2007 RNA VL setpoint HCP5 (rs2395029) 9.4E-12 Significant, confirmed Caucasian [27]
    −35 HLA-C (rs9264942) 3.8E-09 Significant, confirmed   
   CD4 T cell decline ZNRD1 (rs9261174) 3.9E-07 Confirmed   
ANRS PRIMO 2008 plasma HIV RNA primary infection HCP5 (rs2395029) 9.3E-07 Significant, confirmed Caucasian [31]
   cellular HIV DNA primary infection HCP5 (rs2395029) 6.7E-07 Significant, confirmed   
GRIV 2009 long-term nonprogression HCP5 (rs2395029) 6.8E-10 Significant, confirmed Caucasian [32]
    C6orf48 (rs9368699) 5.3E-07 Putative   
Euro-CHAVI, MACS 2009 RNA VL setpoint HCP5 (rs2395029) 4.5E-35 Significant, confirmed Caucasian [33]
    −35 HLA-C (rs9264942) 5.9E-32 Significant, confirmed   
GRIV 2009 rapid progression PRMT6 (rs4118325) 6.1E-07 Putative Caucasian [34]
    SOX5 (rs1522232) 1.8E-06 Putative   
International HIV controllers study 2010 VL controllers >300 SNPs in MHC <5.0E-08 Significant Caucasian, African, Hispanic [35]
   −35 HLA-C (rs9264942) 2.8E-35 Significant, confirmed  
   HCP5 (rs2395029) 9.7E-26 Significant, confirmed  
   MICA (rs4418214) 1.4E-34 Significant  
   PSORSIC3 (rs3131018) 4.2E-16 Significant  
Queen Elizabeth Central Hospital, Malawi 2010 mother-to-child transmission HS3ST3A1 (rs8069770) 3.8E-05 Putative African [36]
MACS 2010 progression to AIDS PROX1 (rs17762192) 6.2E-07 Confirmed Caucasian [37]
DoD HIV NHS and MACS 2010 RNA VL setpoint HLA-B*5703 5.6E-10 Significant, confirmed African [38]
GRIV, MACS, ACS 2010 long-term nonprogression (VL > 100 cp/ml) CXCR6 (rs2234358) 9.7E-10 Significant, confirmed Caucasian [39]
CHAVI, Malawi 2011 HIV acquisition     African [40]
MACS 2011 progression to AIDS 1987 PARD3B (rs11884476) 3.4E-09 Significant, confirmed Caucasian, African [41]
blood donors, Sanquin Amsterdam 2011 in vitro HIV-1 replication in macrophages DYRK1A (rs12483205) 2.2E-05 Putative Caucasian [42]
ACS 2011 progression to AIDS, or AIDS-related death AGR3 (rs152363) 3.5E-06 Putative Caucasian [43]
Thailand 2011 Nevaripine tolerance CCHCR1 (rs1265112) 1.2E-08 Significant Asian [44]
African serodiscordant couples cohort 2011 HIV acquisition     African [45]
  1. VL; viral load.