From: Host factors influencing susceptibility to HIV infection and AIDS progression
Gene | Allele or factor | Mode | Effect | Mechanism of action | Frequency(1) | References |
---|---|---|---|---|---|---|
Chemokine Receptor | Â | Â | Â | Â | Â | Â |
CCR5 | Δ32 | Recessive | Resistance to infection | Truncated co-receptor is not expressed at the cell surface. | Caucasians (4–15%) | 25, 30, 31 |
CCR5 | Δ32 | Dominant | Delay AIDS | Reduced co-receptor expression. | Caucasians (4–15%) | 38–41 |
CCR5 | C20S | Dominant | Prevent HIV infection in the presence of Δ32 | Very low co-receptor expression. Loss of disulfide bridge, improper folding? | Caucasians (0.3%) | 49, 51 |
CCR5 | A29S | Unknown (2) | Not evaluated | Failure to bind RANTES, MIP-1β and MIP-1α | Africans (1.5%) | 49,51 |
CCR5 | R60S | Unknown (2) | Not evaluated | Poor co-receptor internalization | Africans (1.3%) | 51 |
CCR5 | C101X | Dominant | Prevent HIV infection in the presence of Δ32 | Truncated co-receptor not expressed at cell surface | Africans (1.4%) | 49, 51, 52 |
CCR5 | G106R | Unknown(2) | HIV resistance/Delay AIDS? | Very low co-receptor expression | Asians (1.4%) | 50 |
CCR5 | C178R | Unknown(2) | HIV resistance/Delay AIDS? | Very low co-receptor expression | Asians (0.5%) | 49 |
CCR5 | C269F | Unknown(2) | HIV resistance/Delay AIDS? | Very low co-receptor expression. Loss of disulfide bridge, improper folding? | Asians (1.4%) | 49, 50 |
CCR5 | FS299 | Unknown(2) | No effect on HIV transmission | Truncated co-receptor, poorly expressed | Asians (4%) | 49 |
CCR5 | P1 (promoter haplotype) | Recessive | Accelerate AIDS | Increase CCR5 expression? | Unknown | 53 |
CCR5 | 59029-A/A (promoter) | Recessive | Accelerate AIDS | Increase CCR5 expression | Caucasians (57%) | 54 |
CCR2 | 64I | Dominant | Delay AIDS in some cohorts | Influence CCR5 or CXCR4 expression? | General (10–20%) | 62, 64, 66, 67 |
CX3CR1 | I249/M280 | Recessive | Accelerate AIDS? | Influence recruitment of immune cells? | Caucasians (I249: 26%; M280: 14%) | 69, 71 |
Chemokine | Â | Â | Â | Â | Â | Â |
MIP-1αP (CCL3L1) | Gene copy number |  | Increase susceptibility to infection | Copy number correlates with levels of CCR5 agonist. Block HIV entry | Africans (5–7 mean copy number) | 96 |
MIP-1β(CCL4L1) | L2 | Dominant | Increase susceptibility to infection | Reduced level of MIP-1β | Caucasians (16%) | 97 |
RANTES (CCL5) | -403A (promoter) | Dominant | Delay AIDS | Up-regulate RANTES transcription | Asians (27%) | 100–102 |
RANTES (CCL5) | -28G (promoter) | Dominant | Delay AIDS | Up-regulate RANTES transcription | Asians (8%), rare in Caucasians | 100–102 |
RANTES (CCL5) | In1.1C (intronic) | Dominant | Accelerate AIDS | Down-regulate RANTES transcription | General (14–17%) | 106 |
SDF-1 (CXCL12) | 3'A | Recessive | Delay AIDS? | Unknown. | Asians (25–35%) Oceanian (50–70%) | 112, 113 |
MCP1/MCP3/Eotaxin | H7 haplotype | Dominant | Decrease susceptibility to infection | Unknown immunomodulatory effects | Caucasians (19%) | 118 |