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Table 1 Chemokine and chemokine receptor variants modulating HIV transmission and pathogenesis

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       
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       
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
  1. (1) Allele frequency in populations in which the variant is more predominant. (2) No homozygous individuals have been identified