B. Su et al., Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3 ' A, CCR2-641, and CCR5-Delta 32) in global populations, EUR J HUM G, 8(12), 2000, pp. 975-979
Chemokine receptors (CCR5, CXCR4 and CCR2) have been shown to be important
co-receptors for HIV infection. Mutations at CCR5 (CCR5-Delta 32), CCR2 (CC
R2-641), and stromal-derived factor SDF1 (SDF1-3'A), a primary ligand for C
XCR4, are known to have protective effects against HIV-1 infection and the
onset of AIDS symptoms. We studied the three-locus genotype frequency distr
ibutions in 70 worldwide populations from a sample of 2341 individuals with
out any known history of HIV-1 infection and AIDS symptoms. From these data
, we estimated the risk of AIDS onset (relative hazard, RH) of each populat
ion. This survey shows that the substantial allele frequency differences of
each of these mutations translate into an extensive variation in relative
hazards for AIDS in worldwide populations. However, no evidence of natural
selection against the mutant gene carriers is detected. Finally, the combin
ed three-locus genotype data predict the highest relative hazard (RH) in So
uth-East Asia and Africa where AIDS is known to be more prevalent.