Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3′A, CCR2-64I, and CCR5-Δ32) in global populations

Abstract

Chemokine receptors (CCR5, CXCR4 and CCR2) have been shown to be important co-receptors for HIV infection. Mutations at CCR5 (CCR5-∆32), CCR2 (CCR2-64I), and stromal-derived factor SDF1 (SDF1-3'A), a primary ligand for CXCR4, are known to have protective effects against HIV-1 infection and the onset of AIDS symptoms. We studied the three-locus genotype frequency distributions in 70 worldwide populations from a sample of 2341 individuals without 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 population. 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 combined three-locus genotype data predict the highest relative hazard (RH) in South-East Asia and Africa where AIDS is known to be more prevalent. European Journal of Human Genetics (2000) 8, 975-979.

The effect of combined polymorphisms in chemokines and chemokine receptors on the clinical course of HIV-1 infection in a Brazilian population

“…It has been found in high frequencies in Oceania and in lower frequencies in Africa (Su et al 2000). In Brazil, Grimaldi et al (2010), studying the same three populations that were analysed by Acosta et al (2003) for CCR2-64I, found an allelic frequency of 21% in the population of the South, similar to the frequency found in this study (20.1%).…”

The Distribution of CCR2-64I, SDF1-3′A and MCP1-2518 G/A Genes Polymorphism in a Specific High Risk Group from the Northeastern States West Bengal, and Gorkha Population in India

“…Amongst the seropositive individuals the frequency was higher at 48 % though the difference was insignificant. Frequency of 48 and 24 % amongst a diverse population in Andhra Pradesh [18] and Northern India [26] respectively were recorded in [9,23]. We recorded only heterozygous mutants for CCR2-64I alleles.…”

Frequencies of CCR5-D32, CCR2-64I and SDF1-3’A mutations in Human Immunodeficiency Virus (HIV) seropositive subjects and seronegative individuals from the state of Pará in Brazilian Amazonia

“…A synergistic protective effect in individuals carrying SDF1-3'A and CCR2-64I would be consistent with this model. The SDF1-3'A allele is widely distributed, and has particularly high frequencies in Oceania, especially in New Guinean Highlanders (up to 72%), but is less common (3% to 12%) in African populations and has been found with frequencies between 15% and 22% in Europeans (Su et al, 1999(Su et al, , 2000. In urban Brazilian populations not tested for HIV infection the SDF1-3'A allele was found at frequency of 0.223 in the population of Belém (Carvalhaes et al 2004).…”

“…In Brazilian urban populations (HIV serological status not determined) the CCR5 variant has been found with frequencies between 0.030 and 0.065 (Passos and Picanço, 1998;Pereira et al, 2000;Munerato et al, 2003;Carvalhaes et al, 2004). This mutation is rare in Afro-Brazilians communities (0.008) and absent in Brazilian Amerindians (Leboute et al, 1999;Su et al, 2000;Grimaldi et al, 2002;Carvalhaes et al, 2004). Smith et al (1997) states that CCR2-64I is a G to A substitution that results in the replacement of valine with Genetics and Molecular Biology, 28, 4, 665-669 (2005) Copyright by the Brazilian Society of Genetics.…”

“…The CCR2-64I allele has been found at relatively high average frequencies in almost all populations studied to date, i.e. : European, 13%; African, 17%, Asian 13% (Su et al, 1999(Su et al, , 2000Martinson et al, 2000. A previous study performed on a sample of the general population of the northern Brazilian city of Belém, the capital of the state of Pará, population around 1,4 million (Brazilian Institute of Geography and Statistics -IBGE, 2004) in the Brazilian Amazon revealed the presence of the CCR2-64I mutation at a frequency of 0.161 (Carvalhaes et al, 2004) but higher frequencies have been found in Afro-Brazilians (0.230), whereas in Brazilian Amerindians the frequency of this mutation varies from 0.030 to 0.300 (Su et al, 1999;Acosta et al, 2003;Carvalhaes et al, 2004).…”