Distribution of two HIV-1-resistant polymorphisms (SDF1-3'A and CCR2- 64I) in east Asian and world populations and its implication in AIDS epidemiology

Bing Su, Li Jin, Fang Hu, Junhua Xiao, Jingchun Luo, Daru Lu, Weiling Zhang, Jiayou Chu, Ruofu Du, Zhencheng Geng, Xinfang Qiu, Jinglun Xue, Jiazhen Tan, Stephen J. O'Brien, Ranajit Chakraborty

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Chemokine receptor CCR2 and stromal-derived factor (SDF-1) are involved in HIV infection and AIDS symptom onset. Recent cohort studies showed that point mutations in these two genes, CCR2-64I and SDF1-3'A, can delay AIDS onset ≥16 years after seroconversions. The protective effect of CCR2-64I is dominant, whereas that of SDF1-3'A is recessive. SDF1-3'A homozygotes also showed possible protection against HIV-1 infection. In this study, we surveyed the frequency distributions of the two alleles at both loci in world populations, with emphasis on those in east Asia. The CCR2-64I frequencies do not vary significantly in the different continents, having a range of 0.1-0.2 in most populations. A decreasing cline of the CCR2-64I frequency from north to south was observed in east Asia. In contrast, the distribution of SDF1-3'A in world populations varies substantially, and the highest frequency was observed in Oceanian populations. Moreover, an increasing cline of the SDF1- 3'A frequency from north to south was observed in east Asia. The relative hazard values were computed to evaluate the risk of AIDS onset on the basis of two-locus genotypes in the east Asian and world populations.

Original languageEnglish
Pages (from-to)1047-1053
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - 1 Jan 1999


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