Genotypes and polymorphisms of mutant CCR5-Δ32, CCR2-64I and SDF1-3′A HIV-1 resistance alleles in indigenous Han Chinese

Objective To evaluate the frequencies and polymorphisms of CCR5-Delta 32, CCR2-641 and SDF1-3' A alleles conferring resistance to HIV-1 infection in Chinese population from Han ethnic origin. Methods This cohort was comprised of 1251 subjects (915 men and 336 women) aged 15 - 80 years and none was HIV-1 positive. Genotyping of allelic CCR5-Delta 32, CCR2-641 and SDF1-3' A variants was performed using PCR or PCR/RFLP assay, and further confirmed by direct DNA sequencing. Results Our finding shows that the Delta 32 deletion mutation in the CCR5 gene does occur in this population and can be inherited in a Mendelian fashion in indigenous Han Chinese at a very low frequency of 0.00119 (n = 1254). The frequencies of mutant CCR2-641 and SDF1-3' A alleles were 0.20023 (n = 1251) and 0.2873 ( n = 893), in this population, which are higher than those found in American Caucasians. Furthermore the polymorphisms of CCR2-641 and SDF1-3' A alleles in the Han Chinese population were different from those in American Caucasians. Statistical analysis showed that the genotype distribution of CCR5-Delta 32, CCR2-641 and SDF1-3' A alleles was in equilibrium according to the Hardy-Weinberg equation. Conclusion The CCR5-Delta 32 mutation may not be a major resistant factor against HIV-1 infection in indigenous Han Chinese. The significance of higher frequencies of CCR2-641 and SDF1-3' A alleles (0.20023 and 0.2791) in the Han population remains to be clarified in HIV-1-positive carriers and AIDS patients.