Possible influence of the mutant CCR5 allele on vertical transmission of HIV-1

✍ Scribed by Mandl, Christian W.; Aberle, Stephan W.; Henkel, Judith H.; Puchhammer-Stöckl, Elisabeth; Heinz, Franz X.

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 69 KB
• Volume: 55
• Category: Article
• ISSN: 0146-6615
• DOI: 10.1002/(sici)1096-9071(199805)55:1<51::aid-jmv9>3.0.co;2-n

✦ Synopsis

A possible correlation between the rate of vertical transmission of HIV-1 and the presence of the defective HIV co-receptor gene ⌬32ccr5 in the chromosomes of infants born to HIV-positive mothers was assessed. The prevalence and genotypic distribution of the ⌬32ccr5 gene were studied in 451 uninfected and 225 HIV-1-infected adults and 79 children born to HIV-1-positive mothers in Austria (45 uninfected and 34 infected by vertical transmission). As expected in a Caucasian population, the ⌬32ccr5 allele was found in uninfected Austrians at a frequency of 10% (17.3% heterozygotes and 1.3% ⌬32ccr5/ ⌬32ccr5 homozygotes, consistent with the expected Hardy-Weinberg distribution). The mutant allele frequency was 11.1% in uninfected children (17.8% heterozygotes, 2.2% homozygotes) and 9.6% in HIV-positive adults (19.1% heterozygotes but no ⌬32ccr5/⌬32ccr5 homozygotes). Among the group of 34 vertically infected children, however, there were only two heterozygotes and no ⌬32ccr5/⌬32ccr5 homozygotes, corresponding to a significantly reduced mutant allele frequency of 2.9% (P = 0.05 compared to HIV-negative children). These results suggest that CCR5/⌬32ccr5 heterozygous children are less susceptible to vertical transmission of HIV-1. The data also support the hypothesis that ⌬32ccr5 homozygous individuals are resistant to HIV-1 infection.