Profile genetic variability and population diversity of C-C chemokine receptor type 5 (CCR5) gene in HIV infection

Multiple studies have reported that CCR5 is related to the infection of HIV. However, the genetic variability among different populations has not been analyzed systematically. In this study, we analyzed CCR5 genetic variability using whole genome and whole exome sequencing data from a total of 141,456 individuals across seven human populations. Moreover, by predicting the functional consequences of all variants, we profiled the CCR5 deleterious variants in different countries and revealed large inter-population differences in CCR5 functions. We identified two common variants: one is delta 32 which has been reported showing the important impact on HIV infection and the other one is p.Leu55Gln. Overall, we found significant genetic variant-induced functional variability of CCR5 across major human populations, which can serve as important information to optimize population-specific genotyping strategies.