No evidence for association of β-defensin genomic copy number with HIV susceptibility, HIV load during clinical latency, or progression to AIDS. Annals of human genetics
The role of gene copy number variation, where the number of copies of the same gene differs between individuals, in affecting clinical parameters of HIV infection is of interest. Previous work has suggested that copy number variation of a cluster of β-defensin genes affects HIV load in treatment-naïve sub-Saharan Africans and rate of response to antiretroviral treatment.
In this work, Abujaber et al. aimed to explore the relationship between β-defensin copy number and HIV infection using a triplex paralogue ratio test for determining diploid copy number at the β-defensin region. The authors analyzed a total of 1’827 individuals from the International AIDS Vaccine Initiative (sub-Saharan Africans) and the Swiss HIV Cohort Study.
They found no evidence for association of copy number with viral load setpoint and HIV progression rate. They also compared distribution of β-defensin copy number between European cases and controls and found no differences, arguing against a role of β-defensin copy number in HIV acquisition.
Taken together, the data argue against an effect of copy number variation of the β-defensin region in the spontaneous control of HIV infection.