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No Evidence for Association of β-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS

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posted on 2016-11-15, 10:26 authored by Razan Abujaber, P. Shea, P. McLaren, S. Lakhi, J. Gilmour, S. Allen, J. Fellay, Edward Hollox, IAVI Africa HIV prevention Partnership, Swiss HIV Cohort Study
Common single nucleotide variation in the host accounts for 25% of the variability in the plasma levels of HIV during the clinical latency stage (viral load setpoint). However, the role of rare variants and copy number variants remains relatively unexplored. Previous work has suggested copy number variation of a cluster of β-defensin genes affects HIV load in treatment-naïve sub-Saharan Africans and rate of response to anti-retroviral treatment. Here we analyse a total of 1827 individuals from two cohorts of HIV-infected individuals from Europe and sub-Saharan Africa to investigate the role of β-defensin copy number variation on HIV load at setpoint. We find no evidence of for association of copy number with viral load. We also compare distribution of β-defensin copy number between European cases and controls and find no differences, arguing against a role of β-defensin copy number in HIV acquisition. Taken together, our data argues against an effect of copy number variation of the β-defensin region in the spontaneous control of HIV infection.


This study has been partly supported by the Swiss National Science Foundation (Swiss HIV Cohort Study, grant #148522), by SHCS project #651, the SHCS research foundation and NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI) grant AI067854.



Annals of Human Genetics, 2017, 81, pp. 27–34.

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/Organisation/COLLEGE OF MEDICINE, BIOLOGICAL SCIENCES AND PSYCHOLOGY/MBSP Non-Medical Departments/Department of Genetics


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