title: No Evidence for Association of β-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS.
abstract: 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 set point). 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 antiretroviral 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 set point. We find no evidence 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 argue against an effect of copy number variation of the β-defensin region in the spontaneous control of HIV infection.
authors.affiliation: Department of Genetics, University of Leicester, Leicester, UK.
authors.forename: Razan
authors.initials: R
authors.lastname: Abujaber
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, New York, USA.
authors.forename: Patrick R
authors.initials: PR
authors.lastname: Shea
authors.affiliation: National HIV and Retrovirology Laboratory, Public Health Agency of Canada, Winnipeg, Canada.|Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, Canada.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: McLaren
authors.affiliation: International AIDS Vaccine Initiative (IAVI), New York, New York, USA.|Zambia-Emory HIV Research Project, Lusaka and Copperbelt, Zambia.
authors.forename: Shabir
authors.initials: S
authors.lastname: Lakhi
authors.affiliation: International AIDS Vaccine Initiative (IAVI), New York, New York, USA.|IAVI Human Immunology Laboratory, Imperial College, London, United Kingdom.
authors.forename: Jill
authors.initials: J
authors.lastname: Gilmour
authors.affiliation: International AIDS Vaccine Initiative (IAVI), New York, New York, USA.|School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.
authors.forename: Susan
authors.initials: S
authors.lastname: Allen
authors.affiliation: Emory University, Atlanta, Georgia, USA.
authors.forename: Jacques
authors.initials: J
authors.lastname: Fellay
authors.affiliation: Department of Genetics, University of Leicester, Leicester, UK.
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Hollox
authors.affiliation: Department of Genetics, University of Leicester, Leicester, UK.
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000235:genetics* / Q000821:virology; D000328:Adult; D056915:DNA Copy Number Variations; D018450:Disease Progression; D005260:Female; D018628:Gene Dosage; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D015497:HIV-1 / Q000502:physiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019562:Viral Load; D023083:beta-Defensins / Q000235:genetics*
chemical_list: D023083:beta-Defensins
keywords: AIDS
  ; CNV; HIV-1; copy number variation; β-defensin