A major locus on chromosome 3p22 conferring predisposition to human herpesvirus 8 infection

Vincent Pedergnana, Antoine Gessain, Patricia Tortevoye, Minji Byun, Delphine Bacq-Daian, Anne Boland, Jean Laurent Casanova, Laurent Abel, Sabine Plancoulaine

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4 Scopus citations


Infection with human herpesvirus 8 (HHV-8), the etiological agent of Kaposi's sarcoma, has been shown to display strong familial aggregation, in countries in which HHV-8 infection is endemic. We investigated 40 large families (608 subjects aged one to 88 years) living in an isolated area of Cameroon in which HHV-8 is highly endemic. We performed a two-step genetic analysis for HHV-8 infection status (HHV-8/HHV-8 determined by immunofluorescence) consisting of an initial segregation analysis followed by a model-based genome-wide linkage analysis. Overall HHV-8 seroprevalence was 60%, increasing with age. Segregation analysis provided strong evidence for a recessive major gene conferring predisposition to HHV-8 infection. This gene is predicted to have a major effect during childhood, with almost all homozygous predisposed subjects (∼7% of the population) becoming infected by the age of 10. Linkage analysis was carried out on the 15 most informative families, corresponding to 205 genotyped subjects. A single region on chromosome 3p22 was significantly linked to HHV-8 infection (LOD score3.83, P2.0 × 105). This study provides the first evidence that HHV-8 infection in children in endemic areas has a strong genetic basis involving at least one recessive major locus on chromosome 3p22.

Original languageEnglish
Pages (from-to)690-695
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number6
StatePublished - Jun 2012
Externally publishedYes


  • Kaposi's sarcoma-associated herpes virus
  • endemic population
  • infection
  • linkage analysis
  • segregation analysis


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