Original Investigation

Human Genetics

, Volume 125, Issue 3, pp 281-294

First online:

Association of Y chromosome haplogroup I with HIV progression, and HAART outcome

  • Efe SezginAffiliated withLaboratory of Genomic Diversity
  • , Joanne M. LindAffiliated withLaboratory of Genomic DiversitySchool of Medicine, University of Western Sydney
  • , Sadeep ShresthaAffiliated withLaboratory of Genomic DiversityBasic Research Program, SAIC-Frederick, Inc.Department of Epidemiology and International Health, School of Public Health, University of Alabama
  • , Sher HendricksonAffiliated withLaboratory of Genomic Diversity
  • , James J. GoedertAffiliated withViral Epidemiology Branch, National Cancer Institute
  • , Sharyne DonfieldAffiliated withRho, Incorporated
  • , Gregory D. KirkAffiliated withDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health
  • , John P. PhairAffiliated withNorthwestern University Medical School, Comprehensive AIDS Center
  • , Jennifer L. TroyerAffiliated withLaboratory of Genomic DiversityBasic Research Program, SAIC-Frederick, Inc.
    • , Stephen J. O’BrienAffiliated withLaboratory of Genomic Diversity
    • , Michael W. SmithAffiliated withLaboratory of Genomic DiversityBasic Research Program, SAIC-Frederick, Inc.Genetics and Genomics, Advanced Technology Program, SAIC-Frederick, Inc., National Cancer Institute Email author 

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The host genetic basis of differential outcomes in HIV infection, progression, viral load set point and highly active retroviral therapy (HAART) responses was examined for the common Y haplogroups in European Americans and African Americans. Accelerated progression to acquired immune deficiency syndrome (AIDS) and related death in European Americans among Y chromosome haplogroup I (Y-I) subjects was discovered. Additionally, Y-I haplogroup subjects on HAART took a longer time to HIV-1 viral suppression and were more likely to fail HAART. Both the accelerated progression and longer time to viral suppression results observed in haplogroup Y-I were significant after false-discovery-rate corrections. A higher frequency of AIDS-defining illnesses was also observed in haplogroup Y-I. These effects were independent of the previously identified autosomal AIDS restriction genes. When the Y-I haplogroup subjects were further subdivided into six I subhaplogroups, no one subhaplogroup accounted for the effects on HIV progression, viral load or HAART response. Adjustment of the analyses for population stratification found significant and concordant haplogroup Y-I results. The Y chromosome haplogroup analyses of HIV infection and progression in African Americans were not significant. Our results suggest that one or more loci on the Y chromosome found on haplogroup Y-I have an effect on AIDS progression and treatment responses in European Americans.