Human Genetics

, 125:281

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


  • Efe Sezgin
    • Laboratory of Genomic Diversity
  • Joanne M. Lind
    • Laboratory of Genomic Diversity
    • School of MedicineUniversity of Western Sydney
  • Sadeep Shrestha
    • Laboratory of Genomic Diversity
    • Basic Research Program, SAIC-Frederick, Inc.
    • Department of Epidemiology and International Health, School of Public HealthUniversity of Alabama
  • Sher Hendrickson
    • Laboratory of Genomic Diversity
  • James J. Goedert
    • Viral Epidemiology BranchNational Cancer Institute
  • Sharyne Donfield
    • Rho, Incorporated
  • Gregory D. Kirk
    • Department of EpidemiologyJohns Hopkins Bloomberg School of Public Health
  • John P. Phair
    • Northwestern University Medical School, Comprehensive AIDS Center
  • Jennifer L. Troyer
    • Laboratory of Genomic Diversity
    • Basic Research Program, SAIC-Frederick, Inc.
  • Stephen J. O’Brien
    • Laboratory of Genomic Diversity
    • Laboratory of Genomic Diversity
    • Basic Research Program, SAIC-Frederick, Inc.
    • Genetics and Genomics, Advanced Technology ProgramSAIC-Frederick, Inc., National Cancer Institute
Original Investigation

DOI: 10.1007/s00439-008-0620-7

Cite this article as:
Sezgin, E., Lind, J.M., Shrestha, S. et al. Hum Genet (2009) 125: 281. doi:10.1007/s00439-008-0620-7


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.

Supplementary material

439_2008_620_MOESM1_ESM.tif (379 kb)
Supplementary figures (TIFF 379 kb)
439_2008_620_MOESM2_ESM.doc (475 kb)
Supplementary tables (DOC 475 kb)

Copyright information

© US Government 2009