Human Genetics

, 125:281

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

  • Efe Sezgin
  • Joanne M. Lind
  • Sadeep Shrestha
  • Sher Hendrickson
  • James J. Goedert
  • Sharyne Donfield
  • Gregory D. Kirk
  • John P. Phair
  • Jennifer L. Troyer
  • Stephen J. O’Brien
  • Michael W. Smith
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

Abstract

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

Authors and Affiliations

  • Efe Sezgin
    • 1
  • Joanne M. Lind
    • 1
    • 7
  • Sadeep Shrestha
    • 1
    • 2
    • 9
  • Sher Hendrickson
    • 1
  • James J. Goedert
    • 3
  • Sharyne Donfield
    • 4
  • Gregory D. Kirk
    • 5
  • John P. Phair
    • 6
  • Jennifer L. Troyer
    • 1
    • 2
  • Stephen J. O’Brien
    • 1
  • Michael W. Smith
    • 1
    • 2
    • 8
  1. 1.Laboratory of Genomic DiversityFrederickUSA
  2. 2.Basic Research Program, SAIC-Frederick, Inc.FrederickUSA
  3. 3.Viral Epidemiology BranchNational Cancer InstituteRockvilleUSA
  4. 4.Rho, IncorporatedChapel HillUSA
  5. 5.Department of EpidemiologyJohns Hopkins Bloomberg School of Public HealthBaltimoreUSA
  6. 6.Northwestern University Medical School, Comprehensive AIDS CenterChicagoUSA
  7. 7.School of MedicineUniversity of Western SydneySydneyAustralia
  8. 8.Genetics and Genomics, Advanced Technology ProgramSAIC-Frederick, Inc., National Cancer InstituteFrederickUSA
  9. 9.Department of Epidemiology and International Health, School of Public HealthUniversity of AlabamaBirminghamUSA