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ACSM4 polymorphisms are associated with rapid AIDS progression in HIV-infected patients

María Guzmán-Fulgencio1, José L Jiménez, María A Jiménez-Sousa

  • 1*Unidad de Coinfección HIV/Hepatitis, Centro Nacional de Microbiología, Hospital Carlos III, Madrid, Spain; †Plataforma de Laboratorio, Hospital General Universitario "Gregorio Marañón," Madrid, Spain; ‡Fundación para la Investigación Biomédica, Hospital General Universitario "Gregorio Marañón," Madrid, Spain; §Servicio de Enfermedades Infecciosas, Hospital Carlos III, Madrid, Spain; ‖Servicio Microbiología, Hospital General Universitario Gregorio Marañon, Madrid, Spain; ¶Servicio de Enfermedades Infecciosas, Hospital General Universitario Reina Sofia, Madrid, Spain; #Servicio de Enfermedades Infecciosas, Hospital Virgen del Rocío, Seville, Spain; **Laboratorio InmunoBiología Molecular, Hospital General Universitario Gregorio Marañón, Madrid, Spain; ††Instituto de Investigación Sanitaria del Gregorio Marañón, Madrid, Spain; and ‡‡Networking Research Center on Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain.

Journal of Acquired Immune Deficiency Syndromes (1999)
|August 29, 2013
PubMed

Insights

Genetic variations in ACSM4 are linked to faster AIDS progression in untreated HIV patients. Specific ACSM4 genotypes and haplotypes increased the odds of rapid disease advancement, suggesting a role in HIV-1 pathogenesis.

Area of Science:

  • Genetics
  • Immunology
  • Virology

Background:

  • Human Immunodeficiency Virus (HIV) infection leads to Acquired Immunodeficiency Syndrome (AIDS).
  • Genetic factors may influence the rate of disease progression in untreated individuals.
  • ACSM4 and PECI gene polymorphisms are investigated for their potential role in AIDS progression.

Purpose of the Study:

  • To investigate the association between ACSM4 and PECI gene polymorphisms and the rate of AIDS progression.
  • To identify genetic markers that predict rapid disease progression in treatment-naive HIV-infected patients.

Main Methods:

  • A cohort of 454 HIV-infected patients with no prior antiretroviral therapy was studied.
  • Patients were categorized into long-term nonprogressors, moderate progressors, and rapid progressors.
  • Genotyping for specific ACSM4 (rs7137120, rs7961991) and PECI polymorphisms was performed.

Main Results:

  • Specific genotypes of ACSM4 (rs7137120 AA/AG and rs7961991 CC/CT) were associated with a significantly higher odds of rapid AIDS progression.
  • An ACSM4 haplotype (rs7961991 A and rs7137120 C alleles) also showed increased odds of rapid progression.
  • No significant associations were found for PECI polymorphisms with AIDS progression.

Conclusions:

  • ACSM4 polymorphisms appear to play a significant role in modulating the rate of AIDS progression in untreated HIV-infected individuals.
  • These findings may contribute to understanding the genetic determinants of HIV disease course.
  • Further research is warranted to elucidate the functional mechanisms of ACSM4 in HIV pathogenesis.

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