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Updated: May 10, 2026
09:07
Prediction and Validation of Gene Regulatory Elements Activated During Retinoic Acid Induced Embryonic Stem Cell Differentiation
Published on: June 21, 2016
RXRγ gene variants are associated with HIV lipodystrophy
Sudeep P Pushpakom1, Andrew Owen, David J Back
1NIHR Biomedical Research Centre, Royal Liverpool Hospital, Liverpool, UK. sudeepp@liv.ac.uk
Pharmacogenetics and Genomics
|June 14, 2013
Summary
Genetic variations in RXRγ may increase the risk of developing HIV lipodystrophy (HIVLD) in patients undergoing combination antiretroviral therapy (cART). This finding highlights potential genetic predispositions to therapy-related metabolic complications.
Area of Science:
- Genetics
- Pharmacogenomics
- Metabolic Diseases
Background:
- HIV lipodystrophy (HIVLD) is a metabolic complication linked to combination antiretroviral therapy (cART).
- Nuclear receptors are crucial for lipid metabolism and drug processing, and their genetic variations may influence HIVLD development.
Purpose of the Study:
- To investigate the association between genetic variations in nuclear receptor genes and the incidence of HIV lipodystrophy (HIVLD) in HIV-positive patients receiving cART.
Main Methods:
- Genotyping of 77 single nucleotide polymorphisms (SNPs) across nine nuclear receptor genes in HIV-positive patients with and without HIVLD.
- Statistical analysis using Haploview and logistic regression to identify significant genetic associations.
Main Results:
- Three SNPs in the RXRγ gene (rs2134095, rs113471, rs2194899) and its haplotypes were significantly associated with HIVLD (P=0.02).
- Multivariate analysis confirmed that time since diagnosis and carriage of the RXRγ haplotype were independent predictors of HIVLD.
Conclusions:
- Genetic variation in RXRγ may contribute to the pathogenesis of HIV lipodystrophy in patients treated with cART.
- These findings suggest a potential role for RXRγ in modulating lipid homeostasis and drug disposition, influencing HIVLD risk.
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