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Updated: Jan 16, 2026
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High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes
Published on: March 24, 2015
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Functional Role of Single-Nucleotide Polymorphisms on IFNG and IFNGR1 in Humans with Cardiovascular Disease
Megh Mehta1,2, Yang Li3,4, Smriti Parashar1,2
1Immunology Center of Georgia, Augusta University, Augusta, GA 30912, USA.
International Journal of Molecular Sciences
|September 27, 2025
Summary
Genetic variants influence gene expression in immune cells, potentially increasing cardiovascular disease risk in people with HIV. This study identified specific genetic factors linked to T-helper cell responses and atherosclerosis predisposition.
Area of Science:
- Immunology
- Genetics
- Cardiovascular Disease Research
Background:
- HIV infection elevates cardiovascular disease (CVD) risk.
- Numerous single-nucleotide polymorphisms (SNPs) are linked to coronary artery disease (CAD), but their functional roles are largely unknown.
Purpose of the Study:
- To investigate how genetic variants (SNPs) affect the expression of nearby genes, termed cis expression quantitative trait loci (cis-eQTLs).
- To identify specific cis-eQTLs in immune cells relevant to HIV and CVD.
Main Methods:
- Analysis of peripheral blood mononuclear cells (PBMCs) from 31 participants in the Women's Interagency HIV Study (WIHS).
- Utilized genotyping, single-cell RNA sequencing (scRNA-seq), and CITE-seq.
- Flow cytometry was used to validate protein level changes.
Main Results:
- Identified 187 statistically significant single-cell eQTLs (sc-eQTLs), with 160 being cell-type specific.
- Discovered 3 sc-eQTLs affecting IFNGR1 expression in CD4+ T cells at mRNA and protein levels.
- Found sc-eQTLs impacting IFNG expression in CD8+ T cells, associated with Th1 gene expression patterns in CD4+ T cells.
Conclusions:
- Genetic predisposition influences Th1 polarization levels, a factor linked to atherosclerosis.
- These findings provide insights into the genetic underpinnings of CVD risk in individuals with HIV.
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