Related Experiment Video

Updated: Jan 16, 2026

High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes
10:00

High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes

Published on: March 24, 2015

13.8K

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
PubMed

Insights

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.

Keywords:
CVD (cardiovascular disease)IFNG (interferon-gamma)IFNGR1 (interferon-gamma receptor 1)PBMCs (peripheral blood mononuclear cells)SNPs (single-nucleotide polymorphisms)T cellssc-eQTL (single-cell expression quantitative trait locus)

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