{"doi":"10.3390/ijms26188806","title":"Functional Role of Single-Nucleotide Polymorphisms on IFNG and IFNGR1 in Humans with Cardiovascular Disease","abstract":"HIV infection is known to increase the risk for cardiovascular disease (CVD). Although almost 400 single-nucleotide polymorphisms (SNPs) are significantly associated with CAD alone, a subtype of CVD, the functions of most of these risk loci are unclear. Here, we investigated the impact of genetic variants/SNPs on the expression of nearby genes as potential cis expression quantitative trait loci (cis-eQTLs). We investigated peripheral blood mononuclear cells (PBMCs) from 31 participants in the Women's Interagency HIV Study (WIHS) using genotyping, single-cell (sc)RNA-seq, and CITE-seq. We found 187 statistically significant sc-eQTLs (single-cell eQTLs). In total, 160 were specific for just one immune cell type. We found a set of 3 sc-eQTLs impacting expression of IFNGR1 in CD4+ T cells at the mRNA and protein level as detected by flow cytometry. Two other sc-eQTLs representing one locus impact IFNG expression in CD8+ T cells, one of the primary sources of this cytokine. The sc-eQTLs impacting IFNG were associated with Th1 (T-helper1) gene expression patterns in CD4+ T cells in this cohort. These data suggest that some individuals are genetically predisposed to greater levels of Th1 polarization, which is known to be associated with atherosclerosis.","journal":"International Journal of Molecular Sciences","year":2025,"id":574522,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9555,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":929670,"name":"Yang Li","orcid":"0000-0002-6042-1259","position":1,"is_corresponding":false},{"id":121768,"name":"Smriti Parashar","orcid":"0000-0002-6348-2612","position":2,"is_corresponding":false},{"id":334762,"name":"Catalina Ramirez","orcid":"0000-0002-0872-0307","position":3,"is_corresponding":false},{"id":645030,"name":"Heather McKay","orcid":"0000-0003-2776-7220","position":4,"is_corresponding":false},{"id":328573,"name":"Alan Landay","orcid":"0000-0001-9645-1356","position":5,"is_corresponding":false},{"id":236713,"name":"Rédouane Aherrahrou","orcid":"0000-0001-8148-9554","position":6,"is_corresponding":false},{"id":1482255,"name":"Aarushi Advani","orcid":null,"position":7,"is_corresponding":false},{"id":1481848,"name":"Raag Patel","orcid":"0009-0005-5984-1693","position":8,"is_corresponding":false},{"id":21964,"name":"Robert C. Kaplan","orcid":"0000-0003-1571-4615","position":9,"is_corresponding":false},{"id":368852,"name":"Jason Lazar","orcid":"0000-0002-8548-7932","position":10,"is_corresponding":false},{"id":211067,"name":"Kathryn Anastos","orcid":"0000-0002-0769-6405","position":11,"is_corresponding":false},{"id":368853,"name":"David B. Hanna","orcid":"0000-0002-1985-9865","position":12,"is_corresponding":false},{"id":90132,"name":"Qibin Qi","orcid":"0000-0002-2687-1758","position":13,"is_corresponding":false},{"id":324398,"name":"Klaus Ley","orcid":"0000-0001-9339-3672","position":14,"is_corresponding":false},{"id":1302900,"name":"Megh Mehta","orcid":null,"position":0,"is_corresponding":true}],"reference_count":63,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T02:57:40.686992Z","pmid":"41009374","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}