{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Wang QS"],"funding":["Calico Life Sciences LLC","National Institute of Nursing Research","NIA NIH HHS","NINR NIH HHS","National Institute on Aging"],"pubmed_abstract":["Mutations in apolipoprotein L1 (APOL1) are strongly associated with protection against parasitic infections and increased risk of kidney disease in individuals of African ancestry. To better understand the mechanisms underlying APOL1-related pathologies, we examined genetic drivers of circulating APOL1 in individuals of African and European ancestry from four independent cohorts (UK Biobank, AASK, deCODE, and Health ABC) using three proteomic technologies (Olink, SomaLogic, and mass spectrometry). We found that disease-associated <i>APOL1</i> G1 and G2 variants are strong <i>cis</i>-pQTLs for plasma APOL1 measured by Olink and SomaLogic, but not mass spectrometry. Critically, the direction of variant effects differed between proteomic platforms, being positive with Olink and negative with "],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2025.01.30.635763"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11838367"],"repository":["biostudies-literature"],"pubmed_title":["Platform-dependent effects of genetic variants on plasma APOL1."],"pmcid":["PMC11838367"],"funding_grant_id":["R01 AG028050","N01-AG-6-2106","R01 NR012459","R01-AG028050","N01-AG-6-2101","R01-NR012459","N01-AG-6-2103"],"pubmed_authors":["Gaun A","Huang J","Chan L","Susztak K","Madhireddy D","Haste N","Olsson N","Baryshnikova A","Cardone KM","Kumar R","McAllister F","Baruch A","Melamud E","Wang QS","Ritchie M"],"additional_accession":[]},"is_claimable":false,"name":"Platform-dependent effects of genetic variants on plasma APOL1.","description":"Mutations in apolipoprotein L1 (APOL1) are strongly associated with protection against parasitic infections and increased risk of kidney disease in individuals of African ancestry. To better understand the mechanisms underlying APOL1-related pathologies, we examined genetic drivers of circulating APOL1 in individuals of African and European ancestry from four independent cohorts (UK Biobank, AASK, deCODE, and Health ABC) using three proteomic technologies (Olink, SomaLogic, and mass spectrometry). We found that disease-associated <i>APOL1</i> G1 and G2 variants are strong <i>cis</i>-pQTLs for plasma APOL1 measured by Olink and SomaLogic, but not mass spectrometry. Critically, the direction of variant effects differed between proteomic platforms, being positive with Olink and negative with ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2026-07-01T03:22:43.575Z","creation":"2026-07-01T03:12:15.236Z"},"accession":"S-EPMC11838367","cross_references":{"pubmed":["39975113"],"doi":["10.1101/2025.01.30.635763"]}}