{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Breeze CE"],"funding":["NIDDK NIH HHS","NIMHD NIH HHS"],"pagination":["452"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11077761"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(1)"],"pubmed_abstract":["Apolipoprotein L1 (APOL1) coding variants, termed G1 and G2, are established genetic risk factors for a growing spectrum of diseases, including kidney disease, in individuals of African ancestry. Evidence suggests that the risk variants, which show a recessive mode of inheritance, lead to toxic gain-of-function changes of the APOL1 protein. Disease occurrence and presentation vary, likely due to modifiers or second hits. To understand the role of the epigenetic landscape in relation to APOL1 risk variants, we performed methylation quantitative trait locus (meQTL) analysis to identify differentially methylated CpGs influenced by APOL1 risk variants in 611 African American individuals. We identified five CpGs that were significantly associated with APOL1 risk alleles in discovery and replica"],"journal":["BMC genomics"],"pubmed_title":["African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations."],"pmcid":["PMC11077761"],"funding_grant_id":["R01 DK117445","R01 MD012765"],"pubmed_authors":["Lin BM","Winkler CA","Breeze CE","Franceschini N"],"additional_accession":[]},"is_claimable":false,"name":"African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations.","description":"Apolipoprotein L1 (APOL1) coding variants, termed G1 and G2, are established genetic risk factors for a growing spectrum of diseases, including kidney disease, in individuals of African ancestry. Evidence suggests that the risk variants, which show a recessive mode of inheritance, lead to toxic gain-of-function changes of the APOL1 protein. Disease occurrence and presentation vary, likely due to modifiers or second hits. To understand the role of the epigenetic landscape in relation to APOL1 risk variants, we performed methylation quantitative trait locus (meQTL) analysis to identify differentially methylated CpGs influenced by APOL1 risk variants in 611 African American individuals. We identified five CpGs that were significantly associated with APOL1 risk alleles in discovery and replica","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 May","modification":"2025-08-12T03:04:48.629Z","creation":"2025-08-12T03:04:48.629Z"},"accession":"S-EPMC11077761","cross_references":{"pubmed":["38714935"],"doi":["10.1186/s12864-024-10226-0"]}}