{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zee J"],"funding":["NIDDK NIH HHS"],"pagination":["2747-2757"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8524347"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["36(9)"],"pubmed_abstract":["<h4>Background</h4>The G1 and G2 alleles of apolipoprotein L1 (APOL1) are common in the Black population and associated with increased risk of focal segmental glomerulosclerosis (FSGS). The molecular mechanisms linking APOL1 risk variants with FSGS are not clearly understood, and APOL1's natural absence in laboratory animals makes studying its pathobiology challenging.<h4>Methods</h4>In a cohort of 90 Black patients with either FSGS or minimal change disease (MCD) enrolled in the Nephrotic Syndrome Study Network (58% pediatric onset), we used kidney biopsy traits as an intermediate outcome to help illuminate tissue-based consequences of APOL1 risk variants and expression. We tested associations between APOL1 risk alleles or glomerular APOL1 mRNA expression and 83 light- or electron-microsc"],"journal":["Pediatric nephrology (Berlin, Germany)"],"pubmed_title":["APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis."],"pmcid":["PMC8524347"],"funding_grant_id":["U54 DK083912","R01 DK108805"],"pubmed_authors":["Sambandam KK","Lieske JC","Zee J","Meyers KE","Hogan JJ","Barisoni L","Jefferson JA","Hladunewich MA","Sethna CB","Gibson KL","Matar RB","Brown E","Wang CS","Adler SG","Gipson DS","Vento S","Sampson MG","McNulty MT","Patel J","Lemley KV","Trachtman H","Athavale AM","Fornoni A","Appel G","Dell KM","Lin JJ","Holzman LB","Hodgin JB","Hingorani S","Kaskel FJ","Reich HN","Tuttle KR","Gadegbeku CA","Kopp JB","Chen D","O'Toole J","Srivastava T","Singer P","Derebail VK","Kretzler M","Atkinson MA","Greenbaum LA","Nast CC","Bagnasco S","Lafayette RA","Hogan MC","Fervenza FC","Zhdanova O"],"additional_accession":[]},"is_claimable":false,"name":"APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis.","description":"<h4>Background</h4>The G1 and G2 alleles of apolipoprotein L1 (APOL1) are common in the Black population and associated with increased risk of focal segmental glomerulosclerosis (FSGS). The molecular mechanisms linking APOL1 risk variants with FSGS are not clearly understood, and APOL1's natural absence in laboratory animals makes studying its pathobiology challenging.<h4>Methods</h4>In a cohort of 90 Black patients with either FSGS or minimal change disease (MCD) enrolled in the Nephrotic Syndrome Study Network (58% pediatric onset), we used kidney biopsy traits as an intermediate outcome to help illuminate tissue-based consequences of APOL1 risk variants and expression. We tested associations between APOL1 risk alleles or glomerular APOL1 mRNA expression and 83 light- or electron-microsc","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Sep","modification":"2025-04-07T00:11:33.093Z","creation":"2025-04-04T19:45:02.839Z"},"accession":"S-EPMC8524347","cross_references":{"pubmed":["33646395"],"doi":["10.1007/s00467-021-04990-4"]}}