{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hung AM"],"funding":["NCATS NIH HHS","NIDDK NIH HHS","CSRD VA"],"pagination":["1889-1899"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10631602"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["34(11)"],"pubmed_abstract":["<h4>Significance statement</h4>African Americans are at increased risk of CKD in part due to high-risk (HR) variants in the apolipoprotein L1 ( APOL1 ) gene, termed G1/G2. A different APOL1 variant, p.N264K , reduced the risk of CKD and ESKD among carriers of APOL1 HR variants to levels comparable with individuals with APOL1 low-risk variants in an analysis of 121,492 participants of African ancestry from the Million Veteran Program (MVP). Functional genetic studies in cell models showed that APOL1 p.N264K blocked APOL1 pore-forming function and ion channel conduction and reduced toxicity of APOL1 HR mutations. Pharmacologic inhibitors that mimic this mutation blocking APOL1 -mediated pore formation may be able to prevent and/or treat APOL1 -associated kidney disease.<h4>Background</h4>Afr"],"journal":["Journal of the American Society of Nephrology : JASN"],"pubmed_title":["Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease."],"pmcid":["PMC10631602"],"funding_grant_id":["UL1 TR002243","IK2 CX002452","T32 DK007569","R01 DK122075","I01 CX001897","IK2 CX002027"],"pubmed_authors":["Wilson P","Iruvanti P","Triozzi JL","Estrada K","Whitbourne SB","Gappy S","Wilson O","Green EM","Jhala D","Gress TW","Chen HC","Robinson-Cohen C","Argyres DP","Connor T","Gutierrez S","Kinlay S","Liang P","Aguayo S","Assimon VA","Chan H","Norton J","Poon S","Godschalk M","Tsao P","Palacio A","Moser J","DuVall SL","Dellitalia L","Brewer JV","Okusaga O","Xu J","Hauser E","Kranzler H","Shah SC","Churby L","Ahuja S","Shayan SA","Ballas Z","Moorman J","Hung AM","Potter E","Whooley M","Harley J","Liangpunsakul S","Lichy J","Williams AE","Luoh SW","Androulakis XM","Hammer K","Deen JE","Kilbourne A","Tandon N","Yu Z","Servatius R","Gupta S","Faulk LC","Balasubramanian P","Klein J","Sriram P","Greco J","Murdoch M","Assimes T","Mahan CS","Cohen D","Siew ED","Matheny M","Stephens B","Beckham J","Wells J","Million Veteran Program","Boyko E","Oslin D","Villareal G","Mozaffari SV","Tsao PS","Sharma S","Mastorides S","Brophy MT","Wallbom A","Meyer P","Gesek F","Wheless L","Jacono F","Mack T","Hurley R","Fujii D","Landry M","Matheny ME","Susztak K","Hung A","Whittle J","Mates E","Muralidhar S","Alexander K","Pyarajan S","Chandrasekar S","Hoek M","Cho K","Vlasschaert C","Selva LE","Yeh SS","Fayad J","Hamner M","Walsh J","Strollo P","Rauchman M","Mattocks K","Oursler KA","Smith R","Morgan T","Bhushan S","Tao R","Gaziano JM","Bick AG","Graham RR","Marrache R","Thompson T","Chung CP"],"additional_accession":[]},"is_claimable":false,"name":"Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease.","description":"<h4>Significance statement</h4>African Americans are at increased risk of CKD in part due to high-risk (HR) variants in the apolipoprotein L1 ( APOL1 ) gene, termed G1/G2. A different APOL1 variant, p.N264K , reduced the risk of CKD and ESKD among carriers of APOL1 HR variants to levels comparable with individuals with APOL1 low-risk variants in an analysis of 121,492 participants of African ancestry from the Million Veteran Program (MVP). Functional genetic studies in cell models showed that APOL1 p.N264K blocked APOL1 pore-forming function and ion channel conduction and reduced toxicity of APOL1 HR mutations. Pharmacologic inhibitors that mimic this mutation blocking APOL1 -mediated pore formation may be able to prevent and/or treat APOL1 -associated kidney disease.<h4>Background</h4>Afr","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Nov","modification":"2026-06-08T06:28:05.18Z","creation":"2026-06-08T03:14:24.558Z"},"accession":"S-EPMC10631602","cross_references":{"pubmed":["37798822"],"doi":["10.1681/ASN.0000000000000219"]}}