{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T20:14:50Z","timestamp":1793736890703,"version":"4.6.1"},"reference-count":48,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T00:00:00Z","timestamp":1684800000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000191","name":"Kidney Foundation of Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000191","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000388","name":"Saint Peter&apos;s Trust for Kidney Bladder and Prostate Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000388","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["kireports.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International Reports"],"published-print":{"date-parts":[[2023,8]]},"DOI":"10.1016\/j.ekir.2023.05.018","type":"journal-article","created":{"date-parts":[[2023,5,26]],"date-time":"2023-05-26T21:27:12Z","timestamp":1685136432000},"page":"1562-1574","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome"],"prefix":"10.1016","volume":"8","author":[{"given":"Mallory L.","family":"Downie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjana","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catalin","family":"Voinescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam P.","family":"Levine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omid","family":"Sadeghi-Alavijeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Dufek-Kamperis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Christian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jameela A.","family":"Kari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenal","family":"Thalgahagoda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randula","family":"Ranawaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asiri","family":"Abeyagunawardena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasheed","family":"Gbadegesin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rulan","family":"Parekh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kleta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlef","family":"Bockenhauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Horia C.","family":"Stanescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel P.","family":"Gale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ekir.2023.05.018_bib1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0140-6736(18)30536-1","article-title":"Idiopathic nephrotic syndrome in children [published correction appears in Lancet. 2018;392:282]","volume":"392","author":"Noone","year":"2018","journal-title":"Lancet"},{"key":"10.1016\/j.ekir.2023.05.018_bib2","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.2215\/CJN.00380116","article-title":"Ethnic differences in incidence and outcomes of childhood nephrotic syndrome","volume":"11","author":"Banh","year":"2016","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib3","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1681\/ASN.2018101054","article-title":"Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome","volume":"30","author":"Dufek","year":"2019","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib4","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1681\/ASN.2017080859","article-title":"Strong association of the HLA-DR\/DQ locus with childhood steroid-sensitive nephrotic syndrome in the Japanese population","volume":"29","author":"Jia","year":"2018","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib5","doi-asserted-by":"crossref","first-page":"2000","DOI":"10.1681\/ASN.2017111185","article-title":"Transethnic, genome-wide analysis reveals immune-related risk alleles and phenotypic correlates in pediatric steroid-sensitive nephrotic syndrome","volume":"29","author":"Debiec","year":"2018","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib6","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/j.kint.2020.05.029","article-title":"Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome","volume":"98","author":"Jia","year":"2020","journal-title":"Kidney Int"},{"key":"10.1016\/j.ekir.2023.05.018_bib7","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1007\/s00467-020-04780-4","article-title":"Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood","volume":"36","author":"Dufek-Kamperis","year":"2021","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib8","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1080\/20469047.2017.1374003","article-title":"Nephrotic syndrome in infants and children: pathophysiology and management","volume":"37","author":"Downie","year":"2017","journal-title":"Paediatr Int Child Health"},{"key":"10.1016\/j.ekir.2023.05.018_bib9","doi-asserted-by":"crossref","first-page":"332","DOI":"10.2215\/CJN.05000516","article-title":"Minimal change disease","volume":"12","author":"Vivarelli","year":"2017","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib10","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1681\/ASN.2021060794","article-title":"Discovery of autoantibodies targeting nephrin in minimal change disease supports a novel autoimmune etiology","volume":"33","author":"Watts","year":"2022","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib11","doi-asserted-by":"crossref","first-page":"1701","DOI":"10.1681\/ASN.2014030247","article-title":"HLA-DQA1 and PLCG2 are candidate risk loci for childhood-onset steroid-sensitive nephrotic syndrome","volume":"26","author":"Gbadegesin","year":"2015","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib12","first-page":"139","article-title":"Kidney disease: improving global outcomes (KDIGO) glomerulonephritis work group. KDIGO clinical practice guideline for glomerulonephritis","volume":"2","author":"Cattran","year":"2012","journal-title":"Kidney Int Suppl"},{"key":"10.1016\/j.ekir.2023.05.018_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3310\/hta23260","article-title":"Sixteen-week versus standard eight-week prednisolone therapy for childhood nephrotic syndrome: the PREDNOS RCT","volume":"23","author":"Webb","year":"2019","journal-title":"Health Technol Assess"},{"key":"10.1016\/j.ekir.2023.05.018_bib14","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1001\/jamapediatrics.2021.5189","article-title":"Evaluation of daily low-dose prednisolone during upper respiratory tract infection to prevent relapse in children with relapsing steroid-sensitive nephrotic syndrome: the PREDNOS 2 randomized clinical trial","volume":"176","author":"Christian","year":"2022","journal-title":"JAMA Pediatr"},{"key":"10.1016\/j.ekir.2023.05.018_bib15","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/s41586-018-0579-z","article-title":"The UK biobank resource with deep phenotyping and genomic data","volume":"562","author":"Bycroft","year":"2018","journal-title":"Nature"},{"key":"10.1016\/j.ekir.2023.05.018_bib16","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1093\/bioinformatics\/btu704","article-title":"minimac2: faster genotype imputation","volume":"31","author":"Fuchsberger","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ekir.2023.05.018_bib17","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1038\/ng.3656","article-title":"Next-generation genotype imputation service and methods","volume":"48","author":"Das","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib18","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A\u00a0global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ekir.2023.05.018_bib19","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"Gigascience"},{"key":"10.1016\/j.ekir.2023.05.018_bib20","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1038\/s41588-018-0184-y","article-title":"Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies","volume":"50","author":"Zhou","year":"2018","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib21","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1093\/bioinformatics\/btq419","article-title":"LocusZoom: regional visualization of genome-wide association scan results","volume":"26","author":"Pruim","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ekir.2023.05.018_bib22","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1038\/s41588-021-00935-7","article-title":"A\u00a0high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response","volume":"53","author":"Luo","year":"2021","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib23","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/1471-2369-14-25","article-title":"The rationale and design of insight into nephrotic syndrome: investigating Genes, Health and Therapeutics (INSIGHT): a prospective cohort study of childhood nephrotic syndrome","volume":"14","author":"Hussain","year":"2013","journal-title":"BMC Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib24","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3389\/fgene.2014.00047","article-title":"Spit for Science: launching a longitudinal study of genetic and environmental influences on substance use and emotional health at a large US university","volume":"5","author":"Dick","year":"2014","journal-title":"Front Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib25","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/ng1706","article-title":"Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies [published correction appears in Nat Genet. 2006;38:390","volume":"38","author":"Skol","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib26","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/tan.14291","article-title":"HLA-DPB1 allele frequencies in the West Midlands region of the United Kingdom: A critical evaluation against the common, intermediate and well-documented allele catalogues CWD 2.0.0, EFI CWD and CIWD 3.0.0","volume":"98","author":"Lemin","year":"2021","journal-title":"HLA"},{"key":"10.1016\/j.ekir.2023.05.018_bib27","doi-asserted-by":"crossref","first-page":"5513","DOI":"10.1038\/s41598-020-62175-9","article-title":"HLA-A, -B, -C, -DRB1, -DQA1, and -DQB1 allele and haplotype frequencies defined by next generation sequencing in a population of East Croatia blood donors","volume":"10","author":"Toki\u0107","year":"2020","journal-title":"Sci Rep"},{"key":"10.1016\/j.ekir.2023.05.018_bib28","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1126\/science.aaz1776","article-title":"The GTEx Consortium atlas of genetic regulatory effects across human tissues","volume":"369","year":"2020","journal-title":"Science"},{"issue":"D1","key":"10.1016\/j.ekir.2023.05.018_bib29","first-page":"D756","article-title":"UCSC Genome Browser enters 20th year","volume":"48","author":"Lee","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.ekir.2023.05.018_bib30","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1038\/s41597-019-0351-8","article-title":"Single-cell RNA sequencing of human kidney","volume":"7","author":"Liao","year":"2020","journal-title":"Sci Data"},{"key":"10.1016\/j.ekir.2023.05.018_bib31","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1038\/s41588-022-01097-w","article-title":"Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease","volume":"54","author":"Liu","year":"2022","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib32","doi-asserted-by":"crossref","first-page":"e414","DOI":"10.1212\/NXI.0000000000000414","article-title":"MS AHI1 genetic risk promotes IFN\u03b3+ CD4+ T cells","volume":"5","author":"Kaskow","year":"2017","journal-title":"Neurol Neuroimmunol Neuroinflamm"},{"key":"10.1016\/j.ekir.2023.05.018_bib33","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1038\/ng.2770","article-title":"Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis","volume":"45","author":"Beecham","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib34","doi-asserted-by":"crossref","first-page":"9046","DOI":"10.1128\/JVI.76.18.9046-9059.2002","article-title":"Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations","volume":"76","author":"Jiang","year":"2002","journal-title":"J\u00a0Virol"},{"key":"10.1016\/j.ekir.2023.05.018_bib35","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1038\/ncb2410","article-title":"A\u00a0ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain","volume":"14","author":"Chih","year":"2011","journal-title":"Nat Cell Biol"},{"key":"10.1016\/j.ekir.2023.05.018_bib36","doi-asserted-by":"crossref","first-page":"13676","DOI":"10.1074\/jbc.M112.420786","article-title":"The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions","volume":"288","author":"Tuz","year":"2013","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.ekir.2023.05.018_bib37","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1681\/ASN.2008050456","article-title":"Nephronophthisis: disease mechanisms of a ciliopathy","volume":"20","author":"Hildebrandt","year":"2009","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.ekir.2023.05.018_bib38","doi-asserted-by":"crossref","first-page":"3897","DOI":"10.1182\/blood-2003-11-4026","article-title":"Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia","volume":"103","author":"Jiang","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.ekir.2023.05.018_bib39","doi-asserted-by":"crossref","first-page":"3926","DOI":"10.1093\/hmg\/ddp335","article-title":"Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking","volume":"18","author":"Hsiao","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib40","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1053\/j.ajkd.2017.10.013","article-title":"HLA-DQA1 and APOL1 as risk loci for childhood-onset steroid-sensitive and steroid-resistant nephrotic syndrome","volume":"71","author":"Adeyemo","year":"2018","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.ekir.2023.05.018_bib41","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/0198-8859(93)90113-F","article-title":"Analysis of genes within the HLA region affecting susceptibility to ulcerative colitis","volume":"36","author":"Sugimura","year":"1993","journal-title":"Hum Immunol"},{"issue":"suppl","key":"10.1016\/j.ekir.2023.05.018_bib42","doi-asserted-by":"crossref","first-page":"S61","DOI":"10.1016\/S0167-5273(96)88774-2","article-title":"Comprehensive analysis of HLA genes in Takayasu arteritis in Japan","volume":"54","author":"Kimura","year":"1996","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.ekir.2023.05.018_bib43","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0193684","article-title":"Combined effect of glutamine at position 70 of HLA-DRB1 and alanine at position 57 of HLA-DQB1 in type 1 diabetes: an epitope analysis","volume":"13","author":"Gerasimou","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.ekir.2023.05.018_bib44","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1084\/jem.183.3.1253","article-title":"HLA-DQB1 codon 57 is critical for peptide binding and recognition","volume":"183","author":"Kwok","year":"1996","journal-title":"J\u00a0Exp Med"},{"key":"10.1016\/j.ekir.2023.05.018_bib45","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.gene.2016.10.029","article-title":"Structural and functional annotation of human FAM26F: a multifaceted protein having a critical role in the immune system","volume":"597","author":"Malik","year":"2017","journal-title":"Gene"},{"key":"10.1016\/j.ekir.2023.05.018_bib46","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1111\/ahg.12251","article-title":"Transethnic differences in GWAS signals: a simulation study","volume":"82","author":"Zanetti","year":"2018","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib47","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1007\/s00439-011-1124-4","article-title":"Consistency of genome-wide associations across major ancestral groups","volume":"131","author":"Ntzani","year":"2012","journal-title":"Hum Genet"},{"key":"10.1016\/j.ekir.2023.05.018_bib48","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/nm.3933","article-title":"Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases","volume":"21","author":"Li","year":"2015","journal-title":"Nat Med"}],"container-title":["Kidney International Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S246802492301313X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S246802492301313X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T03:45:18Z","timestamp":1762832718000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S246802492301313X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8]]},"references-count":48,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["S246802492301313X"],"URL":"https:\/\/doi.org\/10.1016\/j.ekir.2023.05.018","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.10.05.510923","asserted-by":"object"}]},"ISSN":["2468-0249"],"issn-type":[{"value":"2468-0249","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome","name":"articletitle","label":"Article Title"},{"value":"Kidney International Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ekir.2023.05.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 International Society of Nephrology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}