{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T22:15:02Z","timestamp":1792275302923,"version":"4.4.0"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T00:00:00Z","timestamp":1668038400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T00:00:00Z","timestamp":1668038400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Nephrol"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Idiop\nathic nephrotic syndrome (INS) is classified in children according to response to initial corticosteroid therapy into steroid-sensitive (SSNS) and steroid-resistant nephrotic syndrome (SRNS), and in adults according to histology into minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS). However, there is well-recognised phenotypic overlap between these entities. Genome-wide association studies (GWAS) have shown a strong association between SSNS and variation at HLA, suggesting an underlying immunological basis. We sought to determine whether a risk score generated from genetic variants associated with SSNS could be used to gain insight into the pathophysiology of INS presenting in other ways.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We developed an SSNS genetic risk score (SSNS-GRS) from the five variants independently associated with childhood SSNS in a previous European GWAS. We quantified SSNS-GRS in independent cohorts of European individuals with childhood SSNS, non-monogenic SRNS, MCD, and FSGS, and contrasted them with SSNS-GRS quantified in individuals with monogenic SRNS, membranous nephropathy (a different immune-mediated disease-causing nephrotic syndrome), and healthy controls.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The SSNS-GRS was significantly elevated in cohorts with SSNS, non-monogenic SRNS, MCD, and FSGS compared to healthy participants and those with membranous nephropathy. The SSNS-GRS in all cohorts with non-monogenic INS were also significantly elevated compared to those with monogenic SRNS.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The shared genetic risk factors among patients with different presentations of INS strongly suggests a shared autoimmune pathogenesis when monogenic causes are excluded. Use of the SSNS-GRS, in addition to testing for monogenic causes, may help to classify patients presenting with INS.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Graphical abstract<\/jats:title>\n                \n              <\/jats:sec>","DOI":"10.1007\/s00467-022-05789-7","type":"journal-article","created":{"date-parts":[[2022,11,10]],"date-time":"2022-11-10T21:14:28Z","timestamp":1668114868000},"page":"1793-1800","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Shared genetic risk across different presentations of gene test\u2013negative idiopathic nephrotic syndrome"],"prefix":"10.1007","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1814-4219","authenticated-orcid":false,"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":"Melanie M. Y.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omid","family":"Sadeghi-Alavijeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Cao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rulan S.","family":"Parekh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen Bugarin","family":"Diz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Bierzynska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam P.","family":"Levine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth J.","family":"Pepper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Horia","family":"Stanescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moin A.","family":"Saleem","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":"Ania B.","family":"Koziell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel P.","family":"Gale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,11,10]]},"reference":[{"key":"5789_CR1","doi-asserted-by":"publisher","unstructured":"Eddy AA, Symons JM (2003) Nephrotic syndrome in childhood. Lancet 362:629\u2013639. https:\/\/doi.org\/10.1016\/S0140-6736(03)14184-0","DOI":"10.1016\/S0140-6736(03)14184-0"},{"issue":"2","key":"5789_CR2","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1038\/kisup.2012.9","volume":"2","author":"DC Cattran","year":"2012","unstructured":"Cattran DC, Feehally J, Cook HT, Liu ZH, Fervenza FC, Mezzano SA, Floege J, Nachman PH, Gipson DS, Praga M, Glassock RJ, Radhakrishnan J, Hodson EM, Rovin BH, Jha V, Troyanov S, Li PKT, Wetzels JFM (2012) Kidney disease: improving global outcomes (KDIGO) glomerulonephritis work group. KDIGO clinical practice guideline for glomerulonephritis. Kidney Int Suppl 2(2):139\u2013274. https:\/\/doi.org\/10.1038\/kisup.2012.9","journal-title":"Kidney Int Suppl"},{"key":"5789_CR3","doi-asserted-by":"publisher","unstructured":"(1978) Nephrotic syndrome in children: prediction of histopathology from clinical and laboratory characteristics at time of diagnosis. A report of the International Study of Kidney Disease in Children. Kidney Int 13(2):159\u2013165. https:\/\/doi.org\/10.1038\/ki.1978.23","DOI":"10.1038\/ki.1978.23"},{"key":"5789_CR4","doi-asserted-by":"publisher","unstructured":"(1981) Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A report of the International Study of Kidney Disease in Children. Kidney Int 20(6):765\u2013771. https:\/\/doi.org\/10.1038\/ki.1981.209","DOI":"10.1038\/ki.1981.209"},{"key":"5789_CR5","doi-asserted-by":"publisher","first-page":"2398","DOI":"10.1056\/NEJMra1106556","volume":"365","author":"VD D\u2019Agati","year":"2011","unstructured":"D\u2019Agati VD, Kaskel FJ, Falk RJ (2011) Focal segmental glomerulosclerosis. N Engl J Med 365:2398\u20132411. https:\/\/doi.org\/10.1056\/NEJMra1106556","journal-title":"N Engl J Med"},{"issue":"6","key":"5789_CR6","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1681\/ASN.2014050489","volume":"26","author":"CE Sadowski","year":"2015","unstructured":"Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M et al (2015) A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. JASN 26(6):1279\u20131289. https:\/\/doi.org\/10.1681\/ASN.2014050489","journal-title":"JASN"},{"issue":"12","key":"5789_CR7","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1038\/nrneph.2016.147","volume":"12","author":"RJ Maas","year":"2016","unstructured":"Maas RJ, Deegens JK, Smeets B, Moeller MJ, Wetzels JF (2016) Minimal change disease and idiopathic FSGS: manifestations of the same disease. Nat Rev Nephrol 12(12):768\u2013776. https:\/\/doi.org\/10.1038\/nrneph.2016.147","journal-title":"Nat Rev Nephrol"},{"key":"5789_CR8","doi-asserted-by":"publisher","unstructured":"Dufek-Kamperis S, Kleta R, Bockenhauer D, Gale D, Downie ML (2020) Novel insights in the genetics of steroidsensitive nephrotic syndrome in childhood. Pediatr Nephrol. Published online October 21, 2020. https:\/\/doi.org\/10.1007\/s00467-020-04780-4","DOI":"10.1007\/s00467-020-04780-4"},{"issue":"12","key":"5789_CR9","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1016\/S2352-4642(18)30283-9","volume":"2","author":"K Tullus","year":"2018","unstructured":"Tullus K, Webb H, Bagga A (2018) Management of steroid-resistant nephrotic syndrome in children and adolescents. Lancet Child Adolesc Health 2(12):880\u2013890. https:\/\/doi.org\/10.1016\/S2352-4642(18)30283-9","journal-title":"Lancet Child Adolesc Health"},{"issue":"1","key":"5789_CR10","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1007\/s00467-018-4166-1","volume":"35","author":"K Kamei","year":"2020","unstructured":"Kamei K, Ishikura K, Sako M, Ito S, Nozu K, Iijima K (2020) Rituximab therapy for refractory steroid-resistant nephrotic syndrome in children. Pediatr Nephrol 35(1):17\u201324. https:\/\/doi.org\/10.1007\/s00467-018-4166-1","journal-title":"Pediatr Nephrol"},{"issue":"8","key":"5789_CR11","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1007\/s00467-020-04519-1","volume":"35","author":"A Trautmann","year":"2020","unstructured":"Trautmann A, Vivarelli M, Samuel S, Gipson D, Sinha A, Schaefer F, Hui NK, Boyer O, Saleem MA, Feltran L, M\u00fcller-Deile J, Becker JU, Cano F, Xu H, Lim YN, Smoyer W, Anochie I, Nakanishi K, Hodson E et al (2020) IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 35(8):1529\u20131561. https:\/\/doi.org\/10.1007\/s00467-020-04519-1","journal-title":"Pediatr Nephrol"},{"issue":"3","key":"5789_CR12","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1007\/s00467-017-3819-9","volume":"33","author":"G Dorval","year":"2018","unstructured":"Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, T\u00eate MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Desch\u00eanes G, Dolhem P et al (2018) Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome. Pediatr Nephrol 33(3):473\u2013483. https:\/\/doi.org\/10.1007\/s00467-017-3819-9","journal-title":"Pediatr Nephrol"},{"issue":"8","key":"5789_CR13","doi-asserted-by":"publisher","first-page":"1375","DOI":"10.1681\/ASN.2018101054","volume":"30","author":"S Dufek","year":"2019","unstructured":"Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel V, Hothi D, Waters A, Webb H, Tullus K, Jenkins L, Godinho L, Levtchenko E, Wetzels J, Knoers N et al (2019) Genetic identification of two novel loci associated with steroid-sensitive nephrotic syndrome. J Am Soc Nephrol 30(8):1375\u20131384. https:\/\/doi.org\/10.1681\/ASN.2018101054","journal-title":"J Am Soc Nephrol"},{"issue":"7","key":"5789_CR14","doi-asserted-by":"publisher","first-page":"2000","DOI":"10.1681\/ASN.2017111185","volume":"29","author":"H Debiec","year":"2018","unstructured":"Debiec H, Dossier C, Letouz\u00e9 E, Gillies CE, Vivarelli M, Putler RK, Ars E, Jacqz-Aigrain E, Elie V, Colucci M, Debette S, Amouyel P, Elalaoui SC, Sefiani A, Dubois V, Simon T, Kretzler M, Ballarin J, Emma F et al (2018) Transethnic, genome-wide analysis reveals immune-related risk alleles and phenotypic correlates in pediatric steroid-sensitive nephrotic syndrome. J Am Soc Nephrol 29(7):2000\u20132013. https:\/\/doi.org\/10.1681\/ASN.2017111185","journal-title":"J Am Soc Nephrol"},{"issue":"8","key":"5789_CR15","doi-asserted-by":"publisher","first-page":"2189","DOI":"10.1681\/ASN.2017080859","volume":"29","author":"X Jia","year":"2018","unstructured":"Jia X, Horinouchi T, Hitomi Y, Shono A, Khor SS, Omae Y, Kojima K, Kawai Y, Nagasaki M, Kaku Y, Okamoto T, Ohwada Y, Ohta K, Okuda Y, Fujimaru R, Hatae K, Kumagai N, Sawanobori E, Nakazato H et al (2018) Japan for the RC on G of CINS in. Strong Association of the HLA-DR\/DQ locus with childhood steroid-sensitive nephrotic syndrome in the Japanese population. JASN 29(8):2189\u20132199. https:\/\/doi.org\/10.1681\/ASN.2017080859","journal-title":"JASN"},{"issue":"5","key":"5789_CR16","doi-asserted-by":"publisher","first-page":"1308","DOI":"10.1016\/j.kint.2020.05.029","volume":"98","author":"X Jia","year":"2020","unstructured":"Jia X, Yamamura T, Gbadegesin R, MT MN, Song K, Nagano C, Hitomi Y, Lee D, Aiba Y, Khor SS, Ueno K, Kawai Y, Nagasaki M, Noiri E, Horinouchi T, Kaito H, Hamada R, Okamoto T, Kamei K et al (2020) Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney Int 98(5):1308\u20131322. https:\/\/doi.org\/10.1016\/j.kint.2020.05.029","journal-title":"Kidney Int"},{"issue":"7","key":"5789_CR17","doi-asserted-by":"publisher","first-page":"2094","DOI":"10.2337\/db15-1690","volume":"65","author":"KA Patel","year":"2016","unstructured":"Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT (2016) Type 1 diabetes genetic risk score: a novel tool to discriminate monogenic and type 1 diabetes. Diabetes 65(7):2094\u20132099. https:\/\/doi.org\/10.2337\/db15-1690","journal-title":"Diabetes"},{"issue":"9","key":"5789_CR18","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1038\/s41588-018-0183-z","volume":"50","author":"AV Khera","year":"2018","unstructured":"Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S (2018) Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet 50(9):1219\u20131224. https:\/\/doi.org\/10.1038\/s41588-018-0183-z","journal-title":"Nat Genet"},{"issue":"1","key":"5789_CR19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41398-019-0612-5","volume":"9","author":"KG Jonas","year":"2019","unstructured":"Jonas KG, Lencz T, Li K, Malhotra AK, Perlman G, Fochtmann LJ, Bromet EJ, Kotov R (2019) Schizophrenia polygenic risk score and 20-year course of illness in psychotic disorders. Transl Psychiatry 9(1):1\u20138. https:\/\/doi.org\/10.1038\/s41398-019-0612-5","journal-title":"Transl Psychiatry"},{"issue":"4","key":"5789_CR20","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1016\/j.kint.2016.10.013","volume":"91","author":"A Bierzynska","year":"2017","unstructured":"Bierzynska A, McCarthy HJ, Soderquest K, Sen ES, Colby E, Ding WY, Nabhan MM, Kerecuk L, Hegde S, Hughes D, Marks S, Feather S, Jones C, Webb NJA, Ognjanovic M, Christian M, Gilbert RD, Sinha MD, Lord GM et al (2017) Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney Int 91(4):937\u2013947. https:\/\/doi.org\/10.1016\/j.kint.2016.10.013","journal-title":"Kidney Int"},{"key":"5789_CR21","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1186\/1471-2369-14-25","volume":"14","author":"N Hussain","year":"2013","unstructured":"Hussain N, Zello JA, Vasilevska-Ristovska J, Banh TM, Patel VP, Patel P, Battiston CD, Hebert D, Licht CPB, Piscione TD, Parekh RS (2013) The rationale and design of Insight into Nephrotic Syndrome: Investigating Genes, Health and Therapeutics (INSIGHT): a prospective cohort study of childhood nephrotic syndrome. BMC Nephrol 14:25. https:\/\/doi.org\/10.1186\/1471-2369-14-25","journal-title":"BMC Nephrol"},{"key":"5789_CR22","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","volume":"590","author":"D Taliun","year":"2021","unstructured":"Taliun D, Harris DN, Kessler MD, Carlson J et al (2021) Sequencing of 53,831 diverse genomes from the NHLBI TOP Med Program. Nature 590:290\u2013299. https:\/\/doi.org\/10.1038\/s41586-021-03205-y","journal-title":"Nature"},{"issue":"10","key":"5789_CR23","doi-asserted-by":"publisher","first-page":"1791","DOI":"10.1681\/ASN.2010010076","volume":"21","author":"J Feehally","year":"2010","unstructured":"Feehally J, Farrall M, Boland A, Gale DP, Gut I, Heath S, Kumar A, Peden JF, Maxwell PH, Morris DL, Padmanabhan S, Vyse TJ, Zawadzka A, Rees AJ, Lathrop M, Ratcliffe PJ (2010) HLA has strongest association with IgA nephropathy in genome-wide analysis. J Am Soc Nephrol 21(10):1791\u20131797. https:\/\/doi.org\/10.1681\/ASN.2010010076","journal-title":"J Am Soc Nephrol"},{"issue":"7814","key":"5789_CR24","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1038\/s41586-020-2434-2","volume":"583","author":"E Turro","year":"2020","unstructured":"Turro E, Astle WJ, Megy K, Gr\u00e4f S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, SVV D, Aitman TJ, Bennett DL et al (2020) Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583(7814):96\u2013102. https:\/\/doi.org\/10.1038\/s41586-020-2434-2","journal-title":"Nature"},{"key":"5789_CR25","doi-asserted-by":"publisher","unstructured":"Levine AP, Chan MMY, Sadeghi-Alavijeh O, Wong EKS, Cook HT, Ashford S, Carss K, Christian MT, Hall M, Harris CL, McAlinden P, Marchbank KJ, Marks SD, Maxwell H, Megy K, Penkett CJ, Mozere M, Stirrups KE, Tuna S, Wessels J, Whitehorn D, Group MGRD, BioResource N, Johnson SA, Gale DP (2020) Large-scale whole-genome sequencing reveals the genetic architecture of primary membranoproliferative GN and C3 glomerulopathy. JASN 31(2):365\u2013373. https:\/\/doi.org\/10.1681\/ASN.2019040433","DOI":"10.1681\/ASN.2019040433"},{"key":"5789_CR26","doi-asserted-by":"publisher","unstructured":"Caulfield M, Davies J, Dennys M, Elbahy L, Fowler T, Hill S, Hubbard T, Jostins L, Maltby N, Mahon-Pearson J, McVean G, Nevin-Ridley K, Parker M, Parry V, Rendon A, Riley L, Turnbull C, Woods K (2017) The 100,000 genomes project protocol. Published online December 21, 2017. https:\/\/doi.org\/10.6084\/m9.figshare.4530893.v4","DOI":"10.6084\/m9.figshare.4530893.v4"},{"issue":"11","key":"5789_CR27","doi-asserted-by":"publisher","first-page":"1560","DOI":"10.1038\/s41588-019-0528-2","volume":"51","author":"AR Martin","year":"2019","unstructured":"Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E, Thomas E, Scott RH, Baple E, Tucci A, Brittain H, de Burca A, Iba\u00f1ez K, Kasperaviciute D, Smedley D et al (2019) PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet 51(11):1560\u20131565. https:\/\/doi.org\/10.1038\/s41588-019-0528-2","journal-title":"Nat Genet"},{"key":"5789_CR28","doi-asserted-by":"publisher","unstructured":"Xie J, Liu L, Mladkova N, Li Y, Ren H, Wang W, Cui Z, Lin L, Hu X, Yu X, Xu J, Liu G, Caliskan Y, Sidore C, Balderes O, Rosen RJ, Bodria M, Zanoni F, Zhang JY, Krithivasan P, Mehl K, Marasa M, Khan A, Ozay F, Canetta PA, Bomback AS, Appel GB, Sanna-Cherchi S, Sampson MG, Mariani LH, Perkowska-Ptasinska A, Durlik M, Mucha K, Moszczuk B, Foroncewicz B, P\u0105czek L, Habura I, Ars E, Ballarin J, Mani LY, Vogt B, Ozturk S, Yildiz A, Seyahi N, Arikan H, Koc M, Basturk T, Karahan G, Akgul SU, Sever MS, Zhang D, Santoro D, Bonomini M, Londrino F, Gesualdo L, Reiterova J, Tesar V, Izzi C, Savoldi S, Spotti D, Marcantoni C, Messa P, Galliani M, Roccatello D, Granata S, Zaza G, Lugani F, Ghiggeri G, Pisani I, Allegri L, Sprangers B, Park JH, Cho B, Kim YS, Kim DK, Suzuki H, Amoroso A, Cattran DC, Fervenza FC, Pani A, Hamilton P, Harris S, Gupta S, Cheshire C, Dufek S, Issler N, Pepper RJ, Connolly J, Powis S, Bockenhauer D, Stanescu HC, Ashman N, Loos RJF, Kenny EE, Wuttke M, Eckardt KU, K\u00f6ttgen A, Hofstra JM et al (2020) The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. Nat Commun 11(1):1\u201318. https:\/\/doi.org\/10.1038\/s41467-020-15383-w","DOI":"10.1038\/s41467-020-15383-w"},{"issue":"7571","key":"5789_CR29","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","volume":"526","author":"A Auton","year":"2015","unstructured":"Auton A, Abecasis GR, Altshuler DM, Durbin RM, Abecasis GR, Bentley DR, Chakravarti A, Clark AG, Donnelly P, Eichler EE, Flicek P, Gabriel SB, Gibbs RA, Green ED, Hurles ME, Knoppers BM, Korbel JO, Lander ES, Lee C et al (2015) A global reference for human genetic variation. Nature 526(7571):68\u201374. https:\/\/doi.org\/10.1038\/nature15393","journal-title":"Nature"},{"issue":"6175","key":"5789_CR30","doi-asserted-by":"publisher","first-page":"1246949","DOI":"10.1126\/science.1246949","volume":"343","author":"BP Fairfax","year":"2014","unstructured":"Fairfax BP, Humburg P, Makino S, Naranbhai V, Wong D, Lau E, Jostins L, Plant K, Andrews R, McGee C, Knight JC (2014) Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression. Science 343(6175):1246949. https:\/\/doi.org\/10.1126\/science.1246949","journal-title":"Science"},{"issue":"5","key":"5789_CR31","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1038\/ng.2205","volume":"44","author":"BP Fairfax","year":"2012","unstructured":"Fairfax BP, Makino S, Radhakrishnan J, Plant K, Leslie S, Dilthey A, Ellis P, Langford C, Vannberg FO, Knight JC (2012) Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles. Nat Genet 44(5):502\u2013510. https:\/\/doi.org\/10.1038\/ng.2205","journal-title":"Nat Genet"},{"key":"5789_CR32","unstructured":"Illumina, Inc (2010) Illumina genotyping control database purpose document. https:\/\/illumina.com\/documents\/icontroldb\/document_purpose.pdf. Accessed 30 October 2017"},{"issue":"7145","key":"5789_CR33","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1038\/nature05911","volume":"447","author":"PR Burton","year":"2007","unstructured":"Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Burton PR, Davison D, Donnelly P, Easton D, Evans D, Leung HT et al (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447(7145):661\u2013678. https:\/\/doi.org\/10.1038\/nature05911","journal-title":"Nature"},{"issue":"22","key":"5789_CR34","doi-asserted-by":"publisher","first-page":"2867","DOI":"10.1093\/bioinformatics\/btq559","volume":"26","author":"A Manichaikul","year":"2010","unstructured":"Manichaikul A, Mychaleckyj JC, Rich SS, Daly K, Sale M, Chen WM (2010) Robust relationship inference in genome-wide association studies. Bioinformatics 26(22):2867\u20132873. https:\/\/doi.org\/10.1093\/bioinformatics\/btq559","journal-title":"Bioinformatics"},{"issue":"10","key":"5789_CR35","doi-asserted-by":"publisher","first-page":"1643","DOI":"10.1016\/j.ekir.2020.07.012","volume":"5","author":"K Sukcharoen","year":"2020","unstructured":"Sukcharoen K, Sharp SA, Thomas NJ, Kimmitt RA, Harrison J, Bingham C, Mozere M, Weedon MN, Tyrrell J, Barratt J, Gale DP, Oram RA (2020) IgA Nephropathy genetic risk score to estimate the prevalence of iga nephropathy in UK Biobank. Kidney Int Rep 5(10):1643\u20131650. https:\/\/doi.org\/10.1016\/j.ekir.2020.07.012","journal-title":"Kidney Int Rep"},{"key":"5789_CR36","doi-asserted-by":"publisher","unstructured":"Downie ML, Gupta S, Tekman MC, Cheshire C, Arora S, Licht C, Robinson LA, Munoz M, Aris AM, Al Attrach I, Brenchley PE, Gale DP, Stanescu H, Bockenhauer D, Kleta R (2021) Identification of a Locus on the X Chromosome Linked to Familial Membranous Nephropathy. Kidney Int Rep. Published online. https:\/\/doi.org\/10.1016\/j.ekir.2021.02.025","DOI":"10.1016\/j.ekir.2021.02.025"},{"issue":"1","key":"5789_CR37","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1681\/ASN.2021060794","volume":"33","author":"AJB Watts","year":"2022","unstructured":"Watts AJB, Keller KH, Lerner G, Rosales I, Collins AB, Sekulic M, Waikar SS, Chandraker A, Riella LV, Alexander MP, Troost JP, Chen J, Fermin D, Yee JL, Sampson MG, Beck LH, Henderson JM, Greka A, Rennke HG, Weins A (2022) Discovery of autoantibodies targeting nephrin in minimal change disease supports a novel autoimmune etiology. J Am Soc Nephrol 33(1):238\u2013252. https:\/\/doi.org\/10.1681\/ASN.2021060794","journal-title":"J Am Soc Nephrol"},{"issue":"12","key":"5789_CR38","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1038\/s41581-019-0217-5","volume":"15","author":"MA Saleem","year":"2019","unstructured":"Saleem MA (2019) Molecular stratification of idiopathic nephrotic syndrome. Nat Rev Nephrol 15(12):750\u2013765. https:\/\/doi.org\/10.1038\/s41581-019-0217-5","journal-title":"Nat Rev Nephrol"},{"issue":"10","key":"5789_CR39","doi-asserted-by":"publisher","first-page":"3055","DOI":"10.1681\/ASN.2016101121","volume":"28","author":"A Trautmann","year":"2017","unstructured":"Trautmann A, Schnaidt S, Lipska-Zi\u0119tkiewicz BS, Bodria M, Ozaltin F, Emma F, Anarat A, Melk A, Azocar M, Oh J, Saeed B, Gheisari A, Caliskan S, Gellermann J, LMS H, Jankauskiene A, Drozdz D, Mir S, Balat A et al (2017) Long-term outcome of steroid-resistant nephrotic syndrome in children. J Am Soc Nephrol 28(10):3055\u20133065. https:\/\/doi.org\/10.1681\/ASN.2016101121","journal-title":"J Am Soc Nephrol"}],"container-title":["Pediatric Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-022-05789-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00467-022-05789-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00467-022-05789-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T08:03:57Z","timestamp":1683014637000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00467-022-05789-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,10]]},"references-count":39,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["5789"],"URL":"https:\/\/doi.org\/10.1007\/s00467-022-05789-7","relation":{},"ISSN":["0931-041X","1432-198X"],"issn-type":[{"value":"0931-041X","type":"print"},{"value":"1432-198X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,10]]},"assertion":[{"value":"3 August 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 October 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 October 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 November 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The views expressed are those of the authors and not necessarily those of the NHS, the NIHR, or the Department of Health and Social Care.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclaimer"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}