{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T21:35:07Z","timestamp":1785015307938,"version":"3.55.0"},"reference-count":53,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T00:00:00Z","timestamp":1680825600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T00:00:00Z","timestamp":1680825600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"the Guangxi Natural Science Foundation Program","award":["2018GXNSFAA281122"],"award-info":[{"award-number":["2018GXNSFAA281122"]}]},{"DOI":"10.13039\/501100011828","name":"Guangxi Zhuang Autonomous Region Health and Family Planning Commission","doi-asserted-by":"publisher","award":["S2017010"],"award-info":[{"award-number":["S2017010"]}],"id":[{"id":"10.13039\/501100011828","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100014358","name":"Second Affiliated Hospital of Soochow University","doi-asserted-by":"publisher","award":["GJPY2018009"],"award-info":[{"award-number":["GJPY2018009"]}],"id":[{"id":"10.13039\/501100014358","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Microscopic polyangiitis (MPA) is an autoimmune disease, characterized by ANCA in blood and necrotizing inflammation of small and medium-sized vessels, one of the three clinical phenotypes of ANCA-associated vasculitis (AAV). Autophagy has been confirmed to be involved in the pathogenesis of AAV. AKT1 is one of the autophagy-regulated proteins. Its single nucleotide polymorphisms (SNPs) are associated with multiple immune-related diseases, but there are rarely studies in AAV. The incidence rate of AAV has a notable geographic difference, and MPA is predominant in China. The aim of this study was to investigate the association between <jats:italic>AKT1<\/jats:italic> SNP and MPA risk. Genotypes of 8 loci in <jats:italic>AKT1<\/jats:italic> were evaluated by multiplex polymerase chain reaction (PCR) and high-throughput sequencing in 416 people, including 208 MPA patients and 208 healthy volunteers from Guangxi in China. Additionally, data of 387 healthy volunteers from China were obtained from the 1000Genomes Project on public database. Differences were observed between the loci (rs2498786, rs2494752, and rs5811155) genotypes in <jats:italic>AKT1<\/jats:italic> and MPA risk (<jats:italic>P<\/jats:italic>\u2009=\u20097.0\u2009\u00d7\u200910<jats:sup>\u20134<\/jats:sup>, <jats:italic>P<\/jats:italic>\u2009=\u20093.0\u2009\u00d7\u200910<jats:sup>\u20134<\/jats:sup>, and <jats:italic>P<\/jats:italic>\u2009=\u20095.9\u2009\u00d7\u200910<jats:sup>\u20135<\/jats:sup>, respectively). A negative association was detected in the Dominant model (<jats:italic>P<\/jats:italic>\u2009=\u20091.2\u2009\u00d7\u200910<jats:sup>\u20133<\/jats:sup>, <jats:italic>P<\/jats:italic>\u2009=\u20092.0\u2009\u00d7\u200910<jats:sup>\u20134<\/jats:sup> and <jats:italic>P<\/jats:italic>\u2009=\u20093.6\u2009\u00d7\u200910<jats:sup>\u20135<\/jats:sup>, respectively). A haplotype (G-G-T) was associated with MPA risk negatively (<jats:italic>P<\/jats:italic>\u2009=\u20097.0\u2009\u00d7\u200910<jats:sup>\u20134<\/jats:sup>). This study suggests that alleles (rs2498786 G, rs2494752 G and rs5811155 insT) are protective factors for MPA and alleles (rs2494752 G and rs5811155 insT) for MPO-ANCA in patients with MPA. There is a haplotype (G-G-T), which is a protective factor for MPA. It suggests that the role of AKT1 in MPA\/AAV needs further study to provide more intervention targets for MPA\/AAV.<\/jats:p>","DOI":"10.1007\/s00438-023-02012-6","type":"journal-article","created":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T17:02:36Z","timestamp":1680886956000},"page":"767-776","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Association between the AKT1 single nucleotide polymorphism (rs2498786, rs2494752 and rs5811155) and microscopic polyangiitis risk in a Chinese population"],"prefix":"10.1007","volume":"298","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6567-7846","authenticated-orcid":false,"given":"Lizhen","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinlan","family":"Rao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingjing","family":"Lan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3765-0643","authenticated-orcid":false,"given":"Yan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimei","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7243-6861","authenticated-orcid":false,"given":"Liepeng","family":"Chu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5671-1969","authenticated-orcid":false,"given":"Chao","family":"Xue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,4,7]]},"reference":[{"key":"2012_CR1","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1016\/S1521-6616(03)00211-0","volume":"109","author":"Z B\u00e1rtfai","year":"2003","unstructured":"B\u00e1rtfai Z, Gaede KI, Russell KA, Murak\u00f6zy G, M\u00fcller-Quernheim J, Specks U (2003) Different gender-associated genotype risks of Wegener\u2019s granulomatosis and microscopic polyangiitis. Clin Immunol 109:330\u2013337","journal-title":"Clin Immunol"},{"key":"2012_CR2","doi-asserted-by":"publisher","first-page":"2338","DOI":"10.1002\/art.40313","volume":"69","author":"A Berti","year":"2017","unstructured":"Berti A, Cornec D, Crowson CS, Specks U, Matteson EL (2017) The Epidemiology of Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis in Olmsted County, Minnesota: A Twenty-Year US Population-Based Study. Arthritis Rheumatol 69:2338\u20132350","journal-title":"Arthritis Rheumatol"},{"key":"2012_CR3","doi-asserted-by":"publisher","first-page":"4237","DOI":"10.1182\/blood-2009-11-255323","volume":"115","author":"J Chen","year":"2010","unstructured":"Chen J, Tang H, Hay N, Xu J, Ye RD (2010) Akt isoforms differentially regulate neutrophil functions. Blood 115:4237\u20134246","journal-title":"Blood"},{"key":"2012_CR4","doi-asserted-by":"crossref","unstructured":"Cheng TH, Thompson DJ, O'Mara TA, Painter JN, Glubb DM, Flach S, Lewis A, French JD, Freeman-Mills L, Church D, Gorman M, Martin L, National Study of Endometrial Cancer Genetics G, Hodgson S, Webb PM, Australian National Endometrial Cancer Study G, Attia J, Holliday EG, McEvoy M, Scott RJ, Henders AK, Martin NG, Montgomery GW, Nyholt DR, Ahmed S, Healey CS, Shah M, Dennis J, Fasching PA, Beckmann MW, Hein A, Ekici AB, Hall P, Czene K, Darabi H, Li J, Dork T, Durst M, Hillemanns P, Runnebaum I, Amant F, Schrauwen S, Zhao H, Lambrechts D, Depreeuw J, Dowdy SC, Goode EL, Fridley BL, Winham SJ, Njolstad TS, Salvesen HB, Trovik J, Werner HM, Ashton K, Otton G, Proietto T, Liu T, Mints M, Tham E, Rendocas, Consortium C, Jun Li M, Yip SH, Wang J, Bolla MK, Michailidou K, Wang Q, Tyrer JP, Dunlop M, Houlston R, Palles C, Hopper JL, Group A, Peto J, Swerdlow AJ, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Chang-Claude J, Couch FJ, Giles GG, Kristensen VN, Cox A, Cunningham JM, Pharoah PDP, Dunning AM, Edwards SL, Easton DF, Tomlinson I, Spurdle AB (2016) Five endometrial cancer risk loci identified through genome-wide association analysis. Nat Genet 48:667-674","DOI":"10.1038\/ng.3562"},{"key":"2012_CR5","doi-asserted-by":"publisher","first-page":"120012","DOI":"10.1016\/j.biomaterials.2020.120012","volume":"246","author":"Y Duan","year":"2020","unstructured":"Duan Y, Zheng H, Li Z, Yao Y, Ding J, Wang X, Nakkala JR, Zhang D, Wang Z, Zuo X, Zheng X, Ling J, Gao C (2020) Unsaturated polyurethane films grafted with enantiomeric polylysine promotes macrophage polarization to a M2 phenotype through PI3K\/Akt1\/mTOR axis. Biomaterials 246:120012","journal-title":"Biomaterials"},{"key":"2012_CR6","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1111\/imr.12447","volume":"273","author":"J El-Benna","year":"2016","unstructured":"El-Benna J, Hurtado-Nedelec M, Marzaioli V, Marie JC, Gougerot-Pocidalo MA, Dang PM (2016) Priming of the neutrophil respiratory burst: role in host defense and inflammation. Immunol Rev 273:180\u2013193","journal-title":"Immunol Rev"},{"key":"2012_CR7","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1038\/ng2046","volume":"39","author":"M Fanciulli","year":"2007","unstructured":"Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SC, de Smith A, Blakemore AI, Froguel P, Owen CJ, Pearce SH, Teixeira L, Guillevin L, Graham DS, Pusey CD, Cook HT, Vyse TJ, Aitman TJ (2007) FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 39:721\u2013723","journal-title":"Nat Genet"},{"key":"2012_CR8","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1053\/j.ajkd.2019.04.031","volume":"75","author":"D Geetha","year":"2020","unstructured":"Geetha D, Jefferson JA (2020) ANCA-associated vasculitis: core curriculum 2020. Am J Kidney Dis 75:124\u2013137","journal-title":"Am J Kidney Dis"},{"key":"2012_CR9","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1006\/clim.1999.4811","volume":"94","author":"M Gencik","year":"2000","unstructured":"Gencik M, Meller S, Borgmann S, Sitter T, Menezes Saecker AM, Fricke H, Epplen JT (2000) The association of CD18 alleles with anti-myeloperoxidase subtypes of ANCA-associated systemic vasculitides. Clin Immunol 94:9\u201312","journal-title":"Clin Immunol"},{"key":"2012_CR10","doi-asserted-by":"publisher","first-page":"2519","DOI":"10.1080\/15548627.2022.2039994","volume":"18","author":"I Grosjean","year":"2022","unstructured":"Grosjean I, Romeo B, Domdom MA, Belaid A, D\u2019Andrea G, Guillot N, Gherardi RK, Gal J, Milano G, Marquette CH, Hung RJ, Landi MT, Han Y, Brest P, Von Bergen M, Klionsky DJ, Amos CI, Hofman P, Mograbi B (2022) Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases. Autophagy 18:2519\u20132536","journal-title":"Autophagy"},{"key":"2012_CR11","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/j.lfs.2015.11.011","volume":"143","author":"L Guo","year":"2015","unstructured":"Guo L, Wu H, Zhu J, Zhang C, Ma J, Lan J, Xie X (2015) Genetic variations in the PI3K\/AKT pathway predict platinum-based neoadjuvant chemotherapeutic sensitivity in squamous cervical cancer. Life Sci 143:217\u2013224","journal-title":"Life Sci"},{"key":"2012_CR12","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1126\/scisignal.aae0453","volume":"9","author":"DM Houslay","year":"2016","unstructured":"Houslay DM, Anderson KE, Chessa T, Kulkarni S, Fritsch R, Downward J, Backer JM, Stephens LR, Hawkins PT (2016) Coincident signals from GPCRs and receptor tyrosine kinases are uniquely transduced by PI3Kbeta in myeloid cells. Sci Signal. 9:82","journal-title":"Sci Signal."},{"key":"2012_CR13","doi-asserted-by":"publisher","first-page":"221","DOI":"10.3390\/cells8020138","volume":"8","author":"YJ Jang","year":"2019","unstructured":"Jang YJ, Kim JH, Byun S (2019) Modulation of Autophagy for Controlling Immunity. Cells 8:221","journal-title":"Cells"},{"key":"2012_CR14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/art.37715","volume":"65","author":"JC Jennette","year":"2013","unstructured":"Jennette JC, Falk RJ, Bacon PA, Basu N, Cid MC, Ferrario F, Flores-Suarez LF, Gross WL, Guillevin L, Hagen EC, Hoffman GS, Jayne DR, Kallenberg CG, Lamprecht P, Langford CA, Luqmani RA, Mahr AD, MattesonEL MPA, Ozen S, Pusey CD, Rasmussen N, Rees AJ, Scott DG, Specks U, Stone JH, Takahashi K, Watts RA (2013) 2012 revised International Chapel Hill Consensus Conference Nomenclature of Vasculitides. Arthritis Rheum 65:1\u201311","journal-title":"Arthritis Rheum"},{"key":"2012_CR15","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1093\/rheumatology\/kep280","volume":"48","author":"L Kamesh","year":"2009","unstructured":"Kamesh L, Heward JM, Williams JM, Gough SC, Chavele KM, Salama A, Pusey C, Savage CO, Harper L (2009) CT60 and +49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis. Rheumatology (oxford) 48:1502\u20131505","journal-title":"Rheumatology (oxford)"},{"key":"2012_CR16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41435-021-00123-x","volume":"22","author":"A Kawasaki","year":"2021","unstructured":"Kawasaki A, Tsuchiya N (2021) Advances in the genomics of ANCA-associated vasculitis-a view from East Asia. Genes Immun 22:1\u201311","journal-title":"Genes Immun"},{"key":"2012_CR17","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1038\/gene.2013.45","volume":"14","author":"A Kawasaki","year":"2013","unstructured":"Kawasaki A, Inoue N, Ajimi C, Sada KE, Kobayashi S, Yamada H, Furukawa H, Sumida T, Tohma S, Miyasaka N, Matsuo S, Ozaki S, Hashimoto H, Makino H, Harigai M, Tsuchiya N (2013) Association of IRF5 polymorphism with MPO-ANCA-positive vasculitis in a Japanese population. Genes Immun 14:527\u2013529","journal-title":"Genes Immun"},{"key":"2012_CR18","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1186\/s13075-020-02347-0","volume":"22","author":"A Kawasaki","year":"2020","unstructured":"Kawasaki A, Namba N, Sada KE, Hirano F, Kobayashi S, Nagasaka K, Sugihara T, Ono N, Fujimoto T, Kusaoi M, Tamura N, Yamagata K, Sumida T, Hashimoto H, Ozaki S, Makino H, Arimura Y, Harigai M, Tsuchiya N (2020) Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study. Arthritis Res Ther 22:246","journal-title":"Arthritis Res Ther"},{"key":"2012_CR19","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.24437","author":"EF Kenny","year":"2017","unstructured":"Kenny EF, Herzig A, Kruger R, Muth A, Mondal S, Thompson PR, Brinkmann V, Bernuth HV, Zychlinsky A (2017) Diverse stimuli engage different neutrophil extracellular trap pathways. Elife. https:\/\/doi.org\/10.7554\/eLife.24437","journal-title":"Elife"},{"key":"2012_CR20","doi-asserted-by":"publisher","first-page":"7390","DOI":"10.3390\/ijms21197319","volume":"21","author":"A Kronbichler","year":"2020","unstructured":"Kronbichler A, Lee KH, Denicolo S, Choi D, Lee H, Ahn D, Kim KH, Lee JH, Kim H, Hwang M, Jung SW, Lee C, Lee H, Sung H, Lee D, Hwang J, Kim S, Hwang I, Kim DY, Kim HJ, Cho G, Cho Y, Kim D, Choi M, Park J, Park J, Tizaoui K, Li H, Smith L, Koyanagi A, Jacob L, Gauckler P, Shin JI (2020) Immunopathogenesis of ANCA-associated vasculitis. Int J Mol Sci 21:7390","journal-title":"Int J Mol Sci"},{"key":"2012_CR21","doi-asserted-by":"publisher","first-page":"23","DOI":"10.18632\/oncotarget.6627","volume":"7","author":"N Li","year":"2016","unstructured":"Li N, Luo H, Liu X, Ma S, Lin H, Chen R, Hao F, Zhang D (2016a) Association study of polymorphisms in FOXO3, AKT1 and IGF-2R genes with human longevity in a Han Chinese population. Oncotarget 7:23\u201332","journal-title":"Oncotarget"},{"key":"2012_CR22","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1159\/000441912","volume":"1","author":"ZY Li","year":"2016","unstructured":"Li ZY, Ma TT, Chen M, Zhao MH (2016b) The prevalence and management of anti-neutrophil cytoplasmic antibody-associated vasculitis in China. Kidney Dis (basel) 1:216\u2013223","journal-title":"Kidney Dis (basel)"},{"key":"2012_CR23","doi-asserted-by":"publisher","first-page":"20252","DOI":"10.18632\/oncotarget.15690","volume":"8","author":"X Li","year":"2017","unstructured":"Li X, Zhang R, Liu Z, Li S, Xu H (2017) The genetic variants in the PTEN\/PI3K\/AKT pathway predict susceptibility and CE(A)F chemotherapy response to breast cancer and clinical outcomes. Oncotarget 8:20252\u201320265","journal-title":"Oncotarget"},{"key":"2012_CR24","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1186\/s13075-018-1708-7","volume":"20","author":"J Li","year":"2018","unstructured":"Li J, Cui Z, Long JY, Huang W, Wang JW, Wang H, Zhang L, Chen M, Zhao MH (2018) The frequency of ANCA-associated vasculitis in a national database of hospitalized patients in China. Arthritis Res Ther 20:226","journal-title":"Arthritis Res Ther"},{"key":"2012_CR25","doi-asserted-by":"publisher","first-page":"2680","DOI":"10.4049\/jimmunol.1300736","volume":"191","author":"G Liu","year":"2013","unstructured":"Liu G, Bi Y, Wang R, Shen B, Zhang Y, Yang H, Wang X, Liu H, Lu Y, Han F (2013) Kinase AKT1 negatively controls neutrophil recruitment and function in mice. J Immunol 191:2680\u20132690","journal-title":"J Immunol"},{"key":"2012_CR26","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1111\/cns.12430","volume":"21","author":"SY Liu","year":"2015","unstructured":"Liu SY, Zhao HD, Wang JL, Huang T, Tian HW, Yao LF, Tao H, Chen ZW, Wang CY, Sheng ST, Li H, Zhao B, Li KS (2015) Association between polymorphisms of the AKT1 gene promoter and risk of the alzheimer\u2019s disease in a Chinese han population with type 2 diabetes. CNS Neurosci Ther 21:619\u2013625","journal-title":"CNS Neurosci Ther"},{"key":"2012_CR27","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1056\/NEJMoa1108735","volume":"367","author":"PA Lyons","year":"2012","unstructured":"Lyons PA, Rayner TF, Trivedi S, Holle JU, Watts RA, Jayne DR, Baslund B, Brenchley P, Bruchfeld A, Chaudhry AN, Cohen Tervaert JW, Deloukas P, Feighery C, Gross WL, Guillevin L, Gunnarsson I, Harper L, Hru\u0161kov\u00e1 Z, Little MA, Martorana D, Neumann T, Ohlsson S, Padmanabhan S, Pusey CD, Salama AD, Sanders JS, Savage CO, Segelmark M, Stegeman CA, Tesa\u0159 V, Vaglio A, Wieczorek S, Wilde B, Zwerina J, Rees AJ, Clayton DG, Smith KG (2012) Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med 367:214\u2013223","journal-title":"N Engl J Med"},{"key":"2012_CR28","doi-asserted-by":"publisher","first-page":"5120","DOI":"10.1038\/s41467-019-12515-9","volume":"10","author":"PA Lyons","year":"2019","unstructured":"Lyons PA, Peters JE, Alberici F, Liley J, Coulson RMR, Astle W, Baldini C, Bonatti F, Cid MC, Elding H, Emmi G, Epplen J, Guillevin L, Jayne DRW, Jiang T, Gunnarsson I, Lamprecht P, Leslie S, Little MA, Martorana D, Moosig F, Neumann T, Ohlsson S, Quickert S, Ramirez GA, Rewerska B, Schett G, Sinico RA, Szczeklik W, Tesar V, Vukcevic D, European Vasculitis Genetics C, Terrier B, Watts RA, Vaglio A, Holle JU, Wallace C, Smith KGC (2019) Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status. Nat Commun 10:5120","journal-title":"Nat Commun"},{"key":"2012_CR29","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1038\/gene.2008.5","volume":"9","author":"K Mamegano","year":"2008","unstructured":"Mamegano K, Kuroki K, Miyashita R, Kusaoi M, Kobayashi S, Matsuta K, Maenaka K, Colonna M, Ozaki S, Hashimoto H, Takasaki Y, Tokunaga K, Tsuchiya N (2008) Association of LILRA2 (ILT1, LIR7) splice site polymorphism with systemic lupus erythematosus and microscopic polyangiitis. Genes Immun 9:214\u2013223","journal-title":"Genes Immun"},{"key":"2012_CR30","doi-asserted-by":"publisher","first-page":"1054","DOI":"10.1002\/art.40034","volume":"69","author":"PA Merkel","year":"2017","unstructured":"Merkel PA, Xie G, Monach PA, Ji X, Ciavatta DJ, Byun J, Pinder BD, Zhao A, Zhang J, Tadesse Y, Qian D, Weirauch M, Nair R, Tsoi A, Pagnoux C, Carette S, Chung S, Cuthbertson D, Davis JC Jr, Dellaripa PF, Forbess L, Gewurz-Singer O, Hoffman GS, Khalidi N, Koening C, Langford CA, Mahr AD, McAlear C, Moreland L, Seo EP, Specks U, Spiera RF, Sreih A, St Clair EW, Stone JH, Ytterberg SR, Elder JT, Qu J, Ochi T, Hirano N, Edberg JC, Falk RJ, Amos CI, Siminovitch KA (2017) Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis. Arthritis Rheumatol 69:1054\u20131066","journal-title":"Arthritis Rheumatol"},{"key":"2012_CR31","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1002\/art.21653","volume":"54","author":"R Miyashita","year":"2006","unstructured":"Miyashita R, Tsuchiya N, Yabe T, Kobayashi S, Hashimoto H, Ozaki S, Tokunaga K (2006) Association of killer cell immunoglobulin-like receptor genotypes with microscopic polyangiitis. Arthritis Rheum 54:992\u2013997","journal-title":"Arthritis Rheum"},{"key":"2012_CR32","doi-asserted-by":"publisher","first-page":"1564","DOI":"10.1056\/NEJMra2022774","volume":"383","author":"N Mizushima","year":"2020","unstructured":"Mizushima N, Levine B (2020) Autophagy in Human Diseases. N Engl J Med 383:1564\u20131576","journal-title":"N Engl J Med"},{"key":"2012_CR33","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1038\/s41584-018-0145-y","volume":"15","author":"D Nakazawa","year":"2019","unstructured":"Nakazawa D, Masuda S, Tomaru U, Ishizu A (2019) Pathogenesis and therapeutic interventions for ANCA-associated vasculitis. Nat Rev Rheumatol 15:91\u2013101","journal-title":"Nat Rev Rheumatol"},{"key":"2012_CR34","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1083\/jcb.201404028","volume":"207","author":"N Nandi","year":"2014","unstructured":"Nandi N, Tyra LK, Stenesen D, Kramer H (2014) Acinus integrates AKT1 and subapoptotic caspase activities to regulate basal autophagy. J Cell Biol 207:253\u2013268","journal-title":"J Cell Biol"},{"key":"2012_CR35","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1038\/nbt1262","volume":"24","author":"D Park","year":"2006","unstructured":"Park D, Lapteva N, Seethammagari M, Slawin KM, Spencer DM (2006) An essential role for Akt1 in dendritic cell function and tumor immunotherapy. Nat Biotechnol 24:1581\u20131590","journal-title":"Nat Biotechnol"},{"key":"2012_CR36","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1002\/gps.4018","volume":"29","author":"PA Pereira","year":"2014","unstructured":"Pereira PA, Bicalho MA, de Moraes EN, Malloy-Diniz L, Bozzi IC, Nicolato R, Valad\u00e3o DR, Miranda DM, Romano-Silva MA (2014) Genetic variant of AKT1 and AKTIP associated with late-onset depression in a Brazilian population. Int J Geriatr Psychiatry 29:399\u2013405","journal-title":"Int J Geriatr Psychiatry"},{"key":"2012_CR37","doi-asserted-by":"publisher","first-page":"1687","DOI":"10.1136\/annrheumdis-2015-207601","volume":"75","author":"C Rahmattulla","year":"2016","unstructured":"Rahmattulla C, Mooyaart AL, van Hooven D, Schoones JW, Bruijn JA, Dekkers OM, Bajema IM (2016) Genetic variants in ANCA-associated vasculitis: a meta-analysis. Ann Rheum Dis 75:1687\u20131692","journal-title":"Ann Rheum Dis"},{"key":"2012_CR38","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1006\/clim.2002.5206","volume":"103","author":"WF Reynolds","year":"2002","unstructured":"Reynolds WF, Stegeman CA, Tervaert JW (2002) 463 G\/A myeloperoxidase promoter polymorphism is associated with clinical manifestations and the course of disease in MPO-ANCA-associated vasculitis. Clin Immunol 103:154\u2013160","journal-title":"Clin Immunol"},{"key":"2012_CR39","doi-asserted-by":"publisher","first-page":"3007","DOI":"10.1182\/blood-2012-03-416156","volume":"120","author":"S Sangaletti","year":"2012","unstructured":"Sangaletti S, Tripodo C, Chiodoni C, Guarnotta C, Cappetti B, Casalini P, Piconese S, Parenza M, Guiducci C, Vitali C, Colombo MP (2012) Neutrophil extracellular traps mediate transfer of cytoplasmic neutrophil antigens to myeloid dendritic cells toward ANCA induction and associated autoimmunity. Blood 120:3007\u20133018","journal-title":"Blood"},{"key":"2012_CR40","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1016\/j.cell.2017.03.035","volume":"169","author":"RA Saxton","year":"2017","unstructured":"Saxton RA, Sabatini DM (2017) mTOR Signaling in Growth, Metabolism, and Disease. Cell 169:361\u2013371","journal-title":"Cell"},{"key":"2012_CR41","doi-asserted-by":"publisher","first-page":"658","DOI":"10.1177\/1753425916668981","volume":"22","author":"LL Sha","year":"2016","unstructured":"Sha LL, Wang H, Wang C, Peng HY, Chen M, Zhao MH (2016) Autophagy is induced by anti-neutrophil cytoplasmic Abs and promotes neutrophil extracellular traps formation. Innate Immun 22:658\u2013665","journal-title":"Innate Immun"},{"key":"2012_CR42","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.clim.2008.03.506","volume":"128","author":"MC Slot","year":"2008","unstructured":"Slot MC, Sokolowska MG, Savelkouls KG, Janssen RG, Damoiseaux JG, Tervaert JW (2008) Immunoregulatory gene polymorphisms are associated with ANCA-related vasculitis. Clin Immunol 128:39\u201345","journal-title":"Clin Immunol"},{"key":"2012_CR43","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1016\/0888-7543(88)90114-0","volume":"2","author":"SP Staal","year":"1988","unstructured":"Staal SP, Huebner K, Croce CM, Parsa NZ, Testa JR (1988) The AKT1 proto-oncogene maps to human chromosome 14, band q32. Genomics 2:96\u201398","journal-title":"Genomics"},{"key":"2012_CR44","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1111\/cei.12589","volume":"180","author":"S Tang","year":"2015","unstructured":"Tang S, Zhang Y, Yin SW, Gao XJ, Shi WW, Wang Y, Huang X, Wang L, Zou LY, Zhao JH, Huang YJ, Shan LY, Gounni AS, Wu YZ, Zhang JB (2015) Neutrophil extracellular trap formation is associated with autophagy-related signalling in ANCA-associated vasculitis. Clin Exp Immunol 180:408\u2013418","journal-title":"Clin Exp Immunol"},{"key":"2012_CR45","doi-asserted-by":"publisher","first-page":"7326","DOI":"10.1073\/pnas.1909546117","volume":"117","author":"HR Thiam","year":"2020","unstructured":"Thiam HR, Wong SL, Qiu R, Kittisopikul M, Vahabikashi A, Goldman AE, Goldman RD, Wagner DD, Waterman CM (2020a) NETosis proceeds by cytoskeleton and endomembrane disassembly and PAD4-mediated chromatin decondensation and nuclear envelope rupture. Proc Natl Acad Sci U S A 117:7326\u20137337","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2012_CR46","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1146\/annurev-cellbio-020520-111016","volume":"36","author":"HR Thiam","year":"2020","unstructured":"Thiam HR, Wong SL, Wagner DD, Waterman CM (2020b) Cellular Mechanisms of NETosis. Annu Rev Cell Dev Biol 36:191\u2013218","journal-title":"Annu Rev Cell Dev Biol"},{"key":"2012_CR47","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1038\/s41584-022-00819-y","volume":"18","author":"G Trivioli","year":"2022","unstructured":"Trivioli G, Marquez A, Martorana D, Tesi M, Kronbichler A, Lyons PA, Vaglio A (2022) Genetics of ANCA-associated vasculitis: role in pathogenesis, classification and management. Nat Rev Rheumatol 18:559\u2013574","journal-title":"Nat Rev Rheumatol"},{"key":"2012_CR48","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2021.102911","volume":"20","author":"Y Vegting","year":"2021","unstructured":"Vegting Y, Vogt L, Anders HJ, de Winther MPJ, Bemelman FJ, Hilhorst ML (2021) Monocytes and macrophages in ANCA-associated vasculitis. Autoimmun Rev 20:102911","journal-title":"Autoimmun Rev"},{"key":"2012_CR49","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/j.immuni.2015.11.011","volume":"44","author":"S Volmering","year":"2016","unstructured":"Volmering S, Block H, Boras M, Lowell CA, Zarbock A (2016) The Neutrophil Btk Signalosome Regulates Integrin Activation during Sterile Inflammation. Immunity 44:73\u201387","journal-title":"Immunity"},{"key":"2012_CR50","doi-asserted-by":"publisher","first-page":"20008","DOI":"10.1038\/srep20008","volume":"6","author":"MY Wang","year":"2016","unstructured":"Wang MY, He J, Zhu ML, Teng XY, Li QX, Sun MH, Wang XF, Yang YJ, Wang JC, Jin L, Wang YN, Wei QY (2016) A Functional Polymorphism (rs2494752) in the AKT1 Promoter Region and Gastric Adenocarcinoma Risk in an Eastern Chinese Population. Sci Rep 6:20008","journal-title":"Sci Rep"},{"key":"2012_CR51","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1016\/j.kint.2019.06.015","volume":"96","author":"HY Wang","year":"2019","unstructured":"Wang HY, Cui Z, Pei ZY, Fang SB, Chen SF, Zhu L, Chen M, Chen N, Zhao MH (2019) Risk HLA class II alleles and amino acid residues in myeloperoxidase-ANCA-associated vasculitis. Kidney Int 96:1010\u20131019","journal-title":"Kidney Int"},{"key":"2012_CR52","doi-asserted-by":"publisher","first-page":"224","DOI":"10.3109\/14397595.2014.950034","volume":"25","author":"Z Wu","year":"2015","unstructured":"Wu Z, Xu J, Sun F, Chen H, Wu Q, Zheng W, Li P, Bai Y, Zhang F, Li Y (2015) Single nucleotide polymorphisms in the toll-like receptor 2 (TLR2) gene are associated with microscopic polyangiitis in the northern Han Chinese population. Mod Rheumatol 25:224\u2013229","journal-title":"Mod Rheumatol"},{"key":"2012_CR53","doi-asserted-by":"publisher","first-page":"1237","DOI":"10.1159\/000430293","volume":"36","author":"Y Zhou","year":"2015","unstructured":"Zhou Y, Pasham V, Chatterjee S, Rotte A, Yang W, Bhandaru M, Singh Y, Lang F (2015) Regulation of Na(+)\/H(+) Exchanger in Dendritic Cells by Akt1. Cell Physiol Biochem 36:1237\u20131249","journal-title":"Cell Physiol Biochem"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-023-02012-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00438-023-02012-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-023-02012-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,26]],"date-time":"2023-04-26T08:09:52Z","timestamp":1682496592000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00438-023-02012-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,7]]},"references-count":53,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["2012"],"URL":"https:\/\/doi.org\/10.1007\/s00438-023-02012-6","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,7]]},"assertion":[{"value":"31 May 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 March 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 April 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no conflicting interests to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study protocol for recruitment was approved by the local Ethics Committee of the Second Affiliated Hospital of Guangxi Medical University (NO. 2018 KY-0100), and was conducted in accord with the Declaration of Helsinki. Informed consent was obtained from all participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}