Analysis of IL-1?, TGF-?, IL-5, ACE, PTPN22 gene polymorphisms, and gene expression levels in Turkish children with IgA vasculitis

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dc.authorscopusid58523852700
dc.authorscopusid57801042800
dc.authorscopusid57226176826
dc.authorscopusid58523504400
dc.authorscopusid57281213900
dc.authorscopusid42360924700
dc.authorscopusid15762370000
dc.contributor.authorTaşkın, R.B.
dc.contributor.authorAydın, İ.
dc.contributor.authorAytaç, G.
dc.contributor.authorImamoglu, S.
dc.contributor.authorTunçay, S.C.
dc.contributor.authorBulut, İ.K.
dc.contributor.authorKaraca, N.E.
dc.date.accessioned2024-08-25T18:35:53Z
dc.date.available2024-08-25T18:35:53Z
dc.date.issued2024
dc.departmentEge Üniversitesien_US
dc.description.abstractObjective: Immunoglobulin-A vasculitis (IgAV) is an inflammatory disease that affects small blood vessels. This study was performed to identify an association between protein tyrosine phosphatase non-receptor type 22 (PTPN22) + 788G > A (rs33996649), transforming growth factor-beta (TGF-?) -509C > T (rs18004069), interleukin 1-beta (IL-1?) -511C > T (rs16944), interleukin 5 (IL-5) -746C/T (rs2069812), and angiotensin-converting enzyme (ACE) I/D (rs4646994) gene polymorphisms, susceptibility to IgAV, as well as the mRNA levels of IL-1?, IL-1?, and TGF-?. Method: A total of 53 patients with IgAV and 50 healthy controls were enrolled. PTPN22, TGF-?, IL-1?, ACE gene polymorphisms, ACE gene I/D polymorphisms, and mRNA expression levels were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) method, allele-specific PCR, and real-time PCR with TaqMan kits, respectively. Results: PTPN22, TGF-?, IL-1?, IL-5, and ACE variants showed no genotype or allele differences between patients with IgAV and controls. Increased levels of IL-1? and TGF-? mRNA expressions were observed in patients with IgAV (p < 0.001). Patients with the IL-1? AG genotype showed significantly increased amounts of arthritis than patients with non-AG (p = 0.004). Age at disease onset was found to be significantly different in patients with IgAV according to the presence of TGF-? TT genotype (p = 0.047). Conclusion: Polymorphisms in PTPN22, TGF-?, IL-5, IL-1?, and ACE genes are unlikely to confer susceptibility to IgAV. However, the presence of the AG genotype of IL-1? is associated with susceptibility to IgAV-related arthritis. This is the first study to report a significant increase in serum mRNA levels of IL-1? and TGF-? in IgAV patients, supporting a susceptibility to IgAV in childhood. © 2023, The Author(s), under exclusive licence to Springer Nature B.V.en_US
dc.description.sponsorshipJeffrey Modell Foundation, JMFen_US
dc.identifier.doi10.1007/s11033-023-08944-x
dc.identifier.issn0301-4851
dc.identifier.issue1en_US
dc.identifier.pmid38085361en_US
dc.identifier.scopus2-s2.0-85179328572en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-023-08944-x
dc.identifier.urihttps://hdl.handle.net/11454/100455
dc.identifier.volume51en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer Science and Business Media B.V.en_US
dc.relation.ispartofMolecular Biology Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.snmz20240825_Gen_US
dc.subjectACE gene polymorphismen_US
dc.subjectIgA vasculitisen_US
dc.subjectProinflammatory cytokine gene polymorphismsen_US
dc.subjectdipeptidyl carboxypeptidaseen_US
dc.subjectinterleukin 1betaen_US
dc.subjectinterleukin 5en_US
dc.subjectnon receptor protein tyrosine phosphatase 22en_US
dc.subjecttransforming growth factor betaen_US
dc.subjectdipeptidyl carboxypeptidaseen_US
dc.subjectinterleukin 5en_US
dc.subjectmessenger RNAen_US
dc.subjectPTPN22 protein, humanen_US
dc.subjecttransforming growth factor betaen_US
dc.subjectadolescenten_US
dc.subjectadulten_US
dc.subjectallele specific polymerase chain reactionen_US
dc.subjectanaphylactoid purpuraen_US
dc.subjectarthritisen_US
dc.subjectArticleen_US
dc.subjectcase control studyen_US
dc.subjectchilden_US
dc.subjectchildhooden_US
dc.subjectcontrolled studyen_US
dc.subjectdisease severityen_US
dc.subjectDNA polymorphismen_US
dc.subjectfemaleen_US
dc.subjectgene expression levelen_US
dc.subjectgene frequencyen_US
dc.subjectgenetic associationen_US
dc.subjectgenetic susceptibilityen_US
dc.subjectgenetic variabilityen_US
dc.subjectgenotypeen_US
dc.subjecthumanen_US
dc.subjectmajor clinical studyen_US
dc.subjectmaleen_US
dc.subjectmRNA expression levelen_US
dc.subjectpolymerase chain reaction restriction fragment length polymorphismen_US
dc.subjectreal time polymerase chain reactionen_US
dc.subjectTurk (people)en_US
dc.subjectyoung adulten_US
dc.subjectanaphylactoid purpuraen_US
dc.subjectarthritisen_US
dc.subjectgene expressionen_US
dc.subjectgenetic polymorphismen_US
dc.subjectgenetic predispositionen_US
dc.subjectgeneticsen_US
dc.subjectsingle nucleotide polymorphismen_US
dc.subjectArthritisen_US
dc.subjectCase-Control Studiesen_US
dc.subjectChilden_US
dc.subjectGene Expressionen_US
dc.subjectGene Frequencyen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectGenotypeen_US
dc.subjectHumansen_US
dc.subjectIgA Vasculitisen_US
dc.subjectInterleukin-5en_US
dc.subjectPeptidyl-Dipeptidase Aen_US
dc.subjectPolymorphism, Geneticen_US
dc.subjectPolymorphism, Single Nucleotideen_US
dc.subjectReal-Time Polymerase Chain Reactionen_US
dc.subjectRNA, Messengeren_US
dc.subjectTransforming Growth Factor betaen_US
dc.titleAnalysis of IL-1?, TGF-?, IL-5, ACE, PTPN22 gene polymorphisms, and gene expression levels in Turkish children with IgA vasculitisen_US
dc.typeArticleen_US

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