Analysis of IL-1?, TGF-?, IL-5, ACE, PTPN22 gene polymorphisms, and gene expression levels in Turkish children with IgA vasculitis
Küçük Resim Yok
Tarih
2024
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer Science and Business Media B.V.
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Objective: 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.
Açıklama
Anahtar Kelimeler
ACE gene polymorphism, IgA vasculitis, Proinflammatory cytokine gene polymorphisms, dipeptidyl carboxypeptidase, interleukin 1beta, interleukin 5, non receptor protein tyrosine phosphatase 22, transforming growth factor beta, dipeptidyl carboxypeptidase, interleukin 5, messenger RNA, PTPN22 protein, human, transforming growth factor beta, adolescent, adult, allele specific polymerase chain reaction, anaphylactoid purpura, arthritis, Article, case control study, child, childhood, controlled study, disease severity, DNA polymorphism, female, gene expression level, gene frequency, genetic association, genetic susceptibility, genetic variability, genotype, human, major clinical study, male, mRNA expression level, polymerase chain reaction restriction fragment length polymorphism, real time polymerase chain reaction, Turk (people), young adult, anaphylactoid purpura, arthritis, gene expression, genetic polymorphism, genetic predisposition, genetics, single nucleotide polymorphism, Arthritis, Case-Control Studies, Child, Gene Expression, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, IgA Vasculitis, Interleukin-5, Peptidyl-Dipeptidase A, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Real-Time Polymerase Chain Reaction, RNA, Messenger, Transforming Growth Factor beta
Kaynak
Molecular Biology Reports
WoS Q Değeri
Scopus Q Değeri
Q2
Cilt
51
Sayı
1
