Analysis of IL-1β, TGF-β, IL-5, ACE, PTPN22 gene polymorphisms, and gene expression levels in Turkish children with IgA vasculitis
Makaleler > Tam Makale · 2024
Yazarlar: Raziye Burcu Taşkın, İlyas AYDIN, Gülçin Aytaç, Süleyman Imamoglu, Secil Conkar Tunçay, İpek Kaplan Bulut, Neslihan KARACA, Güzide AKSU, Afig BERDELİ, Necil KÜTÜKÇÜLER
MOLECULAR BIOLOGY REPORTS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2024, cilt 51, ss 15-15
DOI: 10.1007/s11033-023-08944-x
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-β) -509C > T (rs18004069), interleukin 1-beta (IL-1β) -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-1β, IL-1β, and TGF-β. Method: A total of 53 patients with IgAV and 50 healthy controls were enrolled. PTPN22, TGF-β, IL-1β, 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-β, IL-1β, IL-5, and ACE variants showed no genotype or allele differences between patients with IgAV and controls. Increased levels of IL-1β and TGF-β mRNA expressions were observed in patients with IgAV (p < 0.001). Patients with the IL-1β 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-β TT genotype (p = 0.047). Conclusion: Polymorphisms in PTPN22, TGF-β, IL-5, IL-1β, and ACE genes are unlikely to confer susceptibility to IgAV. However, the presence of the AG genotype of IL-1β is associated with susceptibility to IgAV-related arthritis. This is the first study to report a significant increase in serum mRNA levels of IL-1β and TGF-β in IgAV patients, supporting a susceptibility to IgAV in childhood.