SLE'nin Genetik Karmaşıklığı: Gen Mutasyonlarının ve Klinik Korelasyonların Retrospektif Analizi

Öz

Amaç: Sistemik lupus eritematozus (SLE), otoantikor ve immün kompleks üretimi ile karakterize multisistemik bir otoimmün hastalıktır. Bu çalışma, spesifik gen mutasyonlarını klinik bulgularla ilişkilendirerek SLE patogenezini aydınlatmayı amaçlamaktadır. Gereç ve Yöntem: Bu retrospektif çalışmada, 19 SLE hastasının periferik kanındaki gen mutasyonları yeni nesil dizileme kullanılarak analiz edildi. Bulgular: Her gen mutasyonu için mutasyon oranı ve ilişkili klinik semptomlar incelendi. SLE hastalarında %42'lik bir mutasyon oranı tespit edildi. Çalışma, SLE'nin birden fazla gen mutasyonu ile ilişkili olduğunu ve bunun karmaşık klinik tablosuna katkıda bulunduğunu buldu. Spesifik gen mutasyonları, glomerülonefrit ve poliartrit gibi farklı klinik semptomlarla ilişkiliydi ve SOCS1 mutasyonlarıyla ilişkiliydi. Skolyoz, STAT1 mutasyonlarıyla ilişkiliydi. Işığa duyarlı malar döküntüsü, kompleman mutasyonlarıyla (C1qB, C1qC ve C3) bağlantılıydı. Eritematöz malar döküntüsü, PTPN22 mutasyonlarıyla ilişkiliydi. Ayrıca, artraljiler TREX1 mutasyonlarıyla ilişkiliydi. Sonuç: SLE, farklı gen mutasyonlarından kaynaklanan semptom çeşitliliğine sahip, çok yönlü, multisistem bir otoimmün hastalıktır. Çalışma, klinik semptomlara dayanarak gen mutasyonlarını tahmin ederek ve bu mutasyonları moleküler testlerle doğrulayarak hastaya özgü gen tedavisini savunmaktadır.

Anahtar Kelimeler

• Glomerülonefrit
• Artrit
• SOCS1
• STAT1
• PTPN22
• Kompleman mutasyonları

Genetic Complexity of SLE: A Retrospective Analysis of Gene Mutations and Clinical Correlations

Öz

Aim: To investigate the genetic basis of systemic lupus erythematosus (SLE) by identifying pathogenic gene variants and examining their associations with distinct clinical and phenotypic manifestations, to improve understanding of disease heterogeneity and support the development of personalized therapeutic approaches. Material and Methods: In this retrospective study, gene mutations in the peripheral blood of 19 SLE patients were analyzed using next-generation sequencing. Results: The mutation rate and associated clinical symptoms for each gene mutation were observed. A mutation rate of 42% was discovered among the SLE patients. The study found that SLE is associated with multiple gene mutations, contributing to its complex clinical presentation. Specific gene mutations were associated with distinct clinical symptoms, such as glomerulonephritis and polyarthritis were linked to SOCS1 mutations. Scoliosis was associated with STAT1 mutations. A photosensitive malar rash was connected to complement mutations (C1qB, C1qC, and C3). An erythematous malar rash was related to PTPN22 mutations. Additionally, arthralgias were associated with TREX1 mutations. Conclusion: SLE is a multifaceted, multisystem autoimmune disease with symptom variability from different gene mutations. The study advocates patient-specific gene therapy by predicting gene mutations based on clinical symptoms and confirming these mutations through molecular tests.

Anahtar Kelimeler

• Glomerulonephritis
• Arthritis
• SOCS1
• STAT1
• PTPN22
• Complement mutations

Kaynakça

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