Complement C2 polymorphisms in children with Henoch Schönlein purpura

Yıl 2020, Cilt: 45 Sayı: 1, 89 - 95, 31.03.2020

Rabia Miray Kisla Ekinci Sibel Balci Bahriye Atmis Aysun Karabay Bayazit Dilek Dogruel Derya Ufuk Altintas Atil Bisgin

https://doi.org/10.17826/cumj.628636

Öz

Purpose: The aim of this study was to investigate whether C2 polymorphisms influence the symptoms and disease outcomes in children with Henoch Schönlein purpura (HSP).
Materials and Methods: This cross-sectional study included 49 children with HSP, diagnosed and followed for at least 6 months in our department between July 2016 and March 2018. Sanger sequencing was performed for detecting C2 gene polymorphisms. Statistical analysis was performed for comparison of clinical and laboratory parameters between patients according to having C2 polymorphisms.
Results: Only 6 patients (12.2%) had following C2 gene polymorphisms: rs9332739 (n=3), rs36221133 (n=2), rs146054348 (n=1). Age at disease onset, gastrointestinal and joint involvement, serum complement levels, renal involvement, requirement of systemic steroids and disease relapse were found similar between the patients with and without C2 gene polymorphism. We found higher serum IgM level and lower leukocyte counts in HSP patients with confirmed C2 polymorphisms than the patients with normal C2 gene.
Conclusion: Although C2 gene polymorphisms were not related to clinical manifestations and disease outcome in children with HSP, we speculate that C2 gene polymorphisms may be associated with elevated serum IgM levels in patients with HSP. 

Anahtar Kelimeler

C2 gene, Henoch Schönlein Purpura, IgA vasculitis, polymorphism

Destekleyen Kurum

Cukurova University Scientific Research Projects Coordination Unit

Proje Numarası

TSA-2018-10124

Teşekkür

This work was supported by the grants from the Cukurova University Scientific Research Projects Coordination Unit (TSA-2018-10124), Adana, Turkey.

Henoch Schönlein Purpurası tanılı çocuklarda Kompleman C2 gen polimorfizmleri

Öz

Amaç: Bu çalışmada Henoch Shönlein purpurası (HSP) tanılı çocuklarda C2 gen polimorfizmlerinin semptomlar ve hastalık şiddeti üzerine etkilerinin incelenmesi amaçlanmıştır.
Gereç ve Yöntem: Bu kesitsel çalışmaya kliniğimizde Temmuz 2016 ve Mart 2018 tarihleri arasında HSP tanısı almış ve en az 6 ay takip edilmiş olan 49 çocuk hasta dahil edilmiştir. Kompleman C2 gen polimorfizmlerini değerlendirmek amacı ile Sanger sekanslama tekniği kullanılmıştır. Hastalar C2 gen polimorfizm varlığına gruplara ayrılarak klinik ve laboratuvar verileri karşılaştırılmıştır.
Bulgular: Çalışmamızda sadece 6 (%12,2) hastada C2 gen polimorfizmleri saptanmıştır. Bunlar; rs9332739 (n=3), rs36221133 (n=2), rs146054348 (n=1) olarak sıralanabilir. C2 gen polimorfizmleri varlığına göre hasta grupları arasında yaş, gastrointestinal ve eklem tutulumları, serum kompleman düzeyleri, böbrek tutulumu, sistemik steroid gereksinimi ve hastalık relaps oranları benzer bulunmuştur. C2 gen polimorfizmi olan hastalarda, olmayanlara göre istatistiksel anlamlı olarak daha yüksek serum IgM düzeyi ve daha düşük lökosit sayısı saptanmıştır.
Sonuç: Konusunda ilk olan çalışmamızda her ne kadar C2 gen polimorfizmlerinin HSP’li hastalarda klinik bulgular ve hastalık seyri üzerine etkisi gösterilememiş olsa da, HSP tanılı hastalarda yüksek serum IgM düzeyi C2 gen polimorfizmi ile ilişkili olabilir. 

Anahtar Kelimeler

C2 geni, Henoch Schönlein Purpurası, IgA vasküliti, polimorfizm

Proje Numarası

TSA-2018-10124

Kaynakça

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