Mersin ilinde yaşayan çocuklarda MASP-2 Geni Asp105Gly polimorfizmi ile romatizmal kalp hastalığı arasındaki ilişkinin değerlendirilmesi

Yıl 2022, Cilt: 15 Sayı: 2, 311 - 319, 31.08.2022

Nazan Eras , Etem Akbaş Olgu Haliloğlu , Oznur Bucak , Derya Karpuz , Sibel Balcı , Badel Arslan

https://doi.org/10.26559/mersinsbd.1095819

Öz

Amaç: Mannoz bağlayıcı lektinler ile ilişkili serin proteaz (MASP) lektin yolu ile kompleman aktivasyonunda rol oynayan bir proteazdır. MASP-2'nin fonksiyonel aktivasyonunun enfeksiyon hastalıklarının gelişim sürecine katkıda bulunduğu düşünülmektedir. MASP-2 geninin 3. ekzonundaki adenin ile guaninin yer değiştirmesi, 105. pozisyonda aspartik asidin glisin amino asid (Asp105Gly) ile değişimine neden olur. Bu aminoasit değişikliği lektin yolunun aktivasyonunu durdurabilir ve ortaya çıkan MASP-2 eksikliği, enfeksiyon ve otoimmün hastalıklara yatkınlığı artırabilir. Çalışmamızda MASP2 geni Asp105Gly mutasyonunun insidansını ve romatizmal kalp hastalığı ile ilişkisini araştırmayı hedefledik. Yöntem: Çalışmamız yaş ortalaması 12.48±2.59 olan 82 romatizmal kalp hastası ve yaş ortalaması 11.99±2.66 olan 108 sağlıklı çocuk içerdi. Bireylerin genotipleri polimeraz zincir reaksiyonu–restriksiyon parça uzunluk polimorfizmi yöntemiyle belirlendi. Elde edilen veriler Kruskal Wallis testi ile değerlendirildi. Bulgular: Romatizmal kalp hastaları ve kontrol grubunda G allelinin sıklığı sırasıyla %15.9 ve %20.4 idi (p=0.35). AA, AG ve GG genotiplerinin frekansları vakalarda sırasıyla %70.7, %26.8 ve %2.5 iken, kontrol grubunda sırasıyla %62, %35.2 ve %2.8 idi. GG genotipinin frekansı mitral yetersizlikli hastalarda %5.3, aort yetersizliği olanlarda %0 ve çoklu kapak tutulumu olanlarda %2.1 olarak saptandı (p=0.506, OR:2.636, %95GA:0.151–45.914). Sonuç: Bu çalışma ile Mersin ilinde MASP-2 Asp105Gly mutasyonunun genotip frekansları belirlenmiştir. Ayrıca MASP2 Asp105Gly mutasyonu ile romatizmal kalp hastalığı arasında ilişki olmadığı saptanmıştır.

Anahtar Kelimeler

ARA, çocuk, MASP, PCR, romatizmal kalp hastalığı

Destekleyen Kurum

Bu çalışma Mersin Üniversitesi Bilimsel Araştırma Projeleri Koordinasyon Birimi tarafından desteklenmiştir.

Proje Numarası

BAP-TF TTB (EA)2010-5 A

Teşekkür

Çalışmamıza mali destek sağlayan Mersin Üniversitesi Bilimsel Araştırma Projeleri Koordinasyon Birimine ve çalışmanın istatiksel analizini yapan Prof. Dr. Seval Kul’a teşekkür ederiz.

Evaluation of the relationship between MASP-2 Gene Asp105Gly polymorphism and rheumatic heart disease in children living in Mersin province

Öz

Aim: MBL-associated serine protease (MASP) is a protease that plays a role in complement activation via the lectin pathway. Functional activation of MASP-2 is thought to contribute to the development process of infectious diseases. Substitution of adenine to guanine in exon 3 of the MASP2 gene causes the exchange of aspartic acid with glycine amino acid at position 105 (Asp105Gly). This amino acid change can cause abrogate the activation of the lectin pathway, and the resulting MASP-2 deficiency could increase susceptibility to infections and autoimmune diseases. In our study, we aimed to investigate the incidence of the MASP2 Asp105Gly mutation and its relationship with rheumatic heart disease. Method: Our study included 82 patients with rheumatic heart disease (mean age 12.48±2.59 years) and 108 healthy children (mean age 11.99±2.66 years). Genotypes of individuals were determined by the polymerase chain reaction-restriction fragment length polymorphism method. The data were evaluated with the Kruskal Wallis test. Results: The frequency of the G allele was 15.9% and 20.4% in patients with rheumatic heart disease and control groups, respectively (p=0.35). The frequencies of genotypes AA, AG, and GG in the cases were 70.7%, 26.8%, and 2.5%, respectively, while in the control group they were 62%, 35.2%, and 2.8%, respectively. The frequency of the GG genotype was 5.3% in patients with mitral regurgitation, 0% in patients with aortic regurgitation, and 2.1% in patients with multiple valve involvement (p=0.506; OR:2.636; %95CI:0.151–45.914). Conclusion: In this study, genotype frequencies of MASP2 Asp105Gly mutation were determined in Mersin Province. In addition, no relation was found between MASP2 Asp105Gly mutation and RHD.

Anahtar Kelimeler

ARA, child, MASP, PCR, rheumatic heart disease

Proje Numarası

BAP-TF TTB (EA)2010-5 A

Kaynakça

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