Sistemik Lupus Eritematozus’lu Hastalarda C-Reaktif Proteindeki Tek Nükleotid Polimorfizmlerin Araştırılması

Öz

Amaç: Bu çalışmada, sistemik lupus eritematozus (SLE) hastalarında C-reaktif protein (CRP) gen polimorfizmlerinin sıklığı ve bu polimorfizmlerin hastalığın klinik ve laboratuvar özellikleriyle ilişkisi araştırıldı. Gereç ve Yöntemler: Üçüncü basamak hastanede romatoloji bölümüne başvuran SLE hastaları çalışmaya dahil edildi. Romatolojik ve sistemik hastalık öyküsü olmayan yaş-cinsiyet eşleştirilmiş sağlıklı bireyler kontrol grubu olarak seçildi. CRP genindeki tek nükleotid polimorfizmleri (rs1130864, rs1205 ve rs1800947) her iki grupta da genotiplendirildi. Rs1205 (CC/CT/TT), rs1130864 (CC/CT/TT) ve rs1800947 (CC/GC) için genotip sıklıkları hastalar ve kontrol grupları arasında karşılaştırıldı. SLE hastalarında polimorfizmlerin varlığı ve hastalığın klinik belirtileri arasındaki ilişki incelendi. Bulgular: Bu çalışmaya 74 SLE hastası ve 72 sağlıklı kontrol dahil edildi. SLE grubunda genotip sıklıkları şu şekildeydi: Rs1205: CC, % 43,7 (n=31); CT, % 46,5 (n=33); ve TT, % 9,9 (n=7); rs1130864: CC, % 54,3 (n=38); CT, % 42,9 (n=30); ve TT, % 2,9 (n=2); rs1800947: GC, % 93,1 (n=67). SLE hastaları ve kontroller arasında CRP genindeki tek nükleotid polimorfizmleri sıklıklarında istatistiksel olarak anlamlı bir fark gözlenmedi. Rs1205 CC genotipi, SLE hastalarında daha yüksek oral ülser sıklığı ve daha düşük kompleman seviyeleri ile ilişkilendirildi. Sonuç: CRP geni tek nükleotid polimorfizmleri ile SLE yatkınlığı arasında bir ilişki saptanmamış olsa da, bu polimorfizmler SLE hastalarının belirli klinik özelliklerini etkileyebilir.

Anahtar Kelimeler

• Sistemik lupus eritematozus
• c-reaktif protein
• biomarker
• tek nükleotid polimorfizmleri
• genetik polimorfizm

INVESTIGATION OF SINGLE NUCLEOTIDE POLYMORPHISMS IN C-REACTIVE PROTEIN IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS

Öz

Objective: This study investigated the frequency of C-reactive protein (CRP) gene polymorphisms and their association with clinical and laboratory features in systemic lupus erythematosus (SLE). Material and Methods: A cohort of SLE patients presenting to the tertiary rheumatology department center was enrolled. Agesex matched healthy individuals without a history of rheumatologic/systemic disease served as controls. Single nucleotide polymorphisms (SNPs) within the CRP gene (rs1130864, rs1205, and rs1800947) were genotyped in both groups. The genotype frequencies for rs1205 (CC/CT/TT), rs1130864 (CC/CT/TT), and rs1800947 (CC/GC) were compared between SLE patients and controls. Associations between SNPs and clinical manifestations of SLE patients were assessed. Results: This study included 74 SLE patients and 72 healthy controls. In the SLE group, genotype frequencies were as follows: Rs1205: CC, 43.7 % (n=31); CT, 46.5 % (n=33); and TT, 9.9 % (n=7); rs1130864: CC, 54.3 % (n=38); CT, 42.9 % (n=30); and TT, 2.9 % (n=2); rs1800947: GC, 93.1 % (n=67). No statistically significant differences in SNP frequencies were observed between SLE patients and controls. The rs1205 CC genotype was associated with higher prevalence of oral ulcers and lower complement levels in SLE patients. Conclusion: While no association with disease susceptibility was identified, CRP gene polymorphisms may influence specific clinical features of SLE patients.

Anahtar Kelimeler

• Systemic lupus erythematosus
• c-reactive protein
• biomarker
• single nucleotide polymorphism
• genetic polymorphism

Kaynakça

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