Investigation of glucocorticoid receptor gene Bcl-1 polymorphism in rheumatoid arthritis/romatoid artritte glukokortikoid reseptoru geni Bcl-1 polimorfizminin arastirilmasi

• Published in: Turkish journal of rheumatology Vol. 26; no. 3; p. 199
• Main Authors: Aydeniz, Ali, Sever, Tugce, Pehlivan, Sacide, Pehlivan, Mustafa, Altindag, Ozlem, Budeyri, Selin, Gursoy, Savas
• Format: Journal Article
• Language: English
• Published: Istanbul Turkish League Against Rheumatism 01.09.2011; Prof Sebnem Ataman, President Turkish League Against Rheumatism
• Subjects: Anopheles; Antirheumatic agents; Care and treatment; Corticosteroids; Genes; Genetic aspects; Investigations; Rheumatoid arthritis; Rheumatoid factor; Steroids
• ISSN: 1309-0291; 1309-0283
• DOI: 10.5152/tjr.2011.031

Objectives: In this study, we investigated the association of the human glucocorticoid receptor gene (NR3C1) Bcl-1 CG polymorphism with clinical data and response to therapy among rheumatoid arthritis (RA) patients and healthy control subjects. Patients and methods: We performed PCR-RFLP (Polymerase chain reaction-restriction fragment length polymorphism) method for identifying restriction of the Bcl-1 fragment length polymorphisms in the intron 2 region of the NR3C1 gene in 65 patients with RA (47 females, 18 males) and 70 healthy control subjects (47 females, 23 males). Clinical parameters and demographic characteristics of the patients along with previous history of drug treatments were also recorded. In addition, patients' response to treatment was monitored with the visual analog scale (VAS), Disease Activity Scores 28 (DAS28) and Health Assessment Questionnaire (HAQ) scores. Results: T he g enotype f requencies o f t he N R3C1 B cl-1 polymorphism did not differ between the patients with RA and the controls. We detected a deviation from the Hardy- Weinberg equilibrium in the RA group for the alleles tested (Rap=0.044, Kp=0.554). However, there was no significant difference between genotypes regarding age, gender, disease duration, or clinical parameters such as DAS28 scores, VAS and HAQ values (p>0.05). Conclusion: Although the glucocorticoid receptor gene Bcl-1 polymorphism did not differ between the RA and control groups, we detected a deviation from the Hardy-Weinberg equilibrium in the RA group for the alleles tested. This indicates that the glucocorticoid receptor polymorphism, namely Bcl-1CG, may play a role in the ethiopathogenesis of RA and the treatment response with glucocorticoids. Key words: Glucocorticoid; polymorphism; rheumatoid arthritis. Amac: Bu calismada romatoid artritli (RA) hastalarda ve saglikl? kontrol deneklerinde insan glukokortikoid reseptor genindeki (NR3C1) Bcl 1-CG polimorfizminin klinik veriler ve tedaviye yanitla iliskisi arastirildi. Hastalar ve yontemler: Bu calismada 6 5 R A'li hasta (47 kadin, 18 erkek) ve 70 saglikl? kontrol deneginde (47 kadin, 23 erkek) PCR-RFLP (Polimeraz zincir reaksiyonurestriksiyon parca uzunluk polimorfizmi) yontemiyle NR3C1 geni intron 2 bolgesindeki Bcl I parca uzunluk polimorfizmleri calis?ldi. Hastalarin onceki ilac oykusu ile birlikte klinik parametreleri ve demografik ozellikleri de kaydedildi. Ek olarak hastalarda tedaviye yanit gorsel analog olcegi (GAO), Hastalik Aktivitesi Skoru (DAS28) ve Hastalik Degerlendirme Anketi (SDA) skorlariyla izlendi. Bulgular: NR3C1 Bcl I polimorfizmi genotip frekanslar? RA'l? hastalarla kontroller arasinda farklilik gostermedi. Romatoid artrit grubunda test edilen alellerde Hardy- Weinberg esitliginden bir sapma oldugu tespit edildi (Rap=0.044, Kp=0.554). Bununla birlikte genotipler arasinda yas, cinsiyet, hastalik suresi ve GAO, DAS28 ve SDA gibi klinik parametreler acisindan fark saptanmad? (p>0.05). Sonuc: Glukokortikoid reseptoru geni Bcl I polimorfizmi RA ve kontrol grubu arasinda farklilik gostermese de RA grubunda test edilen alellerde Hardy-Weinberg esitliginden bir sapma tespit edildi. Bu durum glukokortikoid reseptoru geni polimorfizmi Bcl I-CG'nin RA etyopatogenezinde ve glukokortikoidlerle uygulanan tedaviye gelisen yanitta rol oynayabilecegini gostermektedir. Anahtar sozcukler: Glukokortikoid; polimorfizm; romatoid artrit.