BibTex RIS Cite

Determining MEFV gene mutations and relationships with disease activity in patients with ankylosing spondylitis

Year 2015, Volume: 37 Issue: 4, 244 - 249, 13.12.2015
https://doi.org/10.7197/cmj.v37i4.5000129534

Abstract

SUMMARY

Objective: The aim of this study is to assess presence of MEFV (MEditerranean FeVer) gene mutations and relationship between those mutations and disease activity in ankylosing spondylitis (AS).

Method: Study group was consisted of 34 patients with AS, and 35 healthy volunteers enrolled to study as control group. 12 MEFV gene mutations were screened by Stripe-Assay technique. Patients with AS were divided into 2 subgroups according to whether they are MEFV gene positive or negative. Demographic data of study group were questioned. Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath Ankylosing Spondylitis Functional Index (BASFI) and The Bath Ankylosing Spondylitis Metrology Index (BASMI), peripheral joint involvement, and drug use were used as clinical parameters; Visual Analog Scale (VAS) was used to assess pain, and erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were assessed as laboratory parameters.

Results: Among 34 patients with AS, it was found that 5 patients (35.7%) were positive for E148Q, 2 patients (14.2%) for M694V, 2 patients (14.2%) for A744S, 2 patients (14.2%) for V726A and 1 patient (7.1%) for each of the M680I, R761H, P369S. Among 35 individuals in control group, E148Q was detected in two (5.7%) and M694V was detected in another two (5.7%). When MEFV gene mutations were compared between study group and control group, there was no significant difference (p>0.05). There was significant difference between MEFV carriers and non-carriers regarding BASDAI, CRP and ESR values and positive family history whereas no difference was found in BASMI, BASFI, VAS, disease duration and biological agent use.

Conclusions: It was thought that MEFV mutation frequency in AS patients was similar with control group but disease should have more progressive course in MEFV positive AS patients. To address this issue, further studies with large series are needed.

Keywords: Anklyosing spondylitis, MEFV gene mutations, disease activity

ÖZET

Amaç: Ankilozan Spondilit (AS) hastalarında MEFV (MEditerranean FeVer) gen mutasyonlarının varlığını ve bunun hastalık aktivitesi ile olan ilişkisini değerlendirmektir.

Yöntem: AS tanısı olan 34 hasta ve 35 sağlıklı gönüllülerden oluşan kontrol gurubu alındı. Strip-assay tekniği ile 12 adet MEFV gen mutasyonuna bakıldı. AS hastaları MEFV mutasyonu pozitif ve negatif olarak iki gruba ayrıldı. Her iki grubun demografik verileri sorgulandı. Klinik parametre olarak, Bath Ankilozan Spondilit Hastalık Aktivite İndeksi (BASDAİ), Bath Ankilozan Spondilit Fonksiyonel İndeksi (BASFİ), Bath Ankilozan Spondilit Metroloji İndeksi (BASMİ), ağrı için Vizüel Analog Skala (VAS), periferik eklem tutulumu, ilaç kullanımı, labaratuvar olarak eritrosit sedimantayon hızı (ESH) ve C-Reaktif Protein (CRP) değerlendirildi.

Bulgular: AS’li 34 hastanın 7’sinde (%20,6) E148Q, 4’ünde (%11,8) M694V, 2’sinde (%5,9) A744S, 2’sinde (%5,9) V726A, 1’er hastada da (%2,9) M6801, R761H, P369S pozitif olarak bulundu. Kontrol grubundaki 35 bireyden 2’sinde (%5,7) E148Q, 2’sinde (%5,7) M694V tespit edildi. Hasta ve kontrol grubundaki MEFV mutasyonları karşılaştırıldığında farklılık önemsizdi (p>0,05). MEFV mutasyonu pozitif olan 14 AS’li hastanın 7’sinde (%50,0) E148Q, 4’ünde (%28,6) M694V tespit edilmiş olup bu oran istatiksel olarak anlamlı bulundu (p<0,05). MEFV mutasyonu taşıyan ve taşımayanlar arasında BASDAİ, CRP, ESH ve pozitif aile öyküsü anlamlı bulunurken, BASMİ, BASFİ, VAS, hastalık süresi, biyolojik ajan kullanımı açısından fark bulunamamıştır.

Sonuç: AS hastalarında MEFV mutasyon sıklığının kontrol grubu ile benzer olduğu fakat MEFV mutasyonu pozitif olan AS hastalarında hastalığın daha progresif seyredebileceği düşünülmektedir. Bununla ilgili daha çok olguyla yapılacak çalışmalara ihtiyaç vardır.

Anahtar sözcükler: Ankilozan spondilit, MEFV gen mutasyonları, hastalık aktivitesi

Year 2015, Volume: 37 Issue: 4, 244 - 249, 13.12.2015
https://doi.org/10.7197/cmj.v37i4.5000129534

Abstract

There are 0 citations in total.

Details

Journal Section Basic Science Research Articles
Authors

Sunay Kaya

Emrullah Hayta

Sami Hizmetli

Ahmet Karadağ

Publication Date December 13, 2015
Published in Issue Year 2015Volume: 37 Issue: 4

Cite

AMA Kaya S, Hayta E, Hizmetli S, Karadağ A. Determining MEFV gene mutations and relationships with disease activity in patients with ankylosing spondylitis. CMJ. December 2015;37(4):244-249. doi:10.7197/cmj.v37i4.5000129534