The Role of Mediterranean Fever Mutation in the Clinical Course and Pathogenesis of Ankylosing Spondylitis
| Autor: | Hatice Rana Erdem, Aynur Karagöz, Baris Nacir, Ali Erhan Özdemirel |
|---|---|
| Přispěvatelé: | Kırşehir Ahi Evran Üniversitesi, Kırşehir Ahi Evran Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri, Fiziksel Tıp ve Rehabilitasyon ABD |
| Rok vydání: | 2015 |
| Předmět: |
Mutation
Ankylosing spondylitis medicine.medical_specialty Pathology business.industry Familial Mediterranean fever Heterozygote advantage Gene mutation medicine.disease_cause medicine.disease MEFV Gastroenterology Pathogenesis Rheumatology Mediterranean fever gene mutations Internal medicine medicine Allele Romatoloji business Ankylosing spondilitis |
| Zdroj: | Archives of Rheumatology. 30:181-190 |
| ISSN: | 2148-5046 |
| DOI: | 10.5606/archrheumatol.2015.5480 |
| Popis: | Objectives: This study aims to investigate the role of Mediterranean fever (MEFV) gene mutations in the pathogenesis and clinical progression of disease in ankylosing spondylitis patients. Patients and methods: The study included 88 patients (60 males, 28 females; mean age 38.7±8.7 years; range 19 to 56 years) diagnosed with ankylosing spondylitis according to modified New York criteria. The patients were evaluated for peripheral joint and hip joint involvement and treatment characteristics. Using multiplex/polymerase chain reaction reverse hybridization method, the presence of 12 different MEFV mutations was investigated. Results: Of 29 patients, heterozygote mutation was detected in 24 (83%), mutations in both alleles were detected in three (10%), and combined heterozygote mutations were detected in two patients (7%). Three most common mutations were M694V (11.3%), E148Q (8%), and V726A (4.5%). In the group with mutations, symptoms had started earlier than in the other group, and the number of peripheral joints involved was higher. When both characteristics were compared with the characteristics of the group that did not have any gene mutations, the differences were statistically significant (p |
| Databáze: | OpenAIRE |
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