MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Yüksel MARAŞ; Ali AKDOĞAN; Bünyamin KISACIK; Levent KILIÇ; Engin YILMAZ; Abdurrahman TUFAN; Umut KALYONCU; Şaziye Şule APRAŞ BİLGEN; Sedat KİRAZ; Ali İhsan ERTENLİ; Meral ÇALGÜNERİ

Makale detayları

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Yazarlar:

Yüksel MARAŞ | Ali AKDOĞAN | Bünyamin KISACIK | Levent KILIÇ | Engin YILMAZ | Abdurrahman TUFAN | Umut KALYONCU | Şaziye Şule APRAŞ BİLGEN | Sedat KİRAZ | Ali İhsan ERTENLİ | Meral ÇALGÜNERİ

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2014 Vol.44 Issue 2, pp.203-207

Belge Tipi:

Makale

Yayın Tarihi:

5/2014

Belge Dili:

Türkçe

Document ID (Org No.):

2000753307

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Anahtar kelimeler:

Özet:

 

To define the frequency of familial Mediterranean fever gene (MEFV) mutations in ankylosing spondylitis (AS) and describe different clinical aspects of MEFV mutation carrier and noncarrier AS patients.   Materials and methods: In 112 AS patients, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calculated. The frequencies of 12 different MEFV mutations were studied by multiplex polymerase chain reaction/reverse hybridization method and were compared to those of previously studied healthy controls for 5 common MEFV mutations.    Results: MEFV mutations were identified in 46 of 224 (20%) alleles and in 39 (35%) of AS patients. The distribution of mutations was: M694V, 30% (14); E148Q, 30% (14); P369S, 17% (8); V726A, 13% (6); A744S, 8% (4); and K695R, 2% (1). There were no significant differences between MEFV mutation carriers and noncarriers with respect to sex, age of symptom onset, disease duration, peripheral joint involvement, acute phase reactant levels, and BASDAI and BASFI scores (P > 0.05 all). MEFV mutation allelic frequency was not different between AS patients and healthy controls after adjusting for mutations studied (34/224 versus 22/200; P > 0.05).   Conclusion: Although we did not find significant clinical and laboratory differences between MEFV mutation carrier and noncarrier AS patients, further investigations are needed to define the impact of MEFV mutations on AS disease course.

 

To define the frequency of familial Mediterranean fever gene (MEFV) mutations in ankylosing spondylitis (AS) and describe different clinical aspects of MEFV mutation carrier and noncarrier AS patients.   Materials and methods: In 112 AS patients, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calculated. The frequencies of 12 different MEFV mutations were studied by multiplex polymerase chain reaction/reverse hybridization method and were compared to those of previously studied healthy controls for 5 common MEFV mutations.    Results: MEFV mutations were identified in 46 of 224 (20%) alleles and in 39 (35%) of AS patients. The distribution of mutations was: M694V, 30% (14); E148Q, 30% (14); P369S, 17% (8); V726A, 13% (6); A744S, 8% (4); and K695R, 2% (1). There were no significant differences between MEFV mutation carriers and noncarriers with respect to sex, age of symptom onset, disease duration, peripheral joint involvement, acute phase reactant levels, and BASDAI and BASFI scores (P > 0.05 all). MEFV mutation allelic frequency was not different between AS patients and healthy controls after adjusting for mutations studied (34/224 versus 22/200; P > 0.05).   Conclusion: Although we did not find significant clinical and laboratory differences between MEFV mutation carrier and noncarrier AS patients, further investigations are needed to define the impact of MEFV mutations on AS disease course.

Makale detayları

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Yazarlar:

Yüksel MARAŞ | Ali AKDOĞAN | Bünyamin KISACIK | Levent KILIÇ | Engin YILMAZ | Abdurrahman TUFAN | Umut KALYONCU | Şaziye Şule APRAŞ BİLGEN | Sedat KİRAZ | Ali İhsan ERTENLİ | Meral ÇALGÜNERİ

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2014 Vol.44 Issue 2, pp.203-207

Belge Tipi:

Makale

Yayın Tarihi:

5/2014

Belge Dili:

Türkçe

Document ID (Org No.):

2000753307

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144

Key words: Familial Mediterranean fever

ankylosing spondylitis

familial Mediterranean fever gene

seronegative spondyloarthropathy

Sayı

Makale detayları

MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Yazarlar: Yüksel MARAŞ | Ali AKDOĞAN | Bünyamin KISACIK | Levent KILIÇ | Engin YILMAZ | Abdurrahman TUFAN | Umut KALYONCU | Şaziye Şule APRAŞ BİLGEN | Sedat KİRAZ | Ali İhsan ERTENLİ | Meral ÇALGÜNERİ

Yayıncı: TUBITAK

Dergi: Turkish Journal of Medical Sciences 2014 Vol.44 Issue 2, pp.203-207

Belge Tipi: Makale

Yayın Tarihi: 5/2014

Belge Dili: Türkçe

Document ID (Org No.): 2000753307

Sıklık: İki Aylık

eISSN: 1303-6165

pISSN: 1300-0144

Key words: Familial Mediterranean fever

ankylosing spondylitis

familial Mediterranean fever gene

seronegative spondyloarthropathy

Sayı

Yazarlar:

Yüksel MARAŞ | Ali AKDOĞAN | Bünyamin KISACIK | Levent KILIÇ | Engin YILMAZ | Abdurrahman TUFAN | Umut KALYONCU | Şaziye Şule APRAŞ BİLGEN | Sedat KİRAZ | Ali İhsan ERTENLİ | Meral ÇALGÜNERİ

Yayıncı:

TUBITAK

Dergi:

Turkish Journal of Medical Sciences 2014 Vol.44 Issue 2, pp.203-207

Belge Tipi:

Makale

Yayın Tarihi:

5/2014

Belge Dili:

Türkçe

Document ID (Org No.):

2000753307

Sıklık:

İki Aylık

eISSN:

1303-6165

pISSN:

1300-0144