MEFV gene is a probable susceptibility gene for Behcet's disease

Objective: Behcet's disease ( BD) is a rare, chronic, multisystem inflammatory disorder. The prevalence of BD is higher in the Middle Eastern and Mediterranean populations. Another chronic inflammatory disease, familial Mediterranean fever (FMF), is also known to be highly prevalent in these populations. The prevalence of BD is higher in the FMF patient population than in populations known to be rich in BD. Both BD and FMF have some pathophysiological features in common and they result from inappropriate activation of neutrophils. Clinical manifestations of both diseases can mimic each other and the coexistence of both diseases in the same patient has been reported. Given that BD and FMF have similar pathophysiological, epidemiological, and clinical features, we hypothesized that the gene responsible for FMF, MEFV, may also play a role in the pathogenesis of BD. Methods: Forty-two BD patients who had no symptoms and family history for FMF and 66 healthy controls were screened for common MEFV gene mutations (E148Q, M680I, M694V, and V726A). Results: Fifteen patients (36%) displayed MEFV mutations ( nine M694V, five E148Q, and one M680I) and mutation rates were significantly elevated compared to 66 (11%) healthy controls (p=0.0034). Conclusion: The occurrence of frequent MEFV mutations in BD patients suggests that the MEFV gene is involved in the pathogenesis of Behcet's disease.

Yazar Imirzalioglu, N
Dursun, A
Tastan, B
Soysal, Y
Yakicier, MC
Yayın Türü Article
Tek Biçim Adres https://hdl.handle.net/20.500.12628/2926
Tek Biçim Adres 10.1080/03009740510017931
Koleksiyonlar Araştırma Çıktıları | WoS | Scopus | TR-Dizin | PubMed | SOBİAD
PubMed İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu
Dergi Adı SCANDINAVIAN JOURNAL OF RHEUMATOLOGY
Dergi Cilt Bilgisi 34
Dergi Sayısı 1
Sayfalar 56 - 58
Yayın Yılı 2005
Eser Adı
[dc.title]
MEFV gene is a probable susceptibility gene for Behcet's disease
Yazar
[dc.contributor.author]
Imirzalioglu, N
Yazar
[dc.contributor.author]
Dursun, A
Yazar
[dc.contributor.author]
Tastan, B
Yazar
[dc.contributor.author]
Soysal, Y
Yazar
[dc.contributor.author]
Yakicier, MC
Yayın Yılı
[dc.date.issued]
2005
Yayıncı
[dc.publisher]
TAYLOR & FRANCIS LTD
Yayın Türü
[dc.type]
article
Özet
[dc.description.abstract]
Objective: Behcet's disease ( BD) is a rare, chronic, multisystem inflammatory disorder. The prevalence of BD is higher in the Middle Eastern and Mediterranean populations. Another chronic inflammatory disease, familial Mediterranean fever (FMF), is also known to be highly prevalent in these populations. The prevalence of BD is higher in the FMF patient population than in populations known to be rich in BD. Both BD and FMF have some pathophysiological features in common and they result from inappropriate activation of neutrophils. Clinical manifestations of both diseases can mimic each other and the coexistence of both diseases in the same patient has been reported. Given that BD and FMF have similar pathophysiological, epidemiological, and clinical features, we hypothesized that the gene responsible for FMF, MEFV, may also play a role in the pathogenesis of BD. Methods: Forty-two BD patients who had no symptoms and family history for FMF and 66 healthy controls were screened for common MEFV gene mutations (E148Q, M680I, M694V, and V726A). Results: Fifteen patients (36%) displayed MEFV mutations ( nine M694V, five E148Q, and one M680I) and mutation rates were significantly elevated compared to 66 (11%) healthy controls (p=0.0034). Conclusion: The occurrence of frequent MEFV mutations in BD patients suggests that the MEFV gene is involved in the pathogenesis of Behcet's disease.
Açıklama
[dc.description]
WOS: 000227528800010
Açıklama
[dc.description]
PubMed: 15903027
Kayıt Giriş Tarihi
[dc.date.accessioned]
2019-12-23
Açık Erişim Tarihi
[dc.date.available]
2019-12-23
Yayın Dili
[dc.language.iso]
eng
Haklar
[dc.rights]
info:eu-repo/semantics/closedAccess
ISSN
[dc.identifier.issn]
0300-9742
ISSN
[dc.identifier.issn]
1502-7732
İlk Sayfa Sayısı
[dc.identifier.startpage]
56
Son Sayfa Sayısı
[dc.identifier.endpage]
58
Dergi Adı
[dc.relation.journal]
SCANDINAVIAN JOURNAL OF RHEUMATOLOGY
Dergi Sayısı
[dc.identifier.issue]
1
Dergi Cilt Bilgisi
[dc.identifier.volume]
34
Tek Biçim Adres
[dc.identifier.uri]
https://dx.doi.org/10.1080/03009740510017931
Tek Biçim Adres
[dc.identifier.uri]
https://hdl.handle.net/20.500.12628/2926
Görüntülenme Sayısı ( Şehir )
Görüntülenme Sayısı ( Ülke )
Görüntülenme Sayısı ( Zaman Dağılımı )
Görüntülenme
102
09.12.2022 tarihinden bu yana
İndirme
1
09.12.2022 tarihinden bu yana
Son Erişim Tarihi
11 Haziran 2024 17:27
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Tıklayınız
patients populations disease mutations features pathophysiological patient common healthy controls pathogenesis Mediterranean diseases higher prevalence inflammatory chronic Behcet screened history family symptoms Forty-two Methods (E148Q Objective significantly involved suggests frequent occurrence Conclusion compared elevated V726A)
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