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Common Mediterranean fever (MEFV) gene mutations associated with ankylosing spondylitis in Turkish population.
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MedLine Citation:
PMID:  22960328     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations (M694V, M680I, V726A, E148Q and P369S) in a cohort of Turkish patients with AS. Genomic DNAs of 103 AS patients and 120 controls were isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. There was a statistically significant difference of the MEFV gene mutation carrier rates between AS patients and healthy controls (p=0.004, OR: 2.5, 95% CI: 1.32-4.76). This association was also observed in allele frequencies (p=0.005, OR: 2.3, 95% CI: 1.27-4.2). A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% , p=0.060). There were no significant differences between MEFV mutation carriers and non-carriers with respect to the clinical and demographic characteristics. The results of this study suggest that MEFV gene mutations are positively associated with a predisposition to develop AS.
Authors:
Serbulent Yigit; Ahmet Inanir; Nevin Karakus; Esra Kesici; Nihan Bozkurt
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Disease markers     Volume:  33     ISSN:  1875-8630     ISO Abbreviation:  Dis. Markers     Publication Date:  2012  
Date Detail:
Created Date:  2012-10-01     Completed Date:  2013-01-29     Revised Date:  2013-12-11    
Medline Journal Info:
Nlm Unique ID:  8604127     Medline TA:  Dis Markers     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  113-8     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Case-Control Studies
Cytoskeletal Proteins / genetics*
Female
Gene Frequency
Genetic Predisposition to Disease
Genome, Human
Heterozygote
Humans
Male
Middle Aged
Mutation, Missense*
Polymorphism, Restriction Fragment Length
Spondylitis, Ankylosing / epidemiology,  genetics*
Turkey / epidemiology
Chemical
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/marenostrin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Full Text
Journal Information
Journal ID (nlm-ta): Dis Markers
Journal ID (iso-abbrev): Dis. Markers
Journal ID (publisher-id): DM
ISSN: 0278-0240
ISSN: 1875-8630
Publisher: IOS Press
Article Information
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Copyright © 2012 Hindawi Publishing Corporation.
Received Day: 16 Month: 7 Year: 2012
Accepted Day: 16 Month: 7 Year: 2012
Print publication date: Year: 2012
Electronic publication date: Day: 28 Month: 9 Year: 2012
Volume: 33 Issue: 3
First Page: 113 Last Page: 118
PubMed Id: 22960328
ID: 3810788
Article Id: 890214
DOI: 10.3233/DMA-2012-0911

Common Mediterranean Fever (MEFV) Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population
Serbulent Yigit1
Ahmet Inanir2
Nevin Karakus13*
Esra Kesici2
Nihan Bozkurt1
1Department of Medical BiologyFaculty of MedicineGaziosmanpasa UniversityTokatTurkey
2Department of Physical therapy and RehabilitationFaculty of MedicineGaziosmanpasa UniversityTokatTurkey
3Department of Medical BiologyFaculty of MedicineOndokuz Mayis UniversitySamsunTurkey
Correspondence: *Nevin Karakus: nevinbalci@hotmail.com


Article Categories:
  • Other

Keywords: Ankylosing spondylitis, MEFV gene, mutation, inflammatory rheumatic disease.

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