Volume 10, Issue 3 (10-2022)                   Jorjani Biomed J 2022, 10(3): 7-14 | Back to browse issues page

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Mohammadi-kebar Y, Hoseini-asl S, Azami A, Salehzadeh F, Sadeghian S. Common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q ) in patients with Behcet's disease in Ardabil. Jorjani Biomed J. 2022; 10 (3) :7-14
URL: http://goums.ac.ir/jorjanijournal/article-1-899-en.html
1- Department of Internal Medicine, School of Medicine, Ardabil University of Medical Science,Ardabil,Iran
2- Molecular-Genetic Laboratory, Imam Khomeini Hospital, Ardabil University of Medical Sciences, Ardabil, Iran.
3- Department of Internal Medicine, School of Medicine, Ardabil University of Medical Science,Ardabil,Iran , ahadazami45@gmail.com
4- Department of Pediatrics, School of Medicine, Ardabil University of Medical Science,Ardabil,Iran
5- School of Medicine, Ardabil University of Medical Science,Ardabil,Iran
Abstract:   (78 Views)
Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and performing a small number of studies about MEFV gene mutations in patients with BD, this study aimed to determine the frequency of MEFV gene mutations in Ardabil patients with BD.
Material and Methods: Fifty patients with BD were diagnosed according to the International Study Group criteria for BD (for oral pests, genital pests, and ocular lesions, 2 points each, skin symptoms, vascular symptoms, positive pathogenesis test, and neurological symptoms, 1 point each). A score of 4 or higher indicated BD. All patients were analyzed for five common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q) using amplification refractory mutation system and Polymerase Chain Reaction (PCR) restriction-digestion testing methods. A cohort of 224 healthy people who had been previously genotyped regarding the five common MEFV mutations served as the control group.
Results: The mean age of patients was 38.68±11 years. Most BD patients (56%) and 50.4% of the control group were women. Of all patients, 66% (33) mentioned that their parents had no family relationship. Among 50 patients with BD, 12 (24%) had mutations in the MEFV gene, of which seven patients (58.3%) had E148Q mutation. Among healthy individuals, 57 patients (25.4%) had mutations, of which 39 (68.4%) had E148Q mutation. The difference between the two groups was not significant.
Conclusion: Results showed that most patients with BD had mutations in the MEFV gene and the most common case was E148Q mutation which was similar to the healthy population in terms of BD agent.


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Type of Article: Original article | Subject: Basic Medical Sciences
Received: 2022/04/26 | Accepted: 2022/07/9 | Published: 2022/08/6

References
1. Abdolmohammadi R, Bonyadi M. Polymorphisms of Promoter Region of TNF-αGene in Iranian Azeri Turkish Patients with Behçet's Disease. Journal of Korean Medical Science. 2017;32(1):33-37. [view at publisher] [DOI] [PMID] [PMCID] [ISI]
2. Li L, Yu H, Jiang Y, Deng B, Bai L, Kijlstra A, Yang P. Corrigendum: Genetic Variations of NLR family genes in Behcet's Disease. Sci Rep. 2016 May 31;6:26423. doi: 10.1038/srep26423. Erratum for: Sci Rep. 2016 Feb 01;6:20098. [DOI] [PMID] [PMCID] [Google Scholar]
3. Mohammad A, Mandl T, Sturfelt G, Segelmark M. Incidence, prevalence and clinical characteristics of Behcet's disease in southern Sweden. Rheumatology (Oxford). 2013 Feb;52(2):304-10. [DOI] [PMID] [Google Scholar] [Google Scholar]
4. Pineton de Chambrun M, Wechsler B, Geri G, Cacoub P, Saadoun D. New insights into the pathogenesis of Behçet's disease. Autoimmun Rev. 2012 Aug;11(10):687-98. [view at publisher] [DOI] [PMID] [Google Scholar]
5. Yazici A, Cefle A, Savli H. The frequency of MEFV gene mutations in Behcet's disease and their relation with clinical findings. Rheumatol Int. 2012 Oct;32(10):3025-30. [DOI] [PMID] [Google Scholar]
6. Davatchi F, Chams-Davatchi C, Shams H, Nadji A, Faezi T, Akhlaghi M, Sadeghi Abdollahi B, Ashofteh F, Ghodsi Z, Mohtasham N, Shahram F. Adult Behcet's disease in Iran: analysis of 6075 patients. Int J Rheum Dis. 2016 Jan;19(1):95-103. [DOI] [PMID] [Google Scholar]
7. Mikhailik A, Ford B, Keller J, Chen Y, Nassar N, Carpino N. A phosphatase activity of Sts-1 contributes to the suppression of TCR signaling. Mol Cell. 2007 Aug 3;27(3):486-97. [DOI] [PMID] [PMCID] [Google Scholar]
8. Bonyadi M, Gholizadeh M, Soltan-Ali M. MDR1 C3435T polymorphism associated with the development of clinical features in Behçet's disease in Iranian Azeri Turkish patients. Int J Dermatol. 2014 Oct;53(10):1235-40. [DOI] [PMID] [Google Scholar]
9. Alibakhshi, R., Mohammadi, A., Ghadiri, K. et al. Spectrum of MEFV gene mutations in 4,256 familial Mediterranean fever patients from Iran: a comprehensive systematic review. Egypt J Med Hum Genet 23, 5 (2022). [DOI] [Google Scholar]
10. Sunar I, Sari Surmeli Z, Erhan Özdemirel A, Yalcin AP,Ataman SH. Coexistence of Familial Mediterranean Fever, Behçet's Disease and Sacroiliitis. Achieve of Rheumatology 2015;30:63-66. [DOI] [Google Scholar]
11. Esmaeili M, Bonyadi M, Khabbazi A, Ebrahimi AA, Sharif SK, Hajialilo M, Kolahi S, Dastgiri S. Common MEFV mutations in Iranian Azeri Turkish patients with Behçet's disease. Scand J Rheumatol. 2011;40(5):383-6. [DOI] [PMID] [Google Scholar]
12. Shahram F, Nadji A, Jamshidi AR, Chams H, Chams C, Shafaie N, et al. Behçet disease in Iran, analysis of 5059 cases. Arch Iran Med 2004;7:9-14. [Google Scholar]
13. Imirzalioglu N, Dursun A, Tastan B, Soysal Y, Yakicier MC. MEFV gene is a probable susceptibility gene for Behçet's disease. Scand J Rheumatol. 2005;34(1):56-8. [DOI] [PMID] [Google Scholar]
14. Çakır N, Azaklı H, Üstek D, Uysal Ö, Gözke E. MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean fever. Turk J Med Sci. 2021 Aug 30;51(4):1702-1705. [DOI] [PMID] [PMCID] [Google Scholar]
15. Tasliyurt T, Yigit S, Rustemoglu A, Gul U, Ates O. Common MEFV gene mutations in Turkish patients with Behcet's disease. Gene. 2013 Nov 1;530(1):100-3. [DOI] [PMID] [Google Scholar]
16. Salehzadeh F, Sharghi A, Motayayagheni A, Hosseini Asl S, Mottaghi M, Sarkhanloo S. MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea. Genet Res Int. 2019 Aug 18;2019:6418759. [DOI] [PMID] [PMCID] [Google Scholar]
17. Ebadi N, Shakoori A, Razipour M, Salmaninejad A, Zarifian Yeganeh R, Mehrabi S, Raeeskarami SR, Khaleghian M, Azhideh H. The spectrum of Familial Mediterranean Fever gene (MEFV) mutations and genotypes in Iran, and report of a novel missense variant (R204H). Eur J Med Genet. 2017 Dec;60(12):701-705. [DOI] [PMID] [Google Scholar]
18. Coşkun S, Varol S, Özdemir HH, Çelik SB, Balduz M, Camkurt MA, Çim A, Arslan D, Çevik MU. Association between sequence variations of the Mediterranean fever gene and the risk of migraine: a case-control study. Neuropsychiatr Dis Treat. 2016 Aug 29;12:2225-32. [DOI] [PMID] [PMCID] [Google Scholar]

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