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Journals / Turkish Journal of Medical Sciences / 2016 / Cilt: 46 - Sayı: 4

MEFV mutations in Iranian Azari Turkish patients with Henoch?Schönlein purpura

Mortaza BONYADI
Mahdieh YOUNESI
Mandana RAFEEY
Mahnaz SADEGHI SHABESTARI
Fakhrossadat MORTAZAVI
Pages
967–971
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: Based on the results, MEFV mutations could be considered effective genetic factors for development of HSP in the Iranian Azari Turkish ethnic group.

📌 3 Key Takeaways

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Objective & Hypothesis:Background/aim: The aim of the current study was to screen the rate of MEFV mutations in Henoch Schönlein purpura (HSP) and to investigate the association of these mutations plus clinical symptoms with HSP disease in the Iranian Azari Turkish ethnic group.
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Key Findings & Data:Materials and methods: The study groups included 40 unrelated HSP patients and 200 apparently healthy people without any kind of inflammatory diseases as a control group.
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Conclusion & Impact:Conclusion: Based on the results, MEFV mutations could be considered effective genetic factors for development of HSP in the Iranian Azari Turkish ethnic group.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Background/aim: The aim of the current study was to screen the rate of MEFV mutations in Henoch Schönlein purpura (HSP) and to investigate the association of these mutations plus clinical symptoms with HSP disease in the Iranian Azari Turkish ethnic group. Materials and methods: The study groups included 40 unrelated HSP patients and 200 apparently healthy people without any kind of inflammatory diseases as a control group. Molecular screening was performed for eight main mutations, namely M694V, M694I, M680I, V726A, E148Q, R761H, P396S, and R408Q, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and sequencing. Results: Out of the 40 studied patients, 27 subjects (67.5%) did not show any mutation, whereas 10 patients (25%) were heterozygotes for one of the following mutations: M694V, M680I, V726A, E148Q. Moreover, three patients (7.5%) were compound heterozygotes for P369S and R408Q. The significant differences between the patient and control groups for M680I, V726A, E148Q, P396S, and R408Q were P = 0.0043, P = 0.0324, P = 0.0145, P = 0.0043, and P = 0.0043, respectively. Furthermore, no significant difference in clinical manifestations was observed between the two groups of patients with and without mutations. Conclusion: Based on the results, MEFV mutations could be considered effective genetic factors for development of HSP in the Iranian Azari Turkish ethnic group.

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Cite This Article

BONYADI, M., YOUNESI, M., RAFEEY, M., SHABESTARI, M. S., MORTAZAVI, F. (2022). MEFV mutations in Iranian Azari Turkish patients with Henoch?Schönlein purpura. Turkish Journal of Medical Sciences, Cilt: 46 - Sayı: 4, 967–971. https://ajindex.com/articles/610788

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References (13)

  1. Özçakar ZB, Yalçınkaya F, Çakar N, Acar B, Kasapçopur Ö, Ügüten D, Soy D, Kara N, Uncu N, Arısoy N et al. MEFV mutations modify the clinical presentation of HenochSchönlein purpura. J Rheumatol 2008; 35: 2427-2429
  2. He X, Lu H, Kang S, Luan J, Liu Z, Yin W, Yao H, Ding Y, Li T, Heng CK. MEFV E148Q polymorphism is associated with Henoch-Schönlein purpura in Chinese children. Pediatr Nephrol 2010; 25: 2077-2082
  3. Ertan P, Tekin G, Sahin GE, Kasirga E, Taneli F, Kandioglu AR, Sozeri B. A case of Henoch-Schönlein purpura with P369S mutation in MEFV gene. Iran J Pediatr 2011; 21: 244-248
  4. He X, Yu C, Zhao P, Ding Y, Liang X, Zhao Y, Yue X, Wu Y, Yin W. The genetics of Henoch-Schönlein purpura: a systematic review and meta-analysis. Rheumatol Int 2013; 33: 1387-1395
  5. Dogan CS, Akman S, Koyun M, Bilgen T, Comak E, Gokceoglu AU. Prevalence and significance of the MEFV gene mutations in childhood Henoch-Schönlein purpura without FMF symptoms. Rheumatol Int 2013; 33: 377-380
  6. Medlej-Hashim M, Rawashdeh M, Chouery E, Mansour I, Delague V, Lefranc G, Naman R, Loiselet J, Megarbane A. Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients. Hum Mutat 2000; 15: 384
  7. Miller SA, Dynes DD, Polesky F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215
  8. Bonyadi M, Esmaeili M, Jalali H, Somi MH, Ghaffari A, Rafeey M, Sakha K, Lotfalizadeh N, Pourhassan A, Khoshbaten M et al. MEFV mutations in Iranian Azari Turkish patients with familial Mediterranean fever. Clin Genet 2009; 76: 477-480
  9. Esmaeili M, Bonyadi M, Khabbazi A, Ebrahimi AA, Sharif SK, Hajialilo M, Kolahi S, Dastgiri S. Common MEFV mutations in Iranian Azari Turkish patients with Behçet’s disease. Scand J Rheumatol 2011; 40: 383-386
  10. Shaghaghi Z, Bonyadi M, Somi MH, Khoshbaten M. Association of plasminogen activator inhibitor-1 gene polymorphism with inflammatory bowel disease in Iranian Azari Turkish patients. Saudi J Gastroenterol 2014; 20: 54-58
  11. Gershoni-Baruch R, Broza Y, Brik R. Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura. J Pediatr 2003; 143: 658- 661
  12. Altug U, Ensari C, Sayin DB, Ensari A. MEFV gene mutations in Henoch-Schönlein purpura. Int J Rheu Dis 2013; 16: 347- 351
  13. Flatau E, Kohn D, Schiller D, Lurie M, Levy E. SchönleinHenoch syndrome in patients with familial Mediterranean fever. Arthritis Rheum 1982;