Comparison of FMF Gene Mutations in Our Region with World Distribution

Year 2024, Volume: 19 Issue: 2, 15 - 20

Doğu Karahan

https://doi.org/10.17517/ksutfd.1279728

Abstract

Objective: Although Familial Mediterranean Fever (FMF) is endemic, especially in the Eastern Mediterranean basin societies, it has recently been detected in different countries in the world with social migrations. This study, it is aimed to compare the genetic mutations that are seen frequently in Turkey with the mutations in different populations.
Material and Methods: The genetic mutation test results of 192 FMF patients were screened retrospectively, mutations were detected and their frequencies were calculated. The detected mutations were evaluated by comparing them with previous studies conducted in Turkey and other populations.
Results: In our study, the most common mutations were M694V (29.68%), G148G (17.18%), M680I (12.5%), and V726A (10.93%). It was determined that A202 genetic variation was the most common variable with 58.85%. While the results were similar to the results of most other studies in Turkey, it was observed that the frequency of mutations changed in different populations.
Conclusion: FMF is endemic in the Eastern Mediterranean basin, less frequently in other parts of the Mediterranean. In addition, it has been detected more frequently in distant regions of the world in recent years. Social migrations and genetic transmission are held responsible for this increase. The frequency of mutations seen in different societies also varies, and this gives an idea about the genetic origin of the migration to those regions. Considering that mass migration has increased recently, the importance of FMF disease and mutation distribution in the world seems to increase in the future.

Keywords

FMF, genetic, mediterrenian, mutation, transmission

Bölgemizdeki FMF Gen Mutasyonlarının Dünya’daki Dağılım ile Karşılaştırılması

Abstract

Amaç: Ailevi Akdeniz Ateşi (FMF), özellikle Doğu Akdeniz havzası toplumlarında endemik olmakla birlikte toplumsal göçlerle birlikte dünyada farklı ülkelerde de son dönemlerde tespit edilmektedir. Bu çalışmada Türkiye‘de sık görülen genetik mutasyonlar ile farklı toplumlardaki mutasyonların karşılaştırması amaçlanmıştır.
Gereç ve Yöntemler: 192 FMF hastasının genetik mutasyon test sonuçları retrospektif olarak taranarak mutasyonlar tespit edildi ve sıklıkları hesaplandı. Tespit edilen mutasyonlar Türkiye’de ve diğer toplumlarda yapılmış olan önceki çalışmalar ile karşılaştırılarak değerlendirildi.
Bulgular: Çalışmamızda en sık mutasyonların M694V (%29.68), G148G (%17.18), M680I (%12.5) ve V726A (%10.93) olduğu görüldü. A202 genetik varyasyonun %58.85 ile görülen en sık değişken olduğu saptandı. Sonuçlar sıklık açısından Türkiye’deki diğer çoğu çalışmanın sonuçları ile benzer iken farklı toplumlarda mutasyon sıklığının değiştiği gözlemlendi.
Sonuç: FMF Doğu Akdeniz havzasında endemik olarak görülmekte, Akdeniz’in diğer bölgelerinde daha az sıklıkla görülmektedir. Ayrıca dünyada uzak bölgelerde de son dönemlerde daha sıklıkla saptanmaktadır. Toplumsal göçler ve genetik transmisyon bu artıştan sorumlu tutulmaktadır. Farklı toplumlarda görülen mutasyonların sıklığı da değişkenlik göstermekte olup bu durum o bölgelere olan göçün genetik kökeni açısından da fikir vermektedir. Son dönemlerde kitlesel göçlerin arttığı düşünüldüğünde dünyada FMF hastalığı ve mutasyon dağılımının önemi artacak gibi görünmektedir.

Keywords

akdeniz, FMF, genetik, mutasyon, transmisyon

Supporting Institution

yok

References

• Tokgün O, Türel S, Tokgün PE, Durak T, Karagenç N, Demiray A, et al. Comparative analysis of MEFV mutations in patients with familial Mediterranean fever by real-time polymerase chain reaction and next generation sequencing-single center experience. Pamukkale Medical Journal 2021;14:638-644.
• Yildirim ME, Kurtulgan HK, Ozdemir O, Kilicgun H, Aydemir DS, Baser B, et al. Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia. Ann Saudi Med 2019; 39:382-387.
• Erden G, Bal C, Torun OG, Uğuz N, Yıldırımkaya MM. Evaluating the Frequency of MEFV Gene in a Group of Patients with a Pre-diagnosis of Familiar Mediterranean Fever. Türk Hijyen ve Deneysel Biyoloji Dergisi 2008;65:1-5.
• Accetturo M, D’Uggento AM, Portincasa P, Stella A. Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever. Rheumatology 2020;59:754–761.
• Shohat M, Halpern GJ. Familial Mediterranean fever--a review. Genet Med 2011; 13: 487-498.
• Kucuksahin O, Yildizgoren MT, Ilgen U, Ates A, Kinikli G, Turgay M, et al. Anti-interleukin-1 treatment in 26 patients with refractory familial mediterranean fever. Mod Rheumatol 2017;27:350-355.
• Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine 2005;84:1-11.
• Ben-Chetrit E, Touitou I. Familial mediterranean Fever in the world. Arthritis Rheum 2009; 61: 1447-1453.
• Deltas CC, Mean R, Rossou E, Costi C, Koupepidou P, Hadjiyanni I, et al. Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus. Genet Test 2002;6:15-21.
• Pagava K, Rauscher B, Korinteli IA, Shonvadze D, Kriegshauser G, Oberkanins Ch.. Familial Mediterranean fever in Georgia. Georgian Med News 2014;79-82.
• Talaat HS, Sheba MF, Mohammed RH, Gomaa MA, Rifaei NE, Ibrahim MFM. Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine. Mediterr J Rheumatol 2020 15;31:206-213.
• Mansour AR, El-Shayeb A, El Habachi N, Khodair MA, Elwazzan D, Abdeen N, et al. Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study. Int J Inflam 2019; 2578760.
• Giaglis S, Papadopoulos V, Kambas K, Doumas M, Tsironidou V, Rafail S, et al. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever. Clin Genet 2007;71:458-467.
• La Regina M, Nucera G, Diaco M, Procopio A, Gasbarrini G, Notarnicola C, et al. Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 2003;11:50-56.
• Bonfrate L, Scaccianoce G, Palasciano G, Ben-Chetrit E, Portincasa P. A novel cluster of patients with Familial Mediterranean Fever (FMF) in southern Italy. Eur J Clin Invest 2017;47:622-629.
• Aldea A, Calafell F, Aróstegui JI, Lao O, Rius J, Plaza S, et al. The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus. Hum Mutat 2004;23:399.
• Migita K, Uehara R, Nakamura Y, Yasunami M, Tsuchiya-Suzuki A, Yazaki M et al. Familial Mediterranean fever in Japan. Medicine 2012;91:337-343.
• Migita K, Izumi Y, Jiuchi Y, Iwanaga N, Kawahara C, Agematsu K et al. Familial Mediterranean fever is no longer a rare disease in Japan. Arthritis Res Ther 2016;18:175.
• Wekell P, Karlsson A, Fasth A, Berg S. Familjär medelhavsfeber - viktig sjukdom i en globaliserad värld - Särskilt vanlig hos personer från östra Medelhavsområdet [Familial Mediterranean fever – an important disease in a globalised world]. Lakartidningen 2016;113.
• Dallos T, Gálová LL, Macejková E, Sedlačko J, Toplak N, Debeljak M, et al. Familiárna stredomorská horúčka - prvé skúsenosti na Slovensku [Familial Mediterranean fever - first experiences in Slovakia]. Vnitr Lek 2014;60:80-85.
• Arpacı A, Doğan S, Erdoğan HF, El Ç, Cura SE. Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings. Mol Biol Rep 2021;48:2025-2033.