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Journals / Turkish Journal of Gastroenterology / 2004 / Cilt: 15 - Sayı: 4

İnflamatuvar barsak hastalıklarında Faktör V Leiden, protrombin G20210A ve MTFHR gen mutasyon prevelansı

Factor V Leiden, prothrombin G20210A and MTHFR gene mutations in inflammatory bowel disease

Murat TÖRÜNER
Özlem ERKAN
İrfan SOYKAN
Mithat BOZDAYI
Hülya ÇETİNKAYA
Cihan YURDAYDIN
Özden UZUNALİMOĞLU
Ali ÖZDEN
Pages
250–252
DOI
—
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AI Summary & Key Takeaways

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

Conclusions: Genetic mutations that could increase the thrombosis risk were not found to be different in IBD versus the normal population in our study.

📌 3 Key Takeaways

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Objective & Hypothesis:Background/aims: Thromboembolic events are more common in patients with inflammatory bowel disease than in the normal population; however, the reason for the increased prevalence is not clear.
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Key Findings & Data:The aim of this study was to evaluate the prevalence of factor V Leiden, prothrombin G20210A and methylene tetrahydrofolate reductase (MTHFR) gene mutations in IBD patients followed in our outpatient clinic.
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Conclusion & Impact:Conclusions: Genetic mutations that could increase the thrombosis risk were not found to be different in IBD versus the normal population in our study.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Enflamatuvar bağırsak hastalıkları · Nokta mutasyonu · Inflammatory Bowel Diseases

Abstract

Background/aims: Thromboembolic events are more common in patients with inflammatory bowel disease than in the normal population; however, the reason for the increased prevalence is not clear. The aim of this study was to evaluate the prevalence of factor V Leiden, prothrombin G20210A and methylene tetrahydrofolate reductase (MTHFR) gene mutations in IBD patients followed in our outpatient clinic. Methods: Thirty-four patients with ulcerative colitis and 28 patients with Crohn’s disease and 80 healthy controls were included in the study. No patient had a history of previous thromboembolism. Factor V Leiden, prothrombin G20210A and MTHFR gene mutations were studied. Results: Heterozygote factor V Leiden mutation was found in five (6.25%) control patients and in two (3.2%) IBD patients. Heterozygote MTHFR mutation was obtained in seven (11.3%) IBD patients and in five (6.25%) controls. Heterozygote prothrombin G20210A mutation was found in two (2.5%) and homozygote MTHFR mutation in one (1.25%) control patient. There was no statistical difference between the IBD group and healthy controls. Conclusions: Genetic mutations that could increase the thrombosis risk were not found to be different in IBD versus the normal population in our study.

Özet

Amaç: İnflammatuvar barsak hastalıklarında normal popülasyona oranla daha sık tromboembolik olaylara rastlanılmaktadır. Bu artmış sıklığın nedeni tam olarak açıklığa kavuşmamıştır. İnflamatuvar barsak hastalıkları polikliniğimizde takip edilen, daha önce tromboembolik olay hikayesi olmayan ulseratif kolit/Crohn hastalarında Faktör V Leiden, protrombin G20210A ve MTHFR mutasyonlarının görülme sıklığını ortaya koymaktadır. Yöntem: Çalışmaya 62 hasta dahil edildi (ülseratif kolit: 34, Crohn hastalığı: 28). Hastaların hiçbirisinde trombolik olay hikayesi mevcut değildi. Hastalardan alınan kan örneklerinde Faktör V Leiden, protrombin G20210A ve MTHFR mutasyonları çalışıldı. kontrol grubu olarak 80 adet sağlıklı kontrol hastası alındı ve aynı mutasyonlar bakıldı. Bulgular: Sağlıklı kontrol grubunda 5 hastada (%6.25) heterozigot olarak Faktör V Leiden mutasyonu, 2 hastada (%2.5) heterozigot olarak protrombin G20210A mutasyonu, 5 hastada (%6.25) heterozigot olarak MTHFR mutasyonu ve 1 hastada (%1.25) homozigot olarak MTHFR mutasyonu tespit edildi. Hasta grubunda ise 7 hastada (%11.3) heterozigot olarak MTHFR mutasyonu, 2 hastada (%3.2) ise heterozigot olarak Faktör V Leiden mutasyonu saptandı. hasta grubundaki ve sağlıklı kontrollerde görülen mutasyon sıklığı arasında bir farklılık yoktu. Sonuç: İnflamatuvar barsak hastalıklarında tromboz riskini arttıran genetik mutasyonların sıklığında normal populasyona göre bir artış söz konusu değildir.

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Cite This Article

TÖRÜNER, M., ERKAN, Ö., SOYKAN, İ., BOZDAYI, M., ÇETİNKAYA, H., YURDAYDIN, C., UZUNALİMOĞLU, Ö., ÖZDEN, A. (2004). İnflamatuvar barsak hastalıklarında Faktör V Leiden, protrombin G20210A ve MTFHR gen mutasyon prevelansı. Turkish Journal of Gastroenterology, Cilt: 15 - Sayı: 4, 250–252. https://ajindex.com/articles/410415

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