Türk Toplumunda MTHFR A1298C Polimorfizmi ile Oral Sküamoz Hücre Karsinom Gelişim Riski Arasındaki İlişkinin Araştırılması

DOI: 10.26650/experimed.2019.19009Amaç: Düşük yaşam süresi ile karakterize olan ve çevresel faktörlerin yanı sıra genetik ve epigenetik değişimlerin katkılarının bulunduğu oral sküamoz hücre karsinomu (OSHK) gün geçtikçe yükselen insidansıyla dikkati çekmektedir. Günümüze kadar, folat metabolizmasının önemli enzimlerinden biri olan ve dolayısıyla DNA sentezi, metilasyonu ve tamir mekanizmalarında rol oynayan metilen tetrahidrofolat redüktaz (MTHFR) enzimine ait genetik varyantlar ile kanser yatkınlığı arasındaki ilişkinin araştırıldığı birçok çalışma yapılmıştır. Çalışmamızda, Türk popülasyonundaki MTHFR A1298C varyantları ile alkol ve/veya sigara kullanımı, cinsiyet, yaş veya klinik parametreler esasında oral sküamoz hücre karsinomu gelişim riskinin araştırılması hedeflenmiştir. Gereç ve Yöntem: MTHFR varyantları PCR-RFLP yöntemleri kullanılarak aynı yaş grubundaki 107 hasta ile 107 sağlıklı bireyde analiz edilmiştir. Bulgular: Hasta ve kontrol grubu arasında MTHFR A1298C genotip ve allel dağılımı bakımdan anlamlı bir fark elde edilmemiştir. Sigara-içmeyen hastalarda, A1298 allel frekansı mutant allele göre yüksek olup, bu alleli taşıyanlarda tümör çapının 4cm’den büyük olduğu ve bu tümörlerin orta veya iyi diferansiasyona sahip olduğu tespit edilmiştir. Ancak bu durum sigara içen hastalarda tespit edilmemiştir. Sonuç: Çalışmamız sonucunda MTHFR A1298C polimorfizminin hastalık gelişiminde bir risk faktörü olmadığı, ancak hastalığın prognozunda özellikte mutant varyantın etkili olabileceği kanaatine varılmıştır.Cite this article as: Küçükhüseyin Ö, Kayhan KB, Ünür M, Yılmaz Aydoğan H. Investigation Between MTHFR A1298C polymorphism and Oral Squamous Cell Carcinoma Risk in Turkish Population. Experimed 2019; 9(2): 44-52.

Investigation Between MTHFR A1298C polymorphism and Oral Squamous Cell Carcinoma Risk in Turkish Population

DOI: 10.26650/experimed.2019.19009Objective: Oral squamous cell carcinoma (OSCC) with its poor survival rates and rising number of incidences arises through several etiological factors including environmental, genetic and epigenetic alterations. Several studies have established an association between cancer susceptibility and polymorphisms of methylenetetrahydrofolate reductase (MTHFR), the key enzyme involved in folate metabolism and, therefore in DNA synthesis, methylation and repair. The aim of the present study was to establish any association between MTHFR A1298C variants and alcohol and/or tobacco consumption, gender or age in respect to clinical histopathological parameters, and the risk of OSCC development in the Turkish population. Material and Method: MTHFR A1298C genotyping in 107 OSCC patients and 107 cancer-free healthy controls was performed using the PCR-RFLP method. Results: The study groups were age-matched with higher frequencies in the male gender. In the patients group, the distribution of MTHFR A1298C variants was not significant. Smoking was not found to be a risk factor: in non-smokers the frequency of the MTHFR A1298 allele was higher than the 1298C allele, and the A1298 allele carriers possessed moderately or well differentiated tumors with a diameter of <4 cm. However, these associations were not detected in smokers. Conclusion: The present study alone did not demonstrate any association between the MTHFR A1298C polymorphism and the risk of OSCC in the Turkish population, however the prognosis of OSCC may be influenced by MTHFR A1298C variants.Cite this article as: Küçükhüseyin Ö, Kayhan KB, Ünür M, Yılmaz Aydoğan H. Investigation Between MTHFR A1298C polymorphism and Oral Squamous Cell Carcinoma Risk in Turkish Population. Experimed 2019; 9(2): 44-52.

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