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

Year 2019, Volume: 9 Issue: 2, 44 - 52, 01.08.2019

Özlem Küçükhüseyin Kıvanç Bektaş Kayhan , Meral Ünür Hülya Yılmaz Aydoğan

Abstract

DOI: 10.26650/experimed.2019.19009

Objective: 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.

Keywords

OSCC, MTHFR, polymorphism, gene, oral cancer

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

Abstract

DOI: 10.26650/experimed.2019.19009

Amaç: 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.

Keywords

OSCC, MTHFR, polymorphism, gene, oral cancer

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