Clinical Oral Investigations

, Volume 21, Issue 6, pp 1929–1934 | Cite as

Retrospective case-control study of correlation between MTHFR gene and OSCC risk in North India

  • Hena Naqvi
  • Mohammad Kaleem AhmadEmail author
  • Syed Rizwan Hussain
  • Shalini Gupta
  • Mohammad Waseem
  • Abbas Ali Mahdi
Original Article



Oral squamous cell carcinoma (OSCC) occurrence appears to be the number one among all cancers in India. Folate is a methyl donor during DNA methylation, as it provides substrate for methylenetetrahydrofolate reductase (MTHFR) to convert 5,10-MTHF to 5-MTHF and subsequently metabolizes it to methionine. The purpose of this study was to identify MTHFR C677T gene polymorphism in patients with OSCC.

Materials and methods

A total of 350 OSCC cases and 350 healthy controls participated in this study. MTHFR C677T single-nucleotide polymorphism was evaluated by PCR-RFLP.


In the present study, MTHFR gene 677CC, CT, and TT genotype frequencies of the total OSCC cases were 74.8; 19.4 and 5.71; and 88.5, 9.42, and 2.0 % in controls. The average frequency of the MTHFR 677T allele was 15.4 % in OSCC cases compared to 6.71 % in the controls. The CT genotype occurrence prevailed more in patients than controls in contrast to TT genotype, although both the genotypes were statistically significant for OSCC. Moreover, we found that T allele was significant in cases of smoking and tobacco chewing.


In this study, we found that the homozygous mutant T allele appeared to have significantly higher risk of OSCC especially in late stages and therefore supporting in OSCC susceptibility and its progression.


MTHFR PCR-RFLP OSCC Genetic polymorphism C677T 



This study was supported by the Department of Biochemistry, King George’s Medical University, Lucknow, Uttar Pradesh, India.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


This study was not funded.

Ethical approval

The study was approved by the institutional ethical committee. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

The study was approved by the institutional ethical committee. All participants under study signed a detailed informed consent form.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Hena Naqvi
    • 1
  • Mohammad Kaleem Ahmad
    • 1
    Email author
  • Syed Rizwan Hussain
    • 1
  • Shalini Gupta
    • 2
  • Mohammad Waseem
    • 1
  • Abbas Ali Mahdi
    • 1
  1. 1.Molecular Cell Biology Lab, Department of BiochemistryKing George’s Medical UniversityLucknowIndia
  2. 2.Department of Oral Pathology & MicrobiologyKing George’s Medical UniversityLucknowIndia

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