Association of the C677T Polymorphism in the MTHFR Gene with Risk of Oral Squamous Cell Carcinoma in South Indian Population

Abstract

Background: The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with reduced enzyme activity, and a significant increase in serum homocysteine (Hcy) concentration. MTHFR C677T polymorphism was likely to play an important role in the susceptibility to OSCC. Methods:In this case-control study, we genotyped 150 OSCC patients and 150 controls, using a PCR-RFLP method. The serum total homocysteine levels were quantitatively detected using commercial enzyme immunoassay (EIA) kits from Axis-Shied Diagnostics Ltd, UK.Results: In the present study heterozygous CT genotype was found statistically significantly more prevalent in patients than in controls [OR 3.38,.004], whereas TT genotype was not statistically significant [OR 2.01,. CC genotype may be protective for OSCC [OR 0.30, 95%CI 0.13-0.67, P-value 0.003]. The mean serum tHcy levels (mmol/L) <15.0 were slightly higher in CT genotype patients (11.51±1.37) than controls (10.6±2.07), whereas the mean serum tHcy levels (Mmol/L) >15.0 were higher in cases in all three CC (26.81±7.51), CT (29.26±7.67) and TT (48.85±28.07) genotypes when compared to CC (17.85±2.18), CT (17±1.0) and TT (0) with controls. However, significant variation of homocysteine levels was not observed between the genotypes of OSCC patients and controls. Conclusion:The results of the present study indicate that the frequency of MTHFR 677 'T' allele is rare and CT genotype may be associated with OSCC risk. However, the polymorphisms in the MTHFR gene (677C/T) that are reported to modulate homocysteine levels were not associated with OSCC.

TP53 Gene Polymorphism in Epithelial Ovarian Carcinoma Patients from North Indian Population and its Pro/Pro Variant is Potentially Contributing to Cancer Susceptibility

“…When the frequency distribution of pro/pro genotype was analyzed between cases and controls, an idiosyncratic determination was observed in different cancers such as lung cancer [24,25], colorectal cancer [26], thyroid cancer [27], nasopharyngeal cancer [28] and oral squamous cell carcinoma [29] with the present study as depicted in Table 6. A significant association was seen in all cancers with a p<0.05.…”

“…Detection of p53 mutation is helpful for early diagnosis and prognosis of cancer. Recently, studies on p53 codon 72 polymorphism revealed that this polymorphism may be associated with many tumours like breast cancer [12], hepatocellular carcinoma [13], oral squamous cell carcinoma [14], leukemia [15], oesophageal and lung cancer [16]. In p53 gene, codon 72 polymorphism is the most common polymorphic site.…”

The association between MTHFR gene polymorphisms (C677T, A1298C) and oral squamous cell carcinoma: A systematic review and meta-analysis

“…25 full-text articles were retrieved and assessed for eligibility. 12 articles were excluded based on exclusion criteria, leaving 13 eligible studies with MTHFR polymorphisms and susceptibility to OSCC for final inclusion in the present meta-analysis[ 19 – 30 ].…”

“…Sample sizes of these studies ranged from 119 to 700. 9 out of these 13 studies have stated that OSCC patients were diagnosed based on histopathological confirmation[ 19 – 23 , 26 – 28 ]. MTHFR gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method in all included studies.…”