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MTHFD1 c.1958G>A and TCN2 c.776G>C polymorphisms of folate metabolism genes and their implication for oral cavity cancer Cover

MTHFD1 c.1958G>A and TCN2 c.776G>C polymorphisms of folate metabolism genes and their implication for oral cavity cancer

Open Access
|Apr 2022

Figures & Tables

Fig. 1

Analysis of the genotype polymorphism MTHFD1 c.1958G>A after hydrolysis with restriction enzyme MspI; lane 1 - marker, lanes 3, 5, 7 - heterozygote GA, lanes 2, 4 - homozygous GG, lane 6 is homozygous AA
Analysis of the genotype polymorphism MTHFD1 c.1958G>A after hydrolysis with restriction enzyme MspI; lane 1 - marker, lanes 3, 5, 7 - heterozygote GA, lanes 2, 4 - homozygous GG, lane 6 is homozygous AA

Fig. 2

Analysis of genotype polymorphism TCN2 c.776G>C after hydrolysis with restriction enzyme ScrFI; lane 1 - marker; lanes 2, 3, 5, 6, 7 - heterozygous CG, lane 4 - homozygous CC, lane 8 is homozygous GG
Analysis of genotype polymorphism TCN2 c.776G>C after hydrolysis with restriction enzyme ScrFI; lane 1 - marker; lanes 2, 3, 5, 6, 7 - heterozygous CG, lane 4 - homozygous CC, lane 8 is homozygous GG

Relationships between the patient group and the control group regarding smoking, alcohol consumption, and gender

Variables valueControls (%)Patients (%)N=220/439OR (95%CI)P value
Tobacco
(N=220)
Non-smokers150 (75.0)31 (14.1)Reference
Smokers50 (25.0)189 (85.9)18.29 (11.13–30.06)<0.0001
(N=439)
Non-smokers150 (75.0)124 (28.2)Reference
Smokers50 (25.0)315 (71.8)7.62 (5.20–11.16)<0.0001
Alcohol consumption
(N=220)
No101 (50.5)70 (31.8)Reference
Yes99 (49.5)150 (68.2)2.19 (1.47–3.25)<0.0001
(N=439)
No101 (50.5)149 (33.9)Reference
Yes99 (49.5)290 (66.1)1.98 (1.41–2.79)<0.0001
Gender
(N=220)
Female100 (50.0)52 (23.6)Reference
Male100 (50.0)168 (76.4)3.23 (2.13–4.90)<0.0001
(N=439)
Female100 (50.0)124 (28.2)Reference
Male100 (50.0)315 (71.8)2.54 (1.80–3.59)<0.0001

Genotype and allele frequencies of MTHFD1 c_1958G>A and TCN2 c_776G>C polymorphisms in oral cavity cancer patients and controls

GenotypesControls (%)N=200Patients (%)N=220/439OR (95% CI)P value
MTHFD1c.1958G>A
GG53 (26.5)55 (12.5)1.00
GA110 (55)332 (75.6)2.91 (1.88–4.49)<0.0001
AA37 (18.5)52 (11.9)1.35 (0.77–2.38)0.29
G216 (54)442 (49)1.00
A184 (46)436 (51)1.16 (0.91–1.47)0.23
TCN2 c.776G>C
GG34 (17)76 (34.5)1.00
CG71 (35.5)107 (48.7)0.67 (0.41–1.12)0.13
CC95 (47.5)37 (16.8)0.17 (0.10–0.30)<0.0001
G139 (35)259 (59)1.00
C261 (65)181 (41)0.76 (0.58–1.01)0.06

Detailed characterization of MTHFD1 and TCN2 gene polymorphisms

GeneThe encoded proteinNumber of polymorphismLocationFunction of polymorphism1AlleleMAF
MTHFD1Methylene-tetrahydrofolate-dehydrogenasers223622514: 63978598Arg653GlnG/A0,46
TCN2Transcobalamin 2rs180119822: 29341610Arg259ProG/C0,45

The primers, length of PCR products, and restriction enzymes

PolymorphismPrimersProduct lengthRestriction enzyme
MTHFD1 c.1958G>ASense5′-CAC TCC AGT GTT TGT CCA TG-3′Antisense5′-GCA TCT TGA GAG CCC TGA C-3′331 bpMspI(37°C)
TCN2 c.776G>CSense5′-CAC TTC AAG ACA CAG CAG CCA-3′Antisense5′-TCC CCT CAC TGG GAC GTC AAT-3′568 bpScrFI(37°C)

Odds ratio of oral cavity cancer related to MTHFD1 and TCN2 genotypes according to tobacco use, alcohol consumption and gender in patients with head and neck cancer

Risk factorOR (95%CI) - P value
MTHFD1c.1958G>A *TCN2 c.776G>C **
Tobacco
Non-smokers2.10 (1.09–4.06) P=0.030.72 (0.29–1.77) P=0.63
Smokers2.60 (1.29–5.23) P=0.010.15 (0.05–0.45) P<0.0001
Alcohol consumption
No1.23 (0.60–2.51) P=0.350.53 (0.27–1.01) P=0.08
Yes1.01 (0.57–1.81) P=10.26 (0.13–0.52) P<0.0001
Gender
Female1.77 (0.93–3.39) P=0.10.48 (0.22–1.04) P=0.07
Male2.28 (1.32–3.96) P=0.0030.33 (0.17–0.61) P=0.003
Language: English
Page range: 30 - 38
Submitted on: Feb 7, 2021
Accepted on: Sep 7, 2021
Published on: Apr 6, 2022
Published by: Hirszfeld Institute of Immunology and Experimental Therapy
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2022 Katarzyna Malinowska, Alicja Nowak-Zduńczyk, Anna Merecz-Sadowska, Anna Szczepańska, Dariusz Kaczmarczyk, Katarzyna Bliźniewska-Kowalska, Hanna Zielińska-Bliźniewska, published by Hirszfeld Institute of Immunology and Experimental Therapy
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.