RGD Reference Report - The effect of methylenetetrahydrofolate reductase polymorphisms on susceptibility to human papilloma virus infection and cervical cancer. - Rat Genome Database

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The effect of methylenetetrahydrofolate reductase polymorphisms on susceptibility to human papilloma virus infection and cervical cancer.

Authors: Hajiesmaeil, Mogge  Tafvizi, Farzaneh  Sarmadi, Soheila 
Citation: Hajiesmaeil M, etal., Infect Genet Evol. 2016 Dec;46:1-6. doi: 10.1016/j.meegid.2016.10.012. Epub 2016 Oct 19.
RGD ID: 38501051
Pubmed: PMID:27771518   (View Abstract at PubMed)
DOI: DOI:10.1016/j.meegid.2016.10.012   (Journal Full-text)

Cervical cancer is the third most common cancer among women worldwide. Several factors lead to cervical cancer, among which human papilloma virus (HPV) infection has a prominent role. Methylenetetrahydrofolate reductase (MTHFR) is crucial in folate metabolic pathway and plays an important role in DNA synthesis and DNA methylation. MTHFR gene polymorphisms, including C677T and A1298C, lead to reduced enzyme activity. This case-control study aims to illustrate the association between MTHFR gene polymorphisms and the risk of cervical cancer. This study was conducted on 196 samples, which included 96 cervical biopsy samples compared to 100 Pap smear samples of normal healthy women without HPV infection. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for the MTHFR polymorphism detection, followed by fluorescent amplification-based specific hybridization PCR method to detect HPV16 and HPV18. The results show that the MTHFR 677TT genotype plays a protective role in cervical cancer (P=0.0030) (OR=0.21, 95% confidence interval [CI]: 0.07-0.59). Furthermore, there was a strong significant association between MTHFR 1298CC genotype and the risk of cervical cancer (OR=10.69; 95% CI: 4.28-26.71, P=0.0001). It can be concluded that A1298C polymorphism is a genetic risk factor for cervical cancer in the assessed Iranian population group. It seems that MTHFR 1298CC genotype is more susceptible to HPV 16 infection. Combination analysis of MTHFR C677T and A1298C polymorphisms revealed that combined MTHFR 677CC and 1298CC are strongly associated with a risk of cervical cancer.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cervical cancer susceptibilityIAGP 38501051DNA:missense mutation:cds:g.1298A>C (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Cervical intraepithelial neoplasia susceptibilityIAGP 38501051DNA:missense mutation:cds:g.1298A>C (human)RGD 
Persistent human papillomavirus infection susceptibilityIAGP 38501051DNA:missense mutations:cds:g.677C>T and g.1298A>C (human)RGD 
Objects Annotated

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information