Association of polymorphisms C677T and A1298C in MTHFR gene and the potential development of cervical cancer in a brazilian population

• Grant number: 12/23674-4
• Support Opportunities: Regular Research Grants
• Duration: March 01, 2013 - August 31, 2014
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Monica Vannucci Nunes Lipay
• Grantee: Monica Vannucci Nunes Lipay
• Host Institution: Faculdade de Medicina de Jundiaí (FMJ). Prefeitura Municipal de Jundiaí. Jundiaí , SP, Brazil

Abstract

The 5-10 methylenetetrahydrofolate reductase - MTHFR is the main regulatory enzyme of homocysteine metabolism. The accumulation of plasma homocysteine is considered a risk factor for several diseases that are frequent in the population. It is known that reduced activity of MTHFR requires an increased dietary intake of folate to maintain normal folate metabolic pathways and thus there is no accumulation of homocysteine. Besides the focus on diet rich in folate, several other studies have been devoted to knowing and identifying single nucleotide polymorphisms (SNPs) in genes related to folate metabolism. The SNPs more studied include A1298C and C677T in MTHFR gene, A2756G in methionine synthase (MS gene) and A66G methionine synthase reductase (MTRR) gene. Several recent studies attempt to relate some of the MTHFR gene SNPs with the development of cancers in different populations, but it is important to have knowledge of the polymorphic distribution, that may vary greatly in different populations. According to the importance of knowing the risk factors for the development of various pathologies of multifactorial etiology, among this cancer, the goal of the current project is to investigate the association between the risk of developing cervical cancer and single nucleotide polymorphisms (SNPs) A1298C and C677T of the MTHFR gene in Brazilian women. From what we know so far, there are no studies in the literature that addresses the relationship of these polymorphisms with the development of cancer of the cervix in the Brazilian population. We expect to find a strong correlation between polymorphisms and the occurrence of cervical lesions. Thus we confirm that individuals with polymorphisms (C677T and A1298C mutant mutant) are more likely to develop cervical lesions and when in contact with HPV and other risk factors for developing cervical cancer if not monitored and treated correctly. In conclusion, it would be able to consider the presence of these polymorphisms in an individual as a risk factor for cervical cancer, since it is known that this is a multifactorial disease that affects a large percentage of the population. (AU)