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E.C. Pavarino

Publications of : E.C. Pavarino
Human Genetics   Research Article

Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study

Down syndrome (DS) individuals present impaired adaptive immune system. However, the etiology of the immunological deficiency in these individuals is not completely understood. This study investigated the frequency of interleukin 6 polymorphisms (rs1800795, rs1800796, and rs1800797) in individuals with DS and individuals without the syndrome. The study included 282 .. Read More»

Genet. Mol. Res. 16(3): gmr16039738

DOI: 10.4238/gmr16039738

Human Genetics   Research Article

Role of MTHFR C677T and MTR A2756G polymorphisms in thyroid and breast cancer development

    T. Zara-Lopes, A.P.A. Gimenez-Martins, C.H.V. Nascimento-Filho, M.M.U. Castanhole-Nunes, A.L.S. Galbiatti-Dias, J.A. Padovani-Júnior, J.V. Maniglia, J.L.E. Francisco, E.C. Pavarino and E.M. Goloni-Bertollo

Folate metabolism is essential for DNA synthesis and repair. Alterations in genes that participate in folate metabolism can be associated with several types of malignant neoplasms, including thyroid and breast cancer. In the present case-control study, we examined the association between methylenetetrahydrofolate reductase (MTHFR C677T, rs1801133) and methionine syn.. Read More»

Genet. Mol. Res. 15(2): gmr.15028222

DOI: 10.4238/gmr.15028222

Medical Genetics   Research Article

A case-control study of CYP2E1 (PstI) and CYP1A1 (MspI) polymorphisms in colorectal cancer

    M.A. Proença, G.M.M. Fernandes, A. Russo, R.B. Lelis, J.G. Netinho, G.S. Cunrath, A.E. Silva, E.M. Goloni-Bertollo and E.C. Pavarino

Polymorphisms in genes encoding P450 cytochrome enzymes may increase the risk of sporadic colorectal cancer (SCRC). Here we investigated the association between SCRC and CYP2E1 (PstI) and CYP1A1 (MspI) polymorphisms in a case-control study. Moreover, we sought to determine any possible associations between this disease and the sociodemographic factors. We included 273 individuals (74 patients a.. Read More»

Genet. Mol. Res. 14(4): 2015.December.22.10

DOI: 10.4238/2015.December.22.10

Cytogenomics   Research Article

Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil

    J.M. Biselli, E.M. Goloni-Bertollo, B.L. Zampieri, R. Haddad, M.N. Eberlin and E.C. Pavarino-Bertelli

The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). Seventy-two DS mothers and 194 mothers who had no children with DS wer.. Read More»

Genet. Mol. Res. 7(1): vol7-1gmr388

DOI: 10.4238/vol7-1gmr388