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1.
Diabetes Res Clin Pract ; 99(2): 85-92, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23245808

ABSTRACT

The Type 2 diabetes mellitus (DM2) is considered nowadays as one of the most important chronic disturbances because of the significant number of people with diabetes and its severe complications, responsible for elevated indexes of morbidity and mortality. DM2 is characterized by several degrees of insulin resistance and relative deficiency in its secretion. Genetic and environmental factors have been described as of major importance in the DM2 development as obesity, which is directly correlated with development of resistance in peripheral tissues and inflammatory state in metabolic activated adipose tissue. Inflammatory responses may have a dual role in DM2, since it may have either a causal relationship leading to resistance to insulin or may be intensified by the hyperglycemic state, resulting in DM2 complications. In this review, we discuss the association of polymorphisms in genes encoding inflammatory cytokines and the increased level of these pro-inflammatory markers, associated to chronic pathologic conditions in DM2.


Subject(s)
Adipose Tissue/metabolism , Cytokines/metabolism , Diabetes Mellitus, Type 2/metabolism , Inflammation/metabolism , Diabetes Mellitus, Type 2/genetics , Humans , Inflammation/genetics , Polymorphism, Genetic/genetics
2.
Mol Cell Biochem ; 357(1-2): 247-53, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21625954

ABSTRACT

Genetic factors related to cancer have been extensively studied and several polymorphisms have been associated to breast cancer. The FGFR4, MTHFR, and HFE genes have been associated with neoplastic diseases development. The current report outlines the analysis of the polymorphisms G388A (FGFR4), C677T (MTHFR), C282Y, and H63D (HFE) in Brazilian breast cancer patients. We studied 68 patients with invasive ductal and operable breast carcinoma and 85 women as a control group. The polymorphism frequencies in the breast cancer and control groups were analyzed, but no significant difference was observed by comparing the two groups. The presence of each polymorphism was analyzed according to the clinical features and markers already established as prognostic in the breast cancer group. The C677T, H63D, and G388A polymorphisms were not associated to histological grade, age of diagnosis, expression of HER2 receptor, or estrogen and progesterone receptor. The H63D polymorphism showed a significant association (P = 0.02) with the presence of p53 mutations, and C667T showed association to lymph node involvement (P = 0.05). Lymph node involvement, G388A polymorphism, and histological grade were independently associated to metastasis/death. Our data suggests that the polymorphisms G388A, C677T, and H63D are not useful in breast cancer diagnosis, but they may be significant additional prognostic markers related to breast cancer survival.


Subject(s)
Breast Neoplasms/genetics , Histocompatibility Antigens Class I/genetics , Membrane Proteins/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Receptor, Fibroblast Growth Factor, Type 4/genetics , Brazil , Breast Neoplasms/epidemiology , Breast Neoplasms/pathology , Female , Genetic Association Studies , Hemochromatosis Protein , Heterozygote , Homozygote , Humans , Middle Aged , Neoplasm Staging , Polymorphism, Genetic , Prognosis , Receptor, ErbB-2/analysis , Receptors, Estrogen/analysis , Receptors, Progesterone/analysis , Survival Analysis
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