Repositório Institucional - Unifesp :: Navegando por Palavras-chave "Polymorphism, genetic"

Navegando por Palavras-chave "Polymorphism, genetic"

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Acesso aberto (Open Access)
Análise do polimorfismo do gene CYP 17 como fator relacionado ao desenvolvimento do leiomioma uterino
(Universidade Federal de São Paulo (UNIFESP), 2009-09-24) Vieira, Lucinda Coelho Esperança [UNIFESP]; Girão, Manoel João Batista Castello [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
Objective: Uterine leiomyoma is the most common pelvic tumor in women of reproductive age. It has been well established that endogenous sex hormones are involved in the pathogenesis of the disease, and polymorphisms in genes encoding for enzymes that act in the steroid hormones metabolism, as the CYP17, may therefore play a role in the genesis of fibroids. Variations in this gene have been thought to be candidates influencing the susceptibility to hormone-related diseases. A single nucleotide polymorphism (T→C) [rs1042386] in the promoter region of CYP17 is speculated to alter its transcription. The present study was conducted to investigate the association between this polymorphism and the presence of uterine leiomyoma in Brazilian women. Methods: Genotyping of the CYP17 was performed in 121 uterine fibroid patients and 120 unaffected women using polymerase chain reaction and restriction fragment length polymorphism analysis. Results: No significant difference in the CYP17 genotype distribution was noted between cases and controls (p=0.165) Conclusion: These findings suggest that the CYP17 gene polymorphism studied is unlikely to be associated with risk for uterine leiomyoma in Brazilian women.
Somente Metadadados
Análise dos polimorfismos ALA55VAL e inserção/deleção no exon 8 do gene da UCP-2 e suas relações com obesidade severa
(Universidade Federal de São Paulo (UNIFESP), 2001) Vendramini, Marcio Faleiros [UNIFESP]; Moises, Regina Celia Mello Santiago [UNIFESP]
As proteínas desacopladoras ("Uncoupling Proteins" - UCP) sao transportadores da membrana mitocondrial interna que dissipam o gradiente de prótons, liberando a energia estocada na forma de calor. Um dos subtipos desta proteína, a UCP-2, é largamente expressa no tecido adiposo branco em humanos, estando implicada no balanço energético em indivíduos adultos. Sendo a obesidade decorrente de um desbalanço entre o consumo calórico e o gasto energético, as UCPs tem sido investigadas como genes candidatos para a regulaçao do peso corporal. No presente estudo, investigamos associaçoes entre os polimorfismos Ala55Val no exon 4 e Inserçao / Deleçao de 45 pares de base no exon 8 do gene Ida UCP-2 com indicadores de obesidade e resistência à insulina. Foram selecionados 100 indivíduos portadores de obesidade severa (I.M.C. ? 40 kg/m2) e 70 indivíduos com I.M.C. entre 18 e 25 kg/m2, comparáveis em relaçao a idade e sexo Verificamos que a distribuiçao genotípica dos dois polimorfismos foi semelhante entre os indivíduos portadores de obesidade e os com peso adequado. Em relaçao ao polimorfismo Ala55Val no exon 4, os portadores de obesidade e carreadores do alelo Val apresentaram maiores níveis de pressao arterial sistólica (150 ñ 13,5 mmHg vs 140 ñ 19,3 mmHg; p= 0,024) quando comparados àqueles com genótipo Ala/Ala. Porém, em relaçao a outras variáveis antropométricas e metabólicas pesquisadas, nao encontramos associaçao com os polimorfismos. Em conclusao, na populaçao estudada, as variantes Ala55Val no exon 4 e Inserçao / Deleçao no exon 8 do gene da UCP-2 nao sao fatores contribuintes para a obesidade severa ou outras anormalidades metabólicas. Porém, é possível que a variante do exon 4 do gene da UCP-2 possa contribuir para a elevaçao de pressao arterial sistólica entre os portadores de obesidade.
Acesso aberto (Open Access)
Associação entre os polimorfismos HaeIII e MspI do gene para o receptor alfa de estrogênio e densidade mamográfica em mulheres após a menopausa
(Federação Brasileira das Sociedades de Ginecologia e Obstetrícia, 2006-10-01) Ramos, Eduardo Henrique de Moura [UNIFESP]; Kemp, Claudio [UNIFESP]; Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
PURPOSE: To assess the presence of estrogen receptor gene polymorphisms HaeIII and MspI as well as clinical factors, and their possible associations with high mammographic density in post-menopausal women. METHODS: One hundred and fifteen post-menopausal women, not in use of hormonal therapy and without clinical or mammographic lesions were evaluated. Three independent observers have determined the mammographic density pattern based on the ACR-BIRADS® 2003 (two subjective and one objective evaluations - Adobe Photoshop 7.0 software). Oral swabs (Cytobrush) were obtained to extract DNA and the polymerase chain reaction - restriction fragment length polymorphism) was performed to assess the presence of polymorphisms in intron 1 and exon 1 from estrogen receptor gene (HaeIII and MspI). RESULTS: The HaeIII polymorphism was found in 43 (37.4%) of the 115 women, while MspI was found in 96 (83.5%) of them. There was a good agreement among determinations of the three observers with regard to mammographic density. Thirty-four (29.6%) women had dense breasts and eighty-one (70.4%) had non-dense breasts. CONCLUSION: The estrogen receptor gene polymorphism Haelll showed no association with mammographic density (Fisher = 0.712), while the association between estrogen receptor gene polymorphism Mspl and mammographic density was near significance (Fisher = 0.098). The associations among age, parity and body mass index revealed statistical significance.
Acesso aberto (Open Access)
Associação entre polimorfismos do gene do receptor alfa de estrogênio com a densidade mamográfica em mulheres após a menopausa
(Universidade Federal de São Paulo (UNIFESP), 2009-04-29) Ramos, Eduardo Henrique de Moura [UNIFESP]; Nazário, Afonso Celso Pinto [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
Introduction: Genes that encode proteins involved at biosynthesis, action and metabolism of sexual steroids are polymorphics. This condition could explain individual variations in mammographic density. The objectives of this study were to evaluate a possible association of clinical characteristics and polymorphisms HaeIII, MspI and XbaI of the estrogen receptor gene alpha with postmenopausal mammographic density. Methods: Prospective evaluation was made of 120 women who were not hormone therapy users and had no identified breast lesions. Bilateral mammography was obtained from the group, and the radiological density was determined by three independent observers, with two subjective evaluations based on the ACR-BIRADS® (2003) classification of mammographic patterns and one computerized evaluation – the grey-scale histogram tool of the Adobe Photoshop® 7.0 software. Peripheral blood samples were obtained for DNA extraction, performed according to the GFX® Kit protocol from Amersham-Pharmacia. PCR-RFLP (Polymerase Chain Reaction - Restriction Fragment Length Polymorphism) was carried out for an analysis of the polymorphisms present in intron 1 (HaeIII and XbaI) and in exon 1 (MspI) of the estrogen receptor gene. Results: There was a high degree of concordance among the observers in the determination of mammographic density (Kappa, Pearson and Spearman index - p<0.001). The associations of clinical characteristics with mammographic density were: age (p=0,04), body mass index (p<0.0001), age at menarche (p=0.02), age at menopause (p=0.120), age at first delivery (p=0.120) and parity (p=0.09). The relation between the allele distribution of the polymorphisms and the density was: XbaI (p=0.02), HaeIII (p=0.65) and MspI (p=0.65). Conclusion: Polymorphism XbaI and the clinical factors age, menarche and body mass index showed to be associated with postmenopausal mammographic density.
Embargo
Avaliação do papel do nível plasmático de citocinas e de alguns polimorfismos dos genes de citocinas no risco de tromboembolismo venoso
(Universidade Federal de São Paulo (UNIFESP), 2009-11-25) Matos, Marinez Farana [UNIFESP]; Morelli, Vania Maris [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
thromboembolism (VTE). However, clinical studies are few and show controversial results regarding the role of cytokines, acute-phase proteins and polymorphisms of cytokine genes on the risk of VTE. Objectives: the aims of this case-control study were to (1) investigate the association between the risk of VTE and plasma levels of IL-1beta, IL-6, IL-8, MCP-1 and acute-phase proteins; (2) evaluate the effect of some demographic and clinical variables as well as polymorphisms on the risk of VTE and whether these variables could influence cytokines levels; (3) investigate a possible correlation between levels of cytokines, acute-phase proteins and markers of blood coagulation and fibrinolysis in patients with VTE. Patients and methods: 122 patients (96 women, 79%) with a first objectively confirmed episode of VTE and a median age of 39.5 years were included. Exclusion criteria were malignancy, autoimmune diseases, antiphospholipid syndrome, chronic renal or liver disease and arterial thrombosis. Patients were seen at least 1 month after the discontinuation of the anticoagulant treatment and > 7 months after the event of VTE. Control group was comprised of 131 healthy subjects (105 women, 80%), with median age of 38 years. The following polymorphism were investigated: IL-1 beta -511CT, IL-1 beta -31TC, IL-6 -174GC, IL-8 -251 AT and MCP-1 -2518AG Results: gender, age and body mass index (BMI) were significantly associated with cytokine and acute-phase proteins levels. Elevated levels (> 90th percentile of controls) of IL-6 [Odds ratio (OR) = 3.64; 95% confidence interval (CI) 1.82 – 7.30] and IL-8 (OR = 2.42; 95%CI 1.15 – 5. 08) had a significant impact on the risk of VTE that remained after adjustment for sex, age, BMI and C-reactive protein. No correlation was found between the time since the event of VTE and levels of IL-6 (r = 0.064; P = 0.485) and IL-8 (r = 0.070; P = 0.442). There was a positive correlation between IL-8 and prothrombin fragment 1 + 2 levels (r = 0.203; P = 0.025). Median levels of d-dimer were significantly higher among patients with detectable levels of IL-1 beta (P < 0.0001). Except for the polymorphism IL-1 beta -31TC in controls, none of the polymorphisms were able to influence cytokine levels. Furthermore no polymorphism influenced thrombosis risk. Conclusion: elevated levels of IL-6 and IL-8 had a significant impact on the risk of VTE in a relatively young population of patients. No association was found between the time since the event and the level of these cytokines, which could suggest that inflammation is not only a consequence of the thrombosis. The relationship between IL-8 and IL-1 beta with markers of blood coagulation and fibrinolysis might indicate a possible procoagulant role of these cytokine in patients with VTE.
Acesso aberto (Open Access)
Esquizofrenia e síndrome da deleção 22q11.2: Caracterização de genes relevantes
(Universidade Federal de São Paulo (UNIFESP), 2011-02-22) Ota, Vanessa Kiyomi Arashiro [UNIFESP]; Smith, Marilia de Arruda Cardoso [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
Introdução: A esquizofrenia é o transtorno mental mais grave e incapacitante entre os distúrbios psiquiátricos. Ela é uma doença complexa e com fenótipo heterogêneo. Dentre os fatores genéticos que parecem ter um papel na etiologia da esquizofrenia está a deleção 22q11.2. Objetivos: Investigar alterações cromossômicas, polimorfismos dos genes UFD1L e ZDHHC8, mutações no gene TBX1 e variações no número de cópias na esquizofrenia e na síndrome da deleção 22q11.2, e correlacionar com achados de avaliações genético-clínicas, psiquiátricas, neuropsicológicas e de neuroimagem. Métodos: Um total de 200 portadores de esquizofrenia, 200 indivíduos controles e 10 portadores do fenótipo clínico da síndrome da deleção 22q11.2, mas sem a deleção, participaram do presente estudo. Os pacientes com esquizofrenia foram estudados por citogenética clássica e Multiplex Ligation-dependent probe amplification. Os polimorfismos rs5992403 (gene UFD1L) e rs175174 (gene ZDHHC8) foram investigados em pacientes com esquizofrenia e controles por meio de PCR em tempo real com sonda TaqMan. Outros polimorfismos do gene UFD1L foram analisados, rs5746744 e rs1547931, por Restriction Fragment Length Polymorphism. Mutações no gene TBX1 foram investigadas em portadores do fenótipo clínico da síndrome da deleção 22q11.2, mas sem a deleção, por meio de sequenciamento genômico. As variações no número de cópias foram analisadas por meio da metodologia de array em pools. Os pacientes com esquizofrenia também foram avaliados por testes neuropsicológicos e por neuroimagem estrutural. Resultados: Todos os cariótipos estudados foram normais. Foi encontrada um paciente com a deleção de 1,5 megabases na região 22q11.2. Os polimorfismos rs5992403 (UFD1L) e rs175174 (ZDHHC8) foram associados com a idade de acometimento da esquizofrenia. Além disso, todos os polimorfismos investigados parecem desempenhar um papel na morfologia cerebral e em habilidades cognitvas. Nenhuma mutação foi encontrada no gene TBX1, apenas polimorfismos, em portadores do fenótipo clínico da 22q11DS. Foram encontradas três regiões amplificadas em pools de DNAs de portadores de esquizofrenia: 1p36.32, 2q37.3 e 22q11.21. Conclusões: O estudo permitiu avaliar a participação de fatores genéticos em determinadas características da esquizofrenia, propiciando um melhor entendimento sobre a etiologia e fisiopatologia dessa doença complexa.
Acesso aberto (Open Access)
Estabelecimento do cariótipo molecular e associações sintênicas entre tripanossomas de morcegos do clado Trypanosoma cruzi
(Universidade Federal de São Paulo (UNIFESP), 2017-05-30) Cavalcante, Caroline Cortez [UNIFESP]; Silveira Filho, José Franco da [UNIFESP]; http://lattes.cnpq.br/8810765839775059; http://lattes.cnpq.br/4417858914209941; Universidade Federal de São Paulo (UNIFESP)
The genus Trypanosoma comprises hemoflagellate parasites generally transmitted to vertebrate host by hematophagous arthropods. The clade Schizotrypanum (Trypanosoma cruzi and T. cruzi-like) includes pathogenic and non-pathogenic trypanosomes of mammals (terrestrial and bats) of South America: T. cruzi, Trypanosoma cruzi marinkellei, Trypanosoma dionisii, Trypanosoma conorhini, and other related isolates (T. cruzi bat, T. rangeli-like). T. cruzi taxon includes trypanosomes isolated from Brazilian bats identified as T. cruzi bat and T. cruzi marinkellei, prevalent in bats from Central and South America. Bat trypanosomes are very interesting at the evolutionary level, since it has been proposed that T. cruzi and T. rangeli evolved from lineages of bat trypanosome that have switched into terrestrial mammals (“bat” seeding hypothesys). Analyses of chromosomal organization and syntenic associations of bat trypanosomes of clade T. cruzi is an important step in the study of T. cruzi chromosome evolution. Here we compared the T. cruzi karyotype with those of three bat trypanosome isolates from the clade T. cruzi (T. cruzi marinkellei, T. dionisii and T. cruzi bat) by hybridization of the chromosomal bands separated by pulsed field electrophoresis (PFGE) with chromosome-specific markers and comparative genomic hybridization based on DNA microarray (aCGH). The karyotypes of T. cruzi bat, T. cruzi marinkellei and T. dionisii were defined using clone CL Brener (TcVI strain) and T. cruzi strain G (TcI strain) as reference. Taking into consideration the number and size of chromosomal bands, the karyotypes of T. cruzi marinkellei and T. cruzi bat are very close to that of T. cruzi (lineage TcI). T. dionisii have significant differences in relation to isolates of clade T. cruzi, in agreement to previous studies that suggest T. dionisii is phylogenetically distant from T. cruzi. Hybridization of chromosomal bands with chromosome-specific markers has shown that several syntenic blocks defined in T. cruzi are also conserved in isolates of clade T. cruzi. Some alterations could be explained by segmental duplication followed by translocation to another chromosome or deletion and / or duplication of chromosomal ends by ectopic recombination. The genomes of T. cruzi bat, T. cruzi marinkellei and T. dionisii were compared to that of clone CL Brener by aCGH. It was identified 81 chromosomal alterations (47 gains, 34 losses) being 24 in T. cruzi bat, 16 in T. cruzi marinkellei and 41 in T. dionisii. Differences between T. cruzi marinkellei and T. cruzi are consistent with the low number of repeated sequences, including multigenic families, in T cruzi marinkellei. Several of syntenic relationships established by hybridization of chromosomal bands with chromosome-specific markers were validated by aCGH. Gain or loss regions can be correlated with events of segmental duplication and translocation. We have also detected gain or loss events resulting from deletion and / or duplication of the chromosomal ends by ectopic recombination. T. cruzi marinkellei appears to have completely duplicated the chromosome TcCh39 changing the number of copies of this chromosome (aneuploidy). Taken together, our results suggest that the bat isolates of clade T. cruzi seem capable of generating genetic variability in the absence of sexual reproduction, but without compromising the gene core responsible for their vital activities.
Acesso aberto (Open Access)
Estudo da imunogenicidade e segurança da vacina tríplice bacteriana acelular do adulto (dTpa) em crianças e adolescentes com artrite idiopática juvenil (AIJ)
(Universidade Federal de São Paulo (UNIFESP), 2017-05-25) Nicacio, Aline Alencar Martins Fernandes [UNIFESP]; Terreri, Maria Teresa de Sande e Lemos Ramos Ascensão [UNIFESP]; Pinto, Maria Isabel de Moraes [UNIFESP]; http://lattes.cnpq.br/0967318191677557; http://lattes.cnpq.br/2661280959330284; http://lattes.cnpq.br/1618399462513631; Universidade Federal de São Paulo (UNIFESP)
Introduction: Juvenile Idiopathic Arthritis (JIA) is the most common chronic rheumatic disease in childhood, accounting for varying degrees of physical disability. Protection of infections through active immunization is essential in patients with JIA using immunosuppressive drugs. However, there are still doubts about indication, safety and efficacy, as well as reactivation of the disease in this group of patients when using these vaccines. Objectives: The aim of this study was to evaluate the immunogenicity and safety of adult acellular bacterial triple vaccine (dTpa) in patients with JIA with or without use of anti-TNF agents. Methods: This is a prospective longitudinal experimental study in which three groups of individuals were assessed: one with patients with JIA according to ILAR criteria using anti-TNF agent (n=19), another with JIA patients without use of anti-TNF agent (n=19) and another from healthy individuals (Control, n=27), paired with case groups by age and gender. A 0.5 ml dose of the diphtheria, tetanus, acellular pertussis (dTpa) adsorbed vaccine (ADACEL® Sanofi Pasteur, Toronto, Canada) was administered intramuscularly in the non-dominant arm of the selected subjects. Samples of 10 mL of peripheral blood were collected on the day of vaccination (D0), after 14 days (D14) and 28 days after vaccination (D28). Serology for tetanus, diphtheria and pertussis and immunophenotyping of lymphocytes in peripheral blood were performed. Results: Patients with and without anti-TNF agents did not present significant differences in the frequency of ANA (anti-nuclear antibody), RF (rheumatoid factor) and presence of uveitis. There was only association between use of anti-TNF and course subtype (p = 0.009). Thus, it was observed that patients without anti-TNF had a higher percentage of persistent oligo (36.8% vs 0%) and lower ERA frequency (0.0% vs 21.1%) compared to the group onf anti-TNF. In the group on anti-TNF agent, about half were on fusion protein (etanercept), while the other half were on monoclonal antibody (adalimumab or infliximab). We did not observe reactivation of the disease after vaccination. We observed presence of adverse events in about one third of the individuals, being pain at the site of the vaccine the most prevalent. Differences in the immunophenotypic profile were observed, but without repercussion in the humoral immune response to the three antigens evaluated. Conclusion: The subjects with JIA with or without use of anti-TNF agents showed a good response to a booster dose for the three antigens studied in the absence of major adverse events and without reactivation of the disease.
Acesso aberto (Open Access)
Estudo de associações entre o gene PER3 e a sincronização de ritmos circadianos pelo claro/escuro
(Universidade Federal de São Paulo (UNIFESP), 2011-09-28) Pereira, Danyella Silva [UNIFESP]; Pedrazzoli, Mario [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
Per3 gene is a component of the circadian molecular mechanism. Its function is not completely understood. One of the hypotheses is that Per3 gene may be involved in light synchronization mechanism. The aim of this project was investigate the association between Per3 gene and circadian rhythmicity dependent of the photophase duration in different light/dark cycle regimens. The experimental protocol was divided in two parts: 1. We investigated the possible mechanisms of association between Per3 gene and adaptation/duration of the photophase in Per3-/- mice by exposing the animals to different light/dark cycles with long or short photophases 2. Based on the results of experiment 1, we developed an experiment in humans in order to investigate if the results in mice were someway applicable to our population. Subjects from two locations with different latitudes were selected (Natal and São Paulo) and the experiment was carried out in two different seasons of the year to mimic photophase variation. The first part of our results suggested that Per3 gene is associated with sensitivity of masking by light. In the second part of the study, we found a phase delay in the circadian parameters analyzed (beginning and end of activity, markers of activity (M10) and temperature (M6)) in the PER35/5 group from Natal on November, when compared to the São Paulo group. Our data in mice point out a new hypothesis related to masking effect that may contribute to the understanding of Per3 gene function in the regulation of circadian rhythms and the human data show that it is possible to associate Per3 gene with the phase adjustments derived from specific characteristics of light/dark cycle in different latitudes.
Acesso aberto (Open Access)
Frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low bone mineral density
(Associação Paulista de Medicina - APM, 2014-01-01) Moura, Katia Franco Quaresma de [UNIFESP]; Haidar, Mauro Abi [UNIFESP]; Bonduki, Claudio; Feldner Junior, Paulo Cezar [UNIFESP]; Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP]; Soares Júnior, José Maria [UNIFESP]; Girão, Manoel João Batista Castello [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
CONTEXT AND OBJECTIVE:Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD). Studies have shown that some of the genetic components relating to lower BMD may be detected by polymorphisms. Our aim was to evaluate the frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low BMD.DESIGN AND SETTING:Cross-sectional study, conducted in a public university in São Paulo, Brazil.METHODS : We evaluated interleukin-6 (IL-6), progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) polymorphisms in 110 postmenopausal women with no previous use of hormone therapy. Tests were performed using DNA-PCR, from oral scrapings. We used Student's t-test and a logistic regression model for statistical analysis.RESULTS : Regarding IL-6 polymorphism, 58.2% of the patients were homozygotes (GG) and 41.8% had allele C (heterozygote or mutant homozygote + GC or CC). PROGINS genotype polymorphism was absent in 79% (wild homozygote or P1/P1) and present in 20.9% (heterozygote or P1/P2). Regarding GSTM1 polymorphism, the allele (1/1) was present in 72.7% of the patients and was absent in 27.3%. We found that IL-6 polymorphism had statistically significant correlations with the L2-L4 T-score (P = 0.032) and with BMD (P = 0.005). Women with IL-6 polymorphism were 2.3 times more likely to have a L2-L4 T-score of less than -1, compared with those not presenting this polymorphism.CONCLUSION:IL-6 gene polymorphism was correlated with low BMD, whereas the PROGINS and GSTM1 polymorphisms did not show any correlation.
Acesso aberto (Open Access)
Mammographic density among indigenous women in forested areas in the state of Amapa, Brazil: a cross-sectional study
(Associacao Paulista Medicina, 2017) Secco, Jose Mauro [UNIFESP]; Elias, Simone [UNIFESP]; Carvalho, Cristina Valletta de [UNIFESP]; Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP]; Campos, Katia Jung de [UNIFESP]; Facina, Gil [UNIFESP]; Nazario, Afonso Celso Pinto [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
CONTEXT AND OBJECTIVE: There is no register of breast cancer cases among indigenous populations in Brazil. The objective here was to evaluate the association of clinical and demographic characteristics with mammographic density among indigenous women. DESIGN AND SETTING: Cross-sectional analytical study conducted in indigenous territories in the state of Amapa, Brazil. METHODS: Women were recruited from three indigenous territories and underwent bilateral mammography and blood collection for hormonal analysis. They were interviewed with the aid of an interpreter. Mammographic density was calculated using computer assistance, and was expressed as dense or non-dense. RESULTS: A total of 137 indigenous women were included in this study, with an average age of 50.4 years, and an average age at the menarche of 12.8 years. Half (50.3%) of the 137 participants had not reached the menopause at the time of this study. The women had had an average of 8.7 children, and only two had never breastfed. The average body mass index of the population as a whole was 25.1 kg/m(2). The mammographic evaluation showed that 82% of women had non-dense breasts. The clinical characteristics associated with mammographic density were age (P = 0.0001), follicle-stimulating hormone (FSH) (P < 0.001) and estrogen levels (P < 0.01). CONCLUSIONS: The majority of the indigenous women had non-dense breasts. Age, menopausal status and FSH and estrogen levels were associated with mammographic density.
Somente Metadadados
Polimorfismo da região promotora do gene FAS/CD95 e sua relação com o carcinoma espinocelular do colo do útero
(Universidade Federal de São Paulo (UNIFESP), 2005) Zucchi, Flavio [UNIFESP]
Objetivo: A apoptose representa importante mecanismo de defesa nos casos de carcinoma associados à infecção pelo Papilomavírus Humano (HPV). Esse estudo tem como objetivo avaliar a relação do polimorfismo AIG da região promotora do gene Fas - 670 com o risco de câncer cervical por meio de grupo controle pareado. Material e Métodos: O material de estudo consiste de 91 pacientes com carcinoma cervical confirmado por estudo histopatológico, e 176 pacientes com citologia oncótica e colposcopia normais. Todos os casos são de pacientes brasileiras, e o genótipo do gene Fas foi obtido por meio da técnica de PCR e RFLP. Resultados: Não houve diferença significante na distribuição do polimorfismo do gene Fas (selvagem, heterozigoto e mutante) entre os grupos de estudo e controle. O genótipo heterozigoto (OR 4,85, 95 por cento CI 1.1-22,6) entre as pacientes com câncer mais jovens « 45 anos), estava cinco vezes aumentado, quando comparado com o tipo selvagem. Conclusão: Nosso estudo sugere que o polimorfismo 670 AIG da região promotora do gene Fas está associado com aumento de câncer cervical entre mulheres brasileiras abaixo dos 46 anos. O possível mecanismo seria a inibição de apoptose por falha da transcrição mediada pelo alelo 670 G.
Acesso aberto (Open Access)
Polimorfismo do gene da eca e da α-actinina 3 na escoliose idiopática do adolescente
(Sociedade Brasileira de Ortopedia e Traumatologia, 2013-06-01) Wajchenberg, Marcelo [UNIFESP]; Luciano, Rafael de Paiva [UNIFESP]; Araújo, Ronaldo de Carvalho [UNIFESP]; Martins, Délio Eulálio [UNIFESP]; Puertas, Eduardo Barros [UNIFESP]; Almeida, Sandro Soares [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
OBJECTIVE: The I/D polymorphism of angiotensin-converting enzyme (ACE) and R577X of the α-actinin-3 (ACTN3) is related to changes in skeletal muscle function. The aim of this study was to evaluate the distribution of these polymorphisms in a family with multiple members with adolescent idiopathic scoliosis (AIS). METHODS: Evaluated 25 subjects from a family with multiple members with AIS, by collecting 10mL of blood for DNA isolation. The genotyping of the I/D polymorphism of the ACE gene and the R577X of the ACTN3 gene was performed using two specific primers to classify individuals as homozygous or heterozygous. RESULTS: Regarding the ACE polymorphism it was found that 19 (76%) subjects were DD and 6 (24%) ID. The prevalence of the D allele was 88% and the I allele was 12%. Regarding the ACTN3 polymorphism there were 6 subjects RR (24%), 11 RX (44%) and 8 XX (32%). The prevalence of the R allele was 23 (46%) and the X allele was 27 (54%). CONCLUSION: There was a difference between the distribution of the polymorphism of ACE and ACTN3 in the family studied. When assessing the ACE polymorphism a higher prevalence of the D allele was observed as compared with the I allele. Level of evidence iii, cross-sectional, clinical trial.
Acesso aberto (Open Access)
Polimorfismo do gene dos receptores de progesterona e o aborto espontâneo de repetição
(Federação Brasileira das Sociedades de Ginecologia e Obstetrícia, 2010-05-01) Traina, Évelyn; Daher, Silvia [UNIFESP]; Franchim, Camila Sommerauer [UNIFESP]; Fuziy, Juliana Aoki [UNIFESP]; Moron, Antonio Fernandes [UNIFESP]; Banzato, Priscilla Chamelete Andrade [UNIFESP]; Mattar, Rosiane [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
PURPOSE: to assess a possible association between polymorphism of the progesterone receptor gene (PROGINS) and recurrent spontaneous abortion (RSA). METHODS: in this case-control study, 85 women with at least three previous spontaneous abortions without an identifiable cause (RSA Group) and 157 women with at least two previous term pregnancies without pathologies and no previous miscarriage (Control Group) were selected. An amount of 10 mL of peripheral blood was collected by venipuncture and genomic DNA was extracted by the DTAB/CTAB method, followed by the polymerase chain reaction (PCR) under specific conditions for this polymorphism and by amplification by 2% agarose gel electrophoresis. The bands were visualized with an ultraviolet light transilluminator and the gels were photographed. Differences in the PROGINS genotype and allele frequencies between groups were analyzed by the χ2 test, with the level of significance set at p<0.05. The Odds Ratio (OR) was also used, with 95% confidence intervals 95%CI. RESULTS: PROGINS genotypic frequencies were 72.3% T1T1 and 27.7% T1T2 for the RSA group and 764% T1T1, 22.3% T1T2 and 1.3% T2T2 for the control group. There were no differecnes between groups when the genotype and allele frequencies were analyzed: respectively p=0.48 (OR: 0.8) and p=0.65 (OR: 0.9). CONCLUSIONS: our results suggest that PROGINS polymorphism is not associated with RSA.
Acesso aberto (Open Access)
Polimorfismos em genes de reparo do DNA (XPC, ERCC1, XRCC7) em mulheres com câncer do colo do útero
(Universidade Federal de São Paulo (UNIFESP), 2010-06-30) Saffar, Issamir Farias [UNIFESP]; Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
Estudos demonstram que polimorfismos em genes relacionados ao reparo do DNA estão envolvidos na patogênese de diversas doenças neoplásicas, como o câncer ginecológico, particularmente o câncer do colo do útero. O presente estudo, caso-controle, compara os polimorfismos dos genes XPC, ERCC1 e XRCC7 em 77 mulheres com câncer cervical (70 casos de carcinoma espinocelular e 7 casos de adenocarcinoma do colo do útero) e 73 mulheres saudáveis atendidas no Hospital do Câncer Alfredo Abrão, entre Junho de 2007 e Maio de 2009. No Laboratório de Ginecologia Molecular da EPM-UNIFESP, os polimorfismos desses genes foram detectados pela técnica de reação em cadeia da polimerase seguida da análise do polimorfismo do fragmento de restrição (PCR-RFLP). As distribuições genotípicas dos polimorfismos no grupo de casos e controle estavam em Equilíbrio de Hardy-Weinberg (p>0,05). Pelo teste exato de Fisher as distribuições genotípicas dos polimorfismos (XRCC7 (G-C): GG (11,7%), GC (41,6%) e CC (46,8%) no grupo de casos e GG (20,5%), GC (41,1%) e CC (38,4%) no grupo controle (p=0,31); ERCC1 (C-T): CC (39,0%), CT (51,9%) e TT (9,1%) no grupo de casos e CC (53,4%), CT (38,4%) e TT (8,2%) no grupo controle (p=0,20); XPC (A-C): AA (50,6%), AC (41,6%) e AA (7,8%) no grupo de casos e AA (45,2%), AC (37,0%) e CC (17,8%) no grupo controle, p=0,19) não apresentaram diferença estatística significante. Nossos resultados mostram que os polimorfismos XPC, ERCC1 e XRCC7 não são correlacionados ao risco para desenvolvimento do câncer do colo do útero na população estudada.
Acesso aberto (Open Access)
Pólipos endometriais na pós-menopausa: Aspectos clínicos, epidemiológicos e pesquisa do polimorfismo do receptor da progesterona (PROGINS)
(Universidade Federal de São Paulo (UNIFESP), 2009-08-26) Miranda, Simone Madeira Nunes [UNIFESP]; Girão, Manoel João Batista Castello [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
Purpose: To evaluate the genetic polymorphism of the progesterone receptor (PROGINS), as well as clinical and epidemiological risk factors for endometrial cancer in postmenopausal women with endometrial polyps. Methods: A case control study was designed with 154 postmenopausal women with endometrial polyps, compared to a normal control group of 400 postmenopausal women. The genotyping of PROGINS polymorphism was determined by polymerase chain reaction. The group of polyps was compared to 118 normal postmenopausal controls regarding clinical and epidemiological variables. These variables were also compared between benign and malignant endometrial polyps. Results: The epidemiological variables among the group of endometrial polyps and normal control, showed statistical significance (p<0,05) for age: media of 61,7 and 57,5 years, ethnicity non-white 44,8% and 22,9%, time since menopause media of 12,9 and 9,2 years, parity media of 4,5 and 3,4 sons, tamoxifen use 5,2% and 0%, hypertension 54,5% and 29,7% and history of breast cancer 10,4% and 0,8% respectively. After age adjust, statistical significance, remained only for parity (OR=1,13), hypertension (OR=2,19) and history of breast cancer (OR=14,44). Postmenopausal bleeding and large polyps were present in all cases of malignancy. Hypertension was also very frequent in malignant polyps (83,3% and 54,5% respectively). The presence of PROGINS had no statistical significance between the group of polyps and the normal control (N=400). The presence of wild homozygosis genotype, heterozygosis and mutant homozygosis was 79,9%, 19,5% and 0,6% respectively for the polyp group, and 78,8%, 20,8% and 0,5% for the control group (p=0,208). Conclusions: There was no significant association between the presence of PROGINS and endometrial polyps. After age adjust, epidemiological variables significantly associated to endometrial polyps were elderly age, parity, hypertension, and history of breast cancer (implicit tamoxifen use). Malignant polyps in this study were always associated to postmenopausal bleeding, large polyps and frequently associated to hypertension.

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