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| Registros recuperados: 14 | |
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| Souza,D.R.S.; De Godoy,M.R.; Hotta,J.; Tajara,E.H.; Brandão,A.C.; Pinheiro Júnior,S.; Tognola,W.A.; Dos Santos,J.E.. |
| The genetic basis for dementias is complex. A common polymorphism in the apolipoprotein E (APOE) gene is considered to be the major risk factor in families with sporadic and late-onset Alzheimer's disease as well as in the general population. The distribution of alleles and genotypes of the APOE gene in late-onset Alzheimer's disease (N = 68), other late-life dementias (N = 39), and in cognitively normal controls (N = 58) was determined, as also was the risk for Alzheimer's disease associated with the epsilon4 allele. Peripheral blood samples were obtained from a total of 165 individuals living in Brazil aged 65-82 years. Genomic DNA was amplified by the polymerase chain reaction and the products were digested with HhaI restriction enzyme. APOE epsilon2... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Alzheimer's disease; Vascular dementia; Dementia; Apolipoprotein E; Aging; Genetic polymorphisms. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000700013 |
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| Martins,D.M.F.; Vidal,F.C.B.; Souza,R.D.M.; Brusaca,S.A.; Brito,L.M.O.. |
| The CYP2D6 enzyme is crucial for the metabolism of tamoxifen. The CYP2D6 gene is highly polymorphic, and individuals can be extensive, intermediate, or poor tamoxifen metabolizers. The aim of this study was to determine the frequencies of the CYP2D6 *3, *4, and *10 alleles in women with breast cancer who were treated with tamoxifen and analyze the association of enzyme activity with prognostic factors and disease-free survival. We observed a high frequency of CYP2D6 *10, with an allelic frequency of 0.14 (14.4%). The *3 allele was not present in the studied population, and *4 had an allelic frequency of 0.13 (13.8%). We conclude that patients with reduced CYP2D6 activity did not present worse tumor characteristics or decreased disease-free survival than... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Tamoxifen; Cytochrome P450 2D6; Breast cancer; Genetic polymorphisms; Prognostic factors; Disease-free survival. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001101008 |
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| STERPONE,SILVIA; CORNETTA,TOMMASO; ANGIONI,ADRIANO; FISCARELLI,ERSILIA; LUCIDI,VINCENZINA; TESTA,ANTONELLA; COZZI,RENATA. |
| Cystic Fibrosis (CF) is an autosomal recessive multisystemic disorder showing a highly heterogeneous phenotype, even among siblings carrying identical CFTR mutations. Moreover, oxidative stress is of central importance in the pathogenesis of cystic fibrosis. The present study seeks to value the presence of oxidative damage in CF patients and the possible modifier effect of repair and glutathione-S-transferase genes. We analysed the presence of DNA damage in leukocytes of 63 CF patients at an Italian CF centre and 63 controls, through the alkaline Comet assay to detect DNA strand breaks. Furthermore, controls and 93 CF subjects were genotyped for 5 genes by RFLP-PCR (XRCC1,0GG1,GSTP1) and PCR assay (GSTM1, GSTT1). No difference in Comet assay values was... |
| Tipo: Journal article |
Palavras-chave: Comet assay; Cystic fibrosis; DNA damage; Genetic polymorphisms; Modifier genes. |
| Ano: 2009 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400009 |
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| LINHARES,JOSÉ JUVENAL; GUERREIRO DA SILVA,ISMAEL DALE COTRIM; NOGUEIRA DE SOUZA,NAIARA C; COELHO NORONHA,EMMANUELLE; FERRARO,ODAIR; DE CARVALHO,CRISTINA VALLETA; CHADA BARACAT,EDMUND; FARAH BARACAT,FAUSTO. |
| Due to the conflicting results regarding the association between breast cancerand the GSTM1 null mutation, our aim was to research this associationin a Brazilian population and correlations withsmoking, reproductive history and several clinical pathologies. A case-control study was performed on 105 women with breast cancer and 278 controls. Extraction of DNA was accomplished according to the protocol of the GFX® kit and polymorphism analysis by the PCR technique. The control and experimental groups were compared and statistical analysis assessed by X² or Fisher's exact test. The deletion in the GSTM1 gene in the breast cancer group had a prevalence of 32 (30.4%) individuals with the presence of null mutation. In the control group, the null mutation was... |
| Tipo: Journal article |
Palavras-chave: Breast cancer; Genetic polymorphisms; GSTM1. |
| Ano: 2005 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602005000200017 |
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| Zhang,Xiaoqing; Ao,Guokun; Wang,Yuewen; Yan,Wei; Wang,Min; Chen,Erfei; Yang,Fangfang; Yang,Jin. |
| In this report, we describe combined polymorphisms of the UGT1A9, UGT1A7 and UGT1A1 genes in 100 unrelated, healthy Chinese Han subjects. The functional regions of these genes were sequenced and comprehensively analyzed for genetic polymorphisms. Thirty variants were detected, including five novel forms. Tentative functional predictions indicated that a Cys → Arg substitution at position 277 in the UGT1A7 gene could alter the protein conformation and that 12460T > G in the 3'UTR might influence protein translation through specifically expressed miRNAs. UGT1A9*1b was a major functional variant in the subjects examined whereas the *1f allele had a frequency of only 0.5%. A special functional haplotype (GAGAAC) was identified for UGT1A9, 1A7 and 1A1. These... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Chinese Han; Genetic polymorphisms; Haplotype; UGT1A. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300008 |
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| Queiroz,E.M.; Cândido,A.P.C.; Castro,I.M.; Bastos,A.Q.A.; Machado-Coelho,G.L.L.; Freitas,R.N.. |
| Association studies of genetic variants and obesity and/or obesity-related risk factors have yielded contradictory results. The aim of the present study was to determine the possible association of five single-nucleotide polymorphisms (SNPs) located in the IGF2, LEPR, POMC, PPARG, and PPARGC1 genes with obesity or obesity-related risk phenotypes. This case-control study assessed overweight (n=192) and normal-weight (n=211) children and adolescents. The SNPs were analyzed using minisequencing assays, and variables and genotype distributions between the groups were compared using one-way analysis of variance and Pearson's chi-square or Fisher's exact tests. Logistic regression analysis adjusted for age and gender was used to calculate the odds ratios (ORs)... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Association study; Obesity; Genetic polymorphisms; Brazilian population. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2015000700595 |
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| Biolo,A.; Salvaro,R.; Clausell,N.; Silvello,D.; Santos,K.G.; Rohde,L.E.. |
| Genetic polymorphisms of adrenergic receptors (ARs) have been associated with the development, progression, and prognosis of patients with heart failure (HF), with few data for the Brazilian population. We evaluated the role of the β2-AR Thr164Ile polymorphism at codon 164 on prognosis in a prospective study on 315 adult Brazilian HF patients, predominantly middle-aged Caucasian men in functional class I-II, with severe left ventricular systolic dysfunction. Genomic DNA was extracted from peripheral blood and β2-AR164 genotypes were detected by PCR followed by restriction fragment length analysis. During a median follow-up of 3 years, 95 deaths occurred and 57 (60%) were HF-related. Unexpectedly, Ile164 carriers (N = 12) had no HF-related events (log-rank... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Heart failure; Adrenergic receptors; Genetic polymorphisms; Prognosis. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000600007 |
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| Ribeiro,D.M.; Zaccariotto,T.R.; Santos,M.N.N.; Costa,F.F.; Sonati,M.F.. |
| The α-MRE is the major regulatory element responsible for the expression of human α-like globin genes. It is genetically polymorphic, and six different haplotypes, named A to F, have been identified in some population groups from Europe, Africa and Asia and in native Indians from two Brazilian Indian tribes. Most of the mutations that constitute the α-MRE haplotypes are located in flanking sequences of binding sites for nuclear factors. To our knowledge, there are no experimental studies evaluating whether such variability may influence the α-MRE enhancer activity. We analyzed and compared the expression of luciferase of nine constructs containing different α-MRE elements as enhancers. Genomic DNA samples from controls with A (wild-type α-MRE) and B... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Alpha-major regulatory element; HS-40; Alpha-globin genes; Genetic polymorphisms; Gene expression. |
| Ano: 2009 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000900002 |
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| SALZANO,FRANCISCO M.. |
| A review was made in relation to the molecular variability present in North, Central, and South American Indian populations. It involved results from ancient DNA, mitochondrial DNA in extant populations, HLA and other autosomal markers, X and Y chromosome variation, as well as data from parasitic viruses which could show coevolutionary changes. The questions considered were their origin, ways in which the early colonization of the continent took place, types and levels of the variability which developed, peculiarities of the Amerindian evolutionary processes, and eventual genetic heterogeneity which evolved in different geographical areas. Although much information is already available, it is highly heterogeneous in relation to populations and types of... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Amerindians; Genetic polymorphisms; Population genetic variability; Human microevolution. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652002000200005 |
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| Giacomazzi,J.; Aguiar,E.; Palmero,E.I.; Schmidt,A.V.; Skonieski,G.; Filho,D.D.; Bock,H.; Saraiva-Pereira,M.L.; Ewald,I.P.; Schuler-Faccini,L.; Camey,S.A.; Caleffi,M.; Giugliani,R.; Ashton-Prolla,P.. |
| Polymorphisms of hormone receptor genes have been linked to modifications in reproductive factors and to an increased risk of breast cancer (BC). In the present study, we have determined the allelic and genotypic frequencies of the ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms and investigated their relationship with mammographic density, body mass index (BMI) and other risk factors for BC. A consecutive and unselected sample of 750 Brazilian BC-unaffected women enrolled in a mammography screening program was recruited. The distribution of PGR PROGINS genotypic frequencies was 72.5, 25.5 and 2.0% for A1A1, A1A2 and A2A2, respectively, which was equivalent to that encountered in other studies with healthy women. The distribution of ERα... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genetic polymorphisms; Estrogen receptor gene; Progesterone receptor gene; Breast cancer susceptibility. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012001000002 |
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| Pena,S.D.J.. |
| Personalized pharmacogenomics aims to use individual genotypes to direct medical treatment. Unfortunately, the loci relevant for the pharmacokinetics and especially the pharmacodynamics of most drugs are still unknown. Moreover, we still do not understand the role that individual genotypes play in modulating the pathogenesis, the clinical course and the susceptibility to drugs of human diseases which, although appearing homogeneous on the surface, may vary from patient to patient. To try to deal with this situation, it has been proposed to use interpopulational variability as a reference for drug development and prescription, leading to the development of "race-targeted drugs". Given the present limitations of genomic knowledge and of the tools needed to... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: DNA; Genetic polymorphisms; Human genomic variability; Race; Pharmacogenomics. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000400001 |
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| Registros recuperados: 14 | |
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