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‣ Prognostic value of TP53 Pro47Ser and Arg72Pro single nucleotide polymorphisms and the susceptibility to gliomas in individuals from Southeast Brazil

PINTO, G. R.; YOSHIOKA, F. K. N.; SILVA, R. L. L.; CLARA, C. A.; SANTOS, M. J.; ALMEIDA, J. R. W.; BURBANO, R. R.; REY, J. A.; CASARTELLI, C.
Fonte: FUNPEC-EDITORA Publicador: FUNPEC-EDITORA
Tipo: Artigo de Revista Científica
Português
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The TP53 tumor suppressor gene codifies a protein responsible for preventing cells with genetic damage from growing and dividing by blocking cell growth or apoptosis pathways. A common single nucleotide polymorphism (SNP) in TP53 codon 72 (Arg72Pro) induces a 15-fold decrease of apoptosis-inducing ability and has been associated with susceptibility to human cancers. Recently, another TP53 SNP at codon 47 (Pro47Ser) was reported to have a low apoptosis-inducing ability; however, there are no association studies between this SNP and cancer. Aiming to study the role of TP53 Pro47Ser and Arg72Pro on glioma susceptibility and oncologic prognosis of patients, we investigated the genotype distribution of these SNPs in 94 gliomas (81 astrocytomas, 8 ependymomas and 5 oligodendrogliomas) and in 100 healthy subjects by the polymerase chain reaction-restriction fragment length polymorphism approach. Chi-square and Fisher exact test comparisons for genotype distributions and allele frequencies did not reveal any significant difference between patients and control groups. Overall and disease-free survivals were calculated by the Kaplan-Meier method, and the log-rank test was used for comparisons, but no significant statistical difference was observed between the two groups. Our data suggest that TP53 Pro47Ser and Arg72Pro SNPs are not involved either in susceptibility to developing gliomas or in patient survival...

‣ Human leukocyte antigen (HLA) and single nucleotide polymorphisms (SNPs) tumor necrosis factor (TNF)-alpha-238 and-308 as genetic markers of susceptibility to psoriasis and severity of the disease in a long-term follow-up Brazilian study

MAGALHAES, Renata Ferreira; BIRAL, Ana Cristina; PANCOTO, Joao Alexandre Tres; DONADI, Eduardo Antonio; MENDES-JUNIOR, Celso Texeira; MAGNA, Luis Antonio; KRAEMER, Maria Helena
Fonte: WILEY-BLACKWELL Publicador: WILEY-BLACKWELL
Tipo: Artigo de Revista Científica
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Background The strongest genetic marker for psoriasis is Cw*06. Polymorphisms in the tumor necrosis factor (TNF)-alpha promoter region, especially replacement of guanine with adenine in positions -238 and -308 are related to higher TNF-alpha production and higher risk for psoriasis in Caucasoid populations, not found in Asians. We performed a case-control study of 69 patients with psoriasis type I and 70 controls, characterized clinical progression along 10-years of follow-up in mild or severe disease and determined HLA class I, II, and TNF single nucleotide polymorphisms (SNPs) -238 and -308 polymorphisms to demonstrate whether these polymorphisms may be genetic risk for susceptibility to psoriasis or severity of the disease in Brazilians. Methods Polymorphisms were identified using PCR/SSP. Alleles, genotypes, and haplotypes frequencies were compared using Fisher`s test. Results More severe disease was found in male patients. It may be suggested that alleles B*37, Cw*06, Cw*12, and DRB1*07 were associated with severe disease course, while B*57 with mild disease. No statistical difference was found between the patients and controls regarding polymorphisms frequencies in TNF SNPs. This study pointed to a higher TNF-238 G/G genotype frequency (OR: 3.21; CI: 1.06-9.71; P = 0.04) in the group with severe disease. Conclusions Polymorphisms in the TNF-alpha SNPs do not seem to be a more important genetic risk factor for psoriasis than the already known Cw*06 in Brazilian patients...

‣ Development of new nuclear markers and characterization of single nucleotide polymorphisms in kelp gull (Larus dominicanus)

DANTAS, Gisele Pires de Mendonca; GODINHO, Raquel; MORGANTE, Joao Stenghel; FERRAND, Nuno
Fonte: WILEY-BLACKWELL PUBLISHING, INC Publicador: WILEY-BLACKWELL PUBLISHING, INC
Tipo: Artigo de Revista Científica
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The present study seeks to develop nuclear markers for the kelp gull (Larus dominicanus). We hereby report the characterization of 12 independent nuclear introns, where 104 single nucleotide polymorphisms (SNPs) in 8138 sequenced base pairs were observed. These SNP markers are the first to be designed for genotyping a gull species. The markers will provide useful tools for understanding which processes act or acted upon kelp gulls to cause their low genetic variability in mitochondrial DNA. In addition, these markers open a new opportunity for population genetic and evolutionary studies in the Laridae group.; CIBIO-UP; CIBIO-UP; Capes (Coordenacao de Aperfeicoamento do Ensino Superior, PDEE programme); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); FAPESP (Fundacao de Amparo a Pesquisa de Sao Paulo); [SFRH/BPD/12723/e2003]; [SFRH/BPD/36021/e2007]

‣ Associations of the TNF-alpha-308 G/A, IL6-174 G/C and AdipoQ 45 T/G polymorphisms with inflammatory and metabolic responses to lifestyle intervention in Brazilians at high cardiometabolic risk

Curti, Maira L. R.; Pires, Milena M.; Barros, Camila R.; Siqueira-Catania, Antonela; Rogero, Marcelo Macedo; Ferreira, Sandra R. G.
Fonte: BIOMED CENTRAL LTD; LONDON Publicador: BIOMED CENTRAL LTD; LONDON
Tipo: Artigo de Revista Científica
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Background: Cytokines secreted by the adipose tissue influence inflammation and insulin sensitivity, and lead to metabolic disturbances. How certain single-nucleotide polymorphisms (SNPs) interfere on lifestyle interventions is unclear. We assessed associations of selected SNPs with changes induced by a lifestyle intervention. Methods: This 9-month intervention on diet and physical activity included 180 Brazilians at high cardiometabolic risk, genotyped for the TNF-alpha -308 G/A, IL-6 -174 G/C and AdipoQ 45 T/G SNPs. Changes in metabolic and inflammatory variables were analyzed according to these SNPs. Individuals with at least one variant allele were grouped and compared with those with the reference genotype. Results: In the entire sample (66.7% women; mean age 56.5 +/- 11.6 years), intervention resulted in lower energy intake, higher physical activity, and improvement in anthropometry, plasma glucose, HOMA-IR, lipid profile and inflammatory markers, except for IL-6 concentrations. After intervention, only variant allele carriers of the TNF-alpha -308 G/A decreased plasma glucose, after adjusting for age and gender (OR 2.96, p = 0.025). Regarding the IL-6 -174 G/C SNP, carriers of the variant allele had a better response of lipid profile and adiponectin concentration...

‣ Influência do transplante renal e de polimorfismos genéticos nos níveis de proteína C reativa em pacientes com doença renal crônica; Influence of kidney transplantation and single-nucleotide polymorphisms on C - reactive protein levels in chronic kidney disease patients

Silva Junior, Antonio Carlos Cordeiro
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 21/01/2008 Português
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Avaliamos a influência do transplante renal (Tx) e de "polimorfismos de nucleotídeos isolados" (SNPs), na região promotora do gen codificador da proteína C reativa, sob os níveis de PCR, em 50 pacientes com doença renal crônica em terapia dialítica. Os níveis de PCR foram avaliados no período pré-Tx, no primeiro e segundo anos pós-Tx. Inicialmente, os pacientes foram divididos em três grupos de acordo com os percentis (25, 50 e 75) dos níveis de PCR no período pré-Tx. Em seguida, avaliamos os genótipos para 2 SNPs, um bi-alélico na posição -409 (G->A) e um tri-alélico (C->T->A) na posição -390. Na análise geral os níveis de PCR decresceram significativamente no primeiro ano pós-Tx e tiveram uma elevação, não significativa, no segundo ano após o transplante. Após a divisão por percentis, observamos que nos pacientes cujos níveis de PCR se situavam dentro da normalidade (percentis 25 e 50), este marcador se manteve estável ao longo do estudo, enquanto houve uma significativa e progressiva redução dos níveis de PCR, pós-Tx, nos pacientes do percentil 75 (p=0,002). Todos os pacientes apresentaram o genótipo -409GG, quando avaliados para o SNP nesta posição. Quando avaliados para a posição -390...

‣ Estudo de polimorfismos de nucleotídeo único em genes de receptores Toll-like em pacientes com líquen plano oral e pacientes com carcinoma epidermóide de boca; Toll-like receptor single nucleotide polymorphisms in patients with oral lichen planus and oral squamous cell carcinoma

Gallo, Camila de Barros
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 17/10/2012 Português
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Polimorfismos em genes de receptores Toll-like (TLR) podem modular o risco de desenvolvimento de infecção, inflamação crônica e câncer. O objetivo deste estudo foi investigar a associação de polimorfismos em TLR ao risco aumentado de desenvolvimento de câncer de cabeça e pescoço, o carcinoma epidermóide (CEC) de boca e de laringe, e lesões bucais com potencial de transformação maligna, como o líquen plano oral (LPO), incluindo lesões idiopáticas e lesões liquenóides (LLO). Para tal foi conduzido um estudo caso-controle com 40 pacientes com CEC de boca, 35 com CEC de laringe, 175 com LPO (129 idiopático e 46 LLO) e 89 controles saudáveis, todos de origem basca. Oito SNP nos TLR1, TLR2, TLR4, TLR6, TLR9 e TLR10 foram genotipados por ensaios TaqMan® ou pirosequenciamento. A análise estatística por meio do teste qui-quadrado mostrou que a variante A, para o SNP TLR2-rs4696480 aumentou significativamente o risco para o desenvolvimento de CEC de boca (p=0.03) e LLO (p=0.0223). O genótipo AT representa risco de desenvolvimento de CEC de boca aumentado em 5.3 vezes quando comparado ao genótipo TT (OR=5.3, IC95%=1.19-13.63), e genótipo AA em 6.6 vezes (OR=6.6, IC95%=1.30-33.89). Quanto ao desenvolvimento de LLO, o genótipo AT representa um aumento no risco de 4.6 vezes comparado ao genótipo TT (OR=4.6...

‣ Associação de polimorfismos em um único nucleotídeo nos genes GPX4,CYBB, CYBA, CAT e SLC2A2 e a susceptibilidade à doença renal crônica em coortes brasileira e francesas de portadores de diabetes mellitus tipo 1; Association of single nucleotide polymorphisms in the genes GPX4, CYBB, CYBA, CAT e SLC2A2 and the susceptibility to chronic kidney disease in Brazilian and French cohorts of type 1 diabetes mellitus patients

Patente, Thiago Andrade
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 18/07/2014 Português
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A nefropatia diabética (ND) é uma das principais causas de nefropatia crônica, o que torna o diabetes mellitus (DM) responsável por 44% da prevalência de doença renal crônica (DRC) no mundo. O papel do estresse oxidativo na patogênese da ND está bem estabelecido e genes pertencentes a vias pró- e antioxidantes são possíveis candidatos a conferirem susceptibilidade genética a essa e a outras complicações crônicas. Além do estresse oxidativo, o transporte intracelular de glicose, mediado por transportadores específicos, também parece exercer influência sobre a ND e outras complicações. O objetivo deste trabalho foi avaliar a associação entre ND e alguns polimorfismos de um único nucleotídeo (SNPs) em genes que codificam proteínas transportadoras de glicose (GLUT2 [SLC2A2]), proteínas pró-oxidantes (p22phox [CYBA] e NOX-2 [CYBB]) e proteínas antioxidantes (glutationa peroxidase-4 [GPX4] e catalase [CAT]) em uma coorte brasileira (n=453; 45,8% de pacientes com ND) e três coortes francesas (SURGENE [n=340; 17,7% de pacientes com ND na fase basal], GENEDIAB [n=313; 66,7% de pacientes com ND] e GENESIS [n=636; 49,7% de pacientes com ND]) de pacientes portadores de DM tipo 1. Os SNPs foram genotipados com o uso da técnica de reação em cadeia da polimerase (PCR) em tempo real e os resultados expressos em odds ratio (OR) ou hazard ratio (HR)...

‣ Single nucleotide polymorphisms in candidate genes associated with gastrointestinal nematode infection in goats

Bressani, F. A.; Tizioto, P. C.; Giglioti, R.; Meirelles, S. L. C.; Coutinho, R.; Benvenuti, C. L.; Malago-, W.; Mudadu, M. A.; Vieira, L. S.; Zaros, L. G.; Carrilho, E.; Regitano, L. C. A.
Fonte: Funpec-editora Publicador: Funpec-editora
Tipo: Artigo de Revista Científica Formato: 8530-8536
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Cytokines are small cell-signaling proteins that play an important role in the immune system, participating in intracellular communication. Four candidate genes of the cytokine family (IL2, IL4, IL13, and IFNG) were selected to identify Single Nucleotide Polymorphisms (SNPs) that might be associated with resistance to gastrointestinal endoparasites in goats. A population of 229 goats, F2 offspring from an F1 intercross was produced by crossing pure Saanen goats, considered as susceptible to gastrointestinal endoparasites, with pure Anglo-Nubian goats, considered resistant. Blood was collected for DNA extraction and fecal samples were also collected for parasite egg count. Polymorphisms were prospected by sequencing animals with extreme phenotype for fecal egg count (FEC) distribution. The association between SNPs and phenotype was determined by using the Fisher exact test with correction for multiple tests. Three of the 10 SNPs were identified as significant (P <= 0.03). They were found in intron 1 of IL2 (ENSBTA00000020883)...

‣ Single nucleotide polymorphisms in the interferon gamma gene are associated with distinct types of retinochoroidal scar lesions presumably caused by Toxoplasma gondii infection

Peixe,Ricardo Guerra; Boechat,Marcela Santana Bastos; Rangel,Alba Lucinia Peixoto; Rosa,Rhônia França Gomes; Petzl-Erler,Maria Luiza; Bahia-Oliveira,Lilian MG
Fonte: Instituto Oswaldo Cruz, Ministério da Saúde Publicador: Instituto Oswaldo Cruz, Ministério da Saúde
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/02/2014 Português
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The association of single nucleotide polymorphisms (SNPs) in the interferon (IFN)-γ gene ( IFNG ) with different types of retinal scar lesions presumably caused by toxoplasmosis were investigated in a cross-sectional population-based genetic study. Ten SNPs were investigated and after Bonferroni correction, only the associations between SNPs rs2069718 and rs3181035 with retinal/retinochoroidal scar lesions type A (most severe scar lesions) and C (least severe scar lesions), respectively, remained significant. The associations of two different IFNG SNPs with two different types of retinal lesions attributable to toxoplasmosis support the hypothesis that different inflammatory mechanisms underlie the development of these lesions. The in vitro analysis of IFN-γ secretion by peripheral blood mononuclear cells stimulated with Toxoplasma gondii antigens was also investigated. The association between SNP rs2069718 and type A scar lesions revealed that differential IFN-γ levels are correlated with distinct genotypes. However, no correlation was observed with IFN-γ secretion levels and the SNP rs3181035 , which was significantly associated with type C scar lesions. Our findings strongly suggest that immunogenetic studies of individuals with congenital or postnatally acquired infection are needed to better understand the role of IFN-γ and its polymorphisms in the pathogenesis of ocular toxoplasmosis.

‣ Single nucleotide polymorphisms predisposing to asthma in children of Mauritian Indian and Chinese Han ethnicity

Ramphul,K.; Lv,J.; Hua,L.; Liu,Q.H.; Fang,D.Z.; Ji,R.X.; Bao,Y.X.
Fonte: Associação Brasileira de Divulgação Científica Publicador: Associação Brasileira de Divulgação Científica
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/05/2014 Português
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Our objective was to investigate the distributions of six single nucleotide polymorphisms (SNPs) MS4A2 E237G, MS4A2 C-109T, ADRB2 R16G, IL4RA I75V, IL4 C-590T, and IL13 C1923T in Mauritian Indian and Chinese Han children with asthma. This case-control association study enrolled 382 unrelated Mauritian Indian children, 193 with asthma and 189 healthy controls, and 384 unrelated Chinese Han children, 192 with asthma and 192 healthy controls. The SNP loci were genotyped using polymerase chain reaction (PCR)-restriction fragment length polymorphism for the Chinese Han samples and TaqMan real-time quantitative PCR for the Mauritian Indian samples. In the Mauritian Indian children, there was a significant difference in the distribution of IL13 C1923T between the asthma and control groups (P=0.033). The frequency of IL13 C1923T T/T in the Mauritian Indian asthma group was significantly higher than in the control group [odds ratio (OR)=2.119, 95% confidence interval=1.048-4.285]. The Chinese Han children with asthma had significantly higher frequencies of MS4A2 C-109T T/T (OR=1.961, P=0.001) and ADRB2 R16G A/A (OR=2.575, P=0.000) than the control group. The IL13 C1923T locus predisposed to asthma in Mauritian Indian children, which represents an ethnic difference from the Chinese Han population. The MS4A2 C-109T T/T and ADRB2 R16G A/A genotypes were associated with asthma in the Chinese Han children.

‣ A likelihood ratio test for detection of single nucleotide polymorphisms (SNPs)

Sheikhi, Ali; Ramsey, David
Fonte: IWSM Publicador: IWSM
Tipo: info:eu-repo/semantics/conferenceObject; all_ul_research; ul_published_reviewed
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peer-reviewed; A single nucleotide polymorphism or SNP is a site of the genome where variation occurs within a population. Almost all SNPs have only two alleles (variants). In this work, we consider a statistical method based on a likelihood ratio test to detect these SNPs. We will also present some initial results of the analysis of real genome sequence data.

‣ Optimal DNA pooling for the detection of single nucleotide polymorphisms

Ramsey, David; Futschik, Andreas
Fonte: IWSM Publicador: IWSM
Tipo: info:eu-repo/semantics/conferenceObject; all_ul_research; ul_published_reviewed
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peer-reviewed; We consider the optimal pooling of DNA to detect single nucleotide polymorphisms (SNPs), sites along the genome at which a population shows variation. The focus is on the detection of low frequency variants. Pooling individuals increases the probability that a rare variant appears in the sample. However, as the pool size increases, the mean number of reads from an individual decreases, making it harder to distinguish reads of a rare variant from errors. A hypothesis test for the detection of SNPs is defined. On the basis of this test, we determine the asymptotically optimal pool size given the parameters of the genome sequencer used, the number of lanes available and a specified significance level.

‣ Statistical tests for the detection of single nucleotide polymorphisms using DNA pooling

Ramsey, David; Futschik, Andreas
Fonte: Internaitonal Statistical Institute Publicador: Internaitonal Statistical Institute
Tipo: info:eu-repo/semantics/conferenceObject; all_ul_research; ul_published_reviewed
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peer-reviewed; An important problem in genetics is detecting single nucleotide polymorphisms (SNPs), sites along the genome at which a population shows variation. The focus is on the detection of rare variants. Pooling individuals allows us to increase the probability that a rare variant appears in the sample. However, as the pool size increases, the mean number of reads from an individual decreases, making it harder to distinguish reads of a rare variant from errors. This paper compares three statistical tests for detecting SNPs using data from pooled DNA samples.

‣ X-linked inhibitor of apoptosis single nucleotide polymorphisms and copy number variation are not risk factors for asthma

Roscioli, E.; Hamon, R.; Ruffin, R.; Zalewski, P.; Grant, J.; Lester, S.
Fonte: Blackwell Publishing Asia Publicador: Blackwell Publishing Asia
Tipo: Artigo de Revista Científica
Publicado em //2013 Português
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Background and objective: Aberrant apoptosis in asthma contributes to airway inflammation. Early apoptosis and fragility of airway epithelial cells and delayed apoptosis of inflammatory lymphocytes can cooperate to increase airway inflammation. In this study, single nucleotide polymorphisms (SNPs) and copy number variation (CNV) in the Baculoviral inhibitor of apoptosis protein repeat-containing 4 (BIRC4) gene (which encodes X-linked inhibitor of apoptosis protein) were evaluated for associations with asthma. Methods: Asthma cases (n = 203) were identified from Caucasian cohort participants in the North West Adelaide Health Study and matched with 198 controls. Asthma status was defined using self-report of doctor-diagnosed asthma, in conjunction with spirometry and bronchodilator response. Seven SNPs, which spanned the entire BIRC4 gene, were selected for the study on the basis of a haplotype tagging approach. SNPs genotyping was performed on the SEQUENOM MassARRAY iPLEX Gold platform, and genotyping success rate was > 98%. BIRC4 gene CNV was measured using a duplex Taqman qPCR assay, with RNAseP as the reference gene. Alleles and haplotype associations were analysed by logistic regression, assuming an additive genetic model...

‣ Untersuchung von Einzelbasensubstitutionen (SNPs) in Toll-like-Rezeptor-Genen mittels LightCycler Technologie bei Patienten nach allogener Knochenmark- oder Stammzelltransplantation im Zusammenhang mit der Analyse klinischer Risikofaktoren für eine C; Analysis of single nucleotide polymorphisms (SNPs) in toll like receptor genes by LightCycler technique in patients after allogeneic bone marrow or stem cell transplantation in correlation with the examination of clinical risk factors for cytomegalov

Semmler, Claudia
Fonte: Universidade de Tubinga Publicador: Universidade de Tubinga
Tipo: Dissertação
Português
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In dieser Arbeit wurde der Zusammenhang zwischen der Verteilung von definierten SNPs in den Toll-like-Rezeptoren 3, 8 und 9 und dem Risiko einer CMV-Reaktivierung bzw. Erkrankung nach allogener Stammzelltransplantation untersucht. Toll-like-Rezeptoren erkennen krankheitsassoziierte molekulare Muster. Sie sind an der Immunabwehr von Mikroorganismen und Viren beteiligt. TLR 3 erkennt doppelsträngige virale RNA, TLR 8 einzelsträngige RNA und TLR 9 agiert mit unmethylierten CpG-Motiven. Infektionen, die durch das Cytomegalievirus verursacht werden, stellen für Patienten nach Stammzelltransplantation trotz Fortschritten in Diagnostik und Therapie nach wie vor eine schwere Komplikation dar. Als Methode, die DNA auf Einzelbasensubstitutionen zu untersuchen, wurde die Schmelzkurvenanalyse mittels LightCycler Technologie gewählt. Sie zeichnet sich durch ihre einfache, genaue und reproduzierbare Art aus. Es wurden folgende für die SNPs spezifische Sonden hergestellt: rs5743318, rs3775291 (tlr3), rs2407992, rs3764880, rs3747414 (tlr8) und rs352140 (tlr9). Alle SNPs sind in Exons lokalisiert, rs5743318, rs3775291 und rs3764880 führen zu einem Aminosäureaustausch. Es wurden 95 Patienten mit CMV Reaktivierung, 26 Patienten mit einer CMV Erkrankung und 51 Patienten ohne CMV Reaktivierung untersucht. Es ergab sich kein signifikanter Unterschied in der SNP Häufigkeit für tlr3 und tlr9 zwischen Patienten mit und ohne CMV Reaktivierung. Die SNPs rs3764880...

‣ Risikostratifizierung des plötzlichen Herztodes mit Hilfe genetischer Einzelbasenpolymorphismen im Apelin- und Angiotensinogen-Gen; Risk stratification of sudden cardiac death with single nucleotide polymorphisms within the Apelin- and Angiotensinogen-gene

Beckert, Conrad
Fonte: Universidade de Tubinga Publicador: Universidade de Tubinga
Tipo: Dissertação
Português
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Der plötzliche Herztod (SCD) gehört zu den häufigsten Todesursachen in industrialisierten Ländern und wird mit dem zunehmenden Altersdurchschnitt und geänderten Lebensstil der Bevölkerung immer mehr an Bedeutung gewinnen. Der implantierbare Kardioverter/Defibrillator (ICD) hat sich in der Sekundärprophylaxe (erfolgreiche Reanimation nach Herzkreislaufstillstand durch Kammerflimmern bzw. ventrikuläre Tachyarrhythmien) gegenüber konservativen Maßnahmen durch überlegene Ergebnisse durchsetzen können und ist in der klinischen Routine etabliert. Die Primärprophylaxe des SCD jedoch stellt den Kliniker vor eine große medizinische und gesundheitspolitische Herausforderung. Auf der einen Seite müssen möglichst viele Patienten mit hohem Risiko identifiziert werden, damit sie einer ICD-Therapie zugeführt werden können. Andererseits ist es auf Grund von Komplikationen, welche im Zuge der Implantation und des laufenden Betriebs auftreten können sowie des in der heutigen Zeit nicht unbedeutenden Kostenaspektes wichtig, nur solche Patienten herauszufiltern, welche mit hoher Wahrscheinlichkeit vom ICD profitieren. Der Arzt sieht sich einer Vielzahl an invasiv und nicht-invasiv zu bestimmenden Markern zur Risikostratifikation gegenüber. In die Routine haben jedoch außer der LVEF nur wenige Marker Einzug gefunden. Ziel dieser Arbeit ist es...

‣ Single nucleotide polymorphisms in DNA repair genes as risk factors associated to prostate cancer progression

Henr??quez-Hern??ndez, Luis Alberto; Valenciano, Almudena; Foro-Arnalot, Palmira; ??lvarez-Cubero, Mar??a Jes??s; C??zar Olmo, Jos?? Manuel; Su??rez-Novo, Jos?? Francisco; Castells-Esteve, Manel; Fern??ndez-Gonzalo, Pablo; De-Paula-Carranza, Bel??n; Ferre
Fonte: Biomed Central Publicador: Biomed Central
Tipo: Artigo de Revista Científica
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Background Besides serum levels of PSA, there is a lack of prostate cancer specific biomarkers. It is need to develop new biological markers associated with the tumor behavior which would be valuable to better individualize treatment. The aim of this study was to elucidate the relationship between single nucleotide polymorphisms (SNPs) in genes involved in DNA repair and prostate cancer progression.; Methods A total of 494 prostate cancer patients from a Spanish multicenter study were genotyped for 10 SNPs in XRCC1, ERCC2, ERCC1, LIG4, ATM and TP53 genes. The SNP genotyping was made in a Biotrove OpenArray?? NT Cycler. Clinical tumor stage, diagnostic PSA serum levels, and Gleason score at diagnosis were obtained for all participants. Genotypic and allelic frequencies were determined using the web-based environment SNPator.; Results SNPs rs11615 (ERCC1) and rs17503908 (ATM) appeared as risk factors for prostate cancer aggressiveness. Patients wild homozygous for these SNPs (AA and TT, respectively) were at higher risk for developing cT2b ??? cT4 (OR???=???2.21 (confidence interval (CI) 95% 1.47 ??? 3.31), p???

‣ Genetic association of single nucleotide polymorphisms in dystrobrevin binding protein 1 gene with schizophrenia in a Malaysian population

Tan,Grace Kang Ning; Tee,Shiau Foon; Tang,Pek Yee
Fonte: Sociedade Brasileira de Genética Publicador: Sociedade Brasileira de Genética
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2015 Português
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Dystrobrevin binding protein 1 (DTNBP1) gene is pivotal in regulating the glutamatergic system. Genetic variants of the DTNBP1 affect cognition and thus may be particularly relevant to schizophrenia. We therefore evaluated the association of six single nucleotide polymorphisms (SNPs) with schizophrenia in a Malaysian population (171 cases; 171 controls). Associations between these six SNPs and schizophrenia were tested in two stages. Association signals with p < 0.05 and minor allele frequency > 0.05 in stage 1 were followed by genotyping the SNPs in a replication phase (stage 2). Genotyping was performed with sequenced specific primer (PCR-SSP) and restriction fragment length polymorphism (PCR-RFLP). In our sample, we found significant associations between rs2619522 (allele p = 0.002, OR = 1.902, 95%CI = 1.266 – 2.859; genotype p = 0.002) and rs2619528 (allele p = 0.008, OR = 1.606, 95%CI = 1.130 – 2.281; genotype p = 6.18 × 10−5) and schizophrenia. Given that these two SNPs may be associated with the pathophysiology of schizophrenia, further studies on the other DTNBP1 variants are warranted.

‣ Functional analysis of single nucleotide polymorphisms in the proximal promoter regions of the multidrug transporter genes MRP1/ABCC1 and MRP4/ABCC4

Chan,Yuen Man
Fonte: Quens University Publicador: Quens University
Tipo: Tese de Doutorado Formato: 2577915 bytes; application/pdf
Português
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The ATP-binding cassette (ABC) transporter superfamily consists of 49 members, to which both Multidrug Resistance Protein 1 (MRP1/gene symbol: ABCC1) and MRP4 (ABCC4) belong. Single nucleotide polymorphisms (SNPs) in drug metabolizing genes have been shown to affect individual responses to drugs and toxins. However, the role of SNPs in modulating the activity of drug transporters, such as MRP1 and MRP4, is poorly characterized. The overall goal of my thesis was to determine the effects of SNPs in the promoter regions of human ABCC1 and ABCC4. For MRP1/ABCC1, two proximal promoter SNPs (-275A>G, -260G>C) were identified in the literature and recreated in vitro, and the activity of the mutant ABCC1 promoter constructs was measured in five human cell lines using a dual luciferase assay. The activity of the -275A>G promoter was comparable to the wild-type ABCC1 promoter. On the other hand, the -260G>C substitution decreased ABCC1 promoter activity in HepG2, MCF-7 and HeLa (40 - 60%) cells. A 1706 bp fragment containing the 5’-flanking and untranslated regions of ABCC4 were isolated from two bacterial artificial chromosome clones and six serially deleted ABCC4 promoter reporter constructs generated. Luciferase assays of the basal promoter constructs of ABCC4 in HEK293T cells revealed the presence of one or more negative regulatory regions between -1706 and -876...

‣ Development and use of single nucleotide polymorphism markers for candidate resistance genes in wild peanuts (Arachis spp)

Alves, Dione Mendes Teixeira; Pereira, Rinaldo Wellerson; Leal-Bertioli, Soraya Cristina de Macedo; Moretzsohn, Márcio de Carvalho; Guimarães, Patrícia M.; Bertioli, David John
Fonte: Universidade Católica de Brasília Publicador: Universidade Católica de Brasília
Tipo: Artigo de Revista Científica Formato: Texto
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The cultivated peanut (Arachis hypogaea L.) is an al¬lotetraploid of recent origin, with an AABB genome and low genetic diversity. Perhaps because of its limited genetic diversity, this spe¬cies lacks resistance to a number of important pests and diseases. In contrast, wild species of Arachis are genetically diverse and are rich sources of disease resistance genes. Consequently, a study of wild peanut relatives is attractive from two points of view: to help un¬derstand peanut genetics and to characterize wild alleles that could confer disease resistance. With this in mind, a diploid population from a cross between two wild peanut relatives was developed, in order to make a dense genetic map that could serve as a reference for pea-nut genetics and in order to characterize the regions of the Arachis genome that code for disease resistance. We tested two methods for developing and genotyping single nucleotide polymorphisms in can¬didate genes for disease resistance; one is based on single-base primer extension methods and the other is based on amplification refractory mutation system-polymerase chain reaction. We found single-base pair extension to be an efficient method, suitable for high-throughput, single-nucleotide polymorphism mapping; it allowed us to locate five candidate genes for resistance on our genetic map.