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Registros recuperados: 30 | |
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Marchini,J.F.M.; Pinto,M.R.; Novaes,G.C.; Badran,A.V.; Pavão,R.B.; Figueiredo,G.L.; Lago,I.M.; Lima-Filho,M.O.; Lemos,D.C.; Tonani,M.; Antloga,C.M.; Oliveira,L.; Lorenzi,J.C.; Marin-Neto,J.A.. |
Clopidogrel and aspirin are the most commonly used medications worldwide for dual antiplatelet therapy after percutaneous coronary intervention. However, clopidogrel hyporesponsiveness related to gene polymorphisms is a concern. Populations with higher degrees of genetic admixture may have increased prevalence of clopidogrel hyporesponsiveness. To assess this, we genotyped CYP2C19, ABCB1, and PON1 in 187 patients who underwent percutaneous coronary intervention. Race was self-defined by patients. We also performed light transmission aggregometry with adenosine diphosphate (ADP) and arachidonic acid during dual antiplatelet therapy. We found a significant difference for presence of the CYP2C19*2 polymorphism between white and non-white patients. Although 7%... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Platelet function tests; Single nucleotide polymorphism; Percutaneous coronary intervention; Aspirin; Clopidogrel. |
Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017000100702 |
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Gu,Q-L.; Han,Y.; Lan,Y-M.; Li,Y.; Kou,W.; Zhou,Y-S.; Hai,X-J.; Yan,B.; Ci,C-H.. |
We investigated the influence of apolipoprotein B gene (APOB) variants on the risk of hyperlipidemia (HL) in 631 middle-aged and elderly members of the Chinese Yugur population (HL, n=336; normolipidemia, n=295). APOB polymorphisms were identified using mass spectrometry, and five single nucleotide polymorphisms (rs1042034, rs2163204, rs512535, rs676210, and rs679899) and serum lipids were further analyzed. rs1042034 and rs676210 were significantly associated with HL (P<0.05). Compared with the GG or AA genotype, individuals with AG and AG+AA in rs1042034 and with AG and AG+GG in rs676210 had a 1.67-fold (95%CI=1.20–2.33),1.63-fold (95%CI=1.19–2.24), 1.72-fold (95%CI=1.24–2.40), and 1.67-fold (95%CI=1.21–2.291) increased risk of high HL, respectively.... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Yugur minority; Apolipoprotein B gene; Single nucleotide polymorphism; Hyperlipidemia; Serum lipids. |
Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017001100601 |
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Rodrigues,A.C.; Rebecchi,I.M.M.; Bertolami,M.C.; Faludi,A.A.; Hirata,M.H.; Hirata,R.D.C.. |
The MDR1 gene encodes the P-glycoprotein, an efflux transporter with broad substrate specificity. P-glycoprotein has raised great interest in pharmacogenetics because it transports a variety of structurally divergent drugs, including lipid-lowering drugs. The synonymous single-nucleotide polymorphism C3435T and the nonsynonymous single-nucleotide polymorphism G2677T/A in MDR1 have been indicated as potential determinants of variability in drug disposition and efficacy. In order to evaluate the effect of G2677T/A and C3435T MDR1 polymorphisms on serum levels of lipids before and after atorvastatin administration, 69 unrelated hypercholesterolemic individuals from São Paulo city, Brazil, were selected and treated with 10 mg atorvastatin orally once daily for... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: MDR1 gene; Hypercholesterolemia; Statins; Single nucleotide polymorphism; Pharmacogenetics. |
Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000900014 |
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Brustolin,S.; Giugliani,R.; Félix,T.M.. |
Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice,... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Homocysteine; Hyperhomocysteinemia; Folate metabolism; Single nucleotide polymorphism; Susceptibility genes. |
Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000100001 |
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Zhang,Y.; Ling,Z.Y.; Deng,S.B.; Du,H.A.; Yin,Y.H.; Yuan,J.; She,Q.; Chen,Y.Q.. |
Associations between polymorphisms of the CD36 gene and susceptibility to coronary artery heart disease (CHD) are not clear. We assessed allele frequencies and genotype distributions of CD36 gene polymorphisms in 112 CHD patients and 129 control patients using semi-quantitative polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis. Additionally, we detected CD36 mRNA expression by real-time quantitative PCR, and we quantified plasma levels of oxidized low-density lipoprotein (ox-LDL) using an enzyme-linked immunosorbent assay (ELISA). There were no significant differences between the two groups (P>0.05) in allele frequencies of rs1761667 or in genotype distribution and allele frequencies of rs3173798. The genotype... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Coronary artery disease; CD36; Rs1761667; Rs3173798; Single nucleotide polymorphism; Ox-LDL. |
Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014001000895 |
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Moysés,C.B.; Moreira,E.S.; Asprino,P.F.; Guimarães,G.S.; Alberto,F.L.. |
Hereditary hemochromatosis (HH) is a common autosomal disorder of iron metabolism mainly affecting Caucasian populations. Three recurrent disease-associated mutations have been detected in the hemochromatosis gene (HFE): C282Y, H63D, and S65C. Although HH phenotype has been associated with all three mutations, C282Y is considered the most relevant mutation responsible for hemochromatosis. Clinical complications of HH include cirrhosis of the liver, congestive cardiac failure and cardiac arrhythmias, endocrine pancreatic disease, which can be prevented by early diagnosis and treatment. Therefore, a reliable genotyping method is required for presymptomatic diagnosis. We describe the simultaneous detection of the C282Y, H63D and S65C mutations in the... |
Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hemochromatosis; Single nucleotide polymorphism; Quenched-FRET; Real-time PCR. |
Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008001000001 |
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Ferreira,Jéssica Rosset; Faria,Bruna Franciele; Comar Junior,Moacyr; Delatorre,Carla Andréa; Minella,Euclydes; Pereira,Jorge Fernando. |
Abstract The barley HvAACT1 gene codes for a citrate transporter associated with tolerance to acidic soil. In this report, we describe a single nucleotide polymorphism (SNP) in the HvAACT1 coding region that was detected as T-1,198 (in genotypes with lower root growth on acidic soil) or G-1,198 (greater root growth) and resulted in a single amino acid change (L/V-172). Molecular dynamic analysis predicted that HvAACT1 proteins with L or V-172 were stable, although the substitution led to structural changes within the protein. To evaluate the effect of the SNP on tolerance to acidic soil, barley accessions were separated into haplotypes based on the presence of a 1 kb insertion in the HvAACT1 promoter and a 21 bp insertion/deletion. These markers and the... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Aluminium tolerance; Citrate transporter; Haplotype; Hordeum vulgare; Single nucleotide polymorphism. |
Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300480 |
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Cypriano,Ana Sheila; Alves,Gilda; Ornellas,Antonio Augusto; Scheinkman,José; Almeida,Renata; Scherrer,Luciano; Lage,Claudia. |
Abstract Susceptibility to cancer ensues in individuals carrying malfunctioning DNA repair mechanisms. The impact of Single Nucleotide Polymorphisms (SNPs) in key DNA repair mechanisms on risk for prostate cancer was investigated in this case-control study. Samples consisted of 110 patients with confirmed prostate cancer and 200 unaffected men, from Rio de Janeiro, Brazil. XPD/Lys751Gln (rs13181), APEX1/Asp148Glu (rs1130409), and RAD51/G135C (rs1801320) SNPs were analyzed by PCR-RFLP. Allelic and genotypic frequencies were calculated and compared by Chi-Square test. The association between SNPs and clinical/epidemiological data was considered significant by Odds Ratio analysis, with IC95% and a p-value≤0.05. Only the XPD/Lys751Gln SNP significantly... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Prostate cancer; Single nucleotide polymorphism; XPD; DNA repair; Gene-environment interaction. |
Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000500751 |
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Liu,Yu; Duan,Xiaoyan; Chen,Si; He,Hua; Liu,Xiaolin. |
Abstract Based on RNA-seq analysis, we recently found that the bovine NCAPG (non-SMC condensin I complex, subunit G) gene is differentially expressed during development of the longissimus muscle. In the present study, we validated this result and, using quantitative real-time PCR analysis, identified two adjacent genes, LCORL and DCAF16, that are more abundant in fetal muscle tissue; further analysis of tissue-specific expression patterns indicated high abundance of NCAPG in muscle. Since no polymorphisms were detected in a previous study of Qinchuan cattle, we extended our investigation to examine the occurrence of single-nucleotide polymorphisms (SNPs) in the NCAPG gene. Three SNPs, i.e., one located in the intron region (g47747: T > G), a synonymous... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Association analysis; Growth traits; Longissimus muscle; NCAPG expression; Single nucleotide polymorphism. |
Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000400450 |
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Fernández,María E.; Goszczynski,Daniel E.; Lirón,Juan P.; Villegas-Castagnasso,Egle E.; Carino,Mónica H.; Ripoli,María V.; Rogberg-Muñoz,Andrés; Posik,Diego M.; Peral-García,Pilar; Giovambattista,Guillermo. |
During the last decade, microsatellites (short tandem repeats or STRs) have been successfully used for animal genetic identification, traceability and paternity, although in recent year single nucleotide polymorphisms (SNPs) have been increasingly used for this purpose. An efficient SNP identification system requires a marker set with enough power to identify individuals and their parents. Genetic diagnostics generally include the analysis of related animals. In this work, the degree of information provided by SNPs for a consanguineous herd of cattle was compared with that provided by STRs. Thirty-six closely related Angus cattle were genotyped for 18 STRs and 116 SNPs. Cumulative SNPs exclusion power values (Q) for paternity and sample matching... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Microsatellite; Single nucleotide polymorphism; Exclusion probability; Genetic identification; Bovine. |
Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000200008 |
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Jemaa,Slim Ben; Thamri,Nejia; Mnara,Sofiane; Rebours,Emmanuelle; Rocha,Dominique; Boussaha,Mekki. |
Abstract To carry out effective genome-wide association studies, information about linkage disequilibrium (LD) is essential. Here, we used medium-density SNP chips to provide estimates of LD in native Tunisian cattle. The two measures of LD that were used, mean r2 and D’, decreased from 0.26 to 0.05 and from 0.73 to 0.40, respectively, when the distance between markers increased from less than 20 Kb to 200 Kb. The decay in LD over physical distance occurred at a faster rate than that reported for European and other indigenous breeds, and reached background levels at less than 500 Kb distance. This is consistent with the absence of strong selective pressure within the Tunisian population and suggests that, in order to be effective, any potential genome-wide... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Tunisian cattle; Conservation; Linkage disequilibrium; Effective population size; Single nucleotide polymorphism. |
Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100052 |
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Qin,Peng; Lin,Yu; Hu,Yaodong; Liu,Kun; Mao,Shuangshuang; Li,Zhanyi; Wang,Jirui; Liu,Yaxi; Wei,Yuming; Zheng,Youliang. |
Abstract The D-genome progenitor of wheat (Triticum aestivum), Aegilops tauschii, possesses numerous genes for resistance to abiotic stresses, including drought. Therefore, information on the genetic architecture of A. tauschii can aid the development of drought-resistant wheat varieties. Here, we evaluated 13 traits in 373 A. tauschii accessions grown under normal and polyethylene glycol-simulated drought stress conditions and performed a genome-wide association study using 7,185 single nucleotide polymorphism (SNP) markers. We identified 208 and 28 SNPs associated with all traits using the general linear model and mixed linear model, respectively, while both models detected 25 significant SNPs with genome-wide distribution. Public database searches... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Aegilops tauschii; Drought resistance; Genome-wide association study; Single nucleotide polymorphism; Wheat. |
Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000300398 |
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Registros recuperados: 30 | |
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