Consulta: subjectFacets:"Polymorphisms"
Registros recuperados: 45
Data/hora: 12/06/2024 16:53:55

Polimorfismos de la proteína 15 morfogénica ósea (BMP15) asociados al tipo de parto en la oveja pelibuey.
Provedor de dados: 32
Autores: Argüello Hernández, Héctor Javier.
La Proteína 15 Morfogénica Ósea (BMP15), también conocida como Factor 9B de Crecimiento y Diferenciación (GDF9B), es miembro de la superfamilia β de factores de crecimiento (TGFβ) y su expresión en el ovocito es esencial para el desarrollo y crecimiento folicular. Diferentes polimorfismos en el gen BMP15 han sido asociados con el incremento de tasa ovulatoria y/o prolificidad en algunas razas de ovinos. De esta manera, los objetivos para este estudio fueron determinar tres polimorfismos (FecXG, FecXL y FecXH) con una mutación de una sola base (SNPs) en el gen BMP15, y estimar la asociación de los tres polimorfismos con el tipo de parto (prolificidad) en ovejas de la raza Pelibuey. Se tomaron muestras sanguíneas de la vena yugular de 253 ovejas en edad...
Palavras-chave: Polimorfismos; BMP15; Tetraprimer ARMs-PCR; Análisis de secuencias; Ovejas Pelibuey; Polymorphisms; Sequence analysis; Pelibuey ewes; Ganadería; Maestría.
Ano: 2013
URL: http://hdl.handle.net/10521/1958

Evaluación del polimorfismo del gen leptina en bovinos en el sistema doble proposito en Chiapas, México.
Provedor de dados: 32
Autores: Ortiz Salazar, Jorge Alberto.
La leptina es una hormona proteica de 16 KDa, compuesta de 146 aminoácidos y es sintetizada principalmente por el tejido adiposo. En el eje hipotálamo-hipófisisgonadal, la leptina juega un papel muy importante en la regulación de la reproducción de los mamíferos. La mutación del gen leptina TT está asociado con la calidad de la carne y leche en bovinos. El objetivo de este estudio fue estimar las frecuencias genotípicas y alélicas del polimorfismo (SNP, Single Nucleotide Polymorphism) del gen leptina en el exon 2, en vacas y sementales del sistema de producción doble propósito en el estado de Chiapas, México. El polimorfismo fue determinado mediante la técnica Tetra Primers Amplyfication Refractory Mutation System-Polymerase Chain Reaction (AMRS-PCR). Se...
Palavras-chave: Gen leptina; Polimorfismo; Doble propósito; Técnica ARMS-PCR; Leptin gen; Polymorphisms; Dual purpose system; ARMS-PCR test; Doctorado; Ganadería.
Ano: 2011
URL: http://hdl.handle.net/10521/571

Evaluación del polimorfismo del gen leptina en bovinos en el sistema doble proposito en Chiapas, México.
Provedor de dados: 32
Autores: Ortiz Salazar, Jorge Alberto.
La leptina es una hormona proteica de 16 KDa, compuesta de 146 aminoácidos y es sintetizada principalmente por el tejido adiposo. En el eje hipotálamo-hipófisisgonadal, la leptina juega un papel muy importante en la regulación de la reproducción de los mamíferos. La mutación del gen leptina TT está asociado con la calidad de la carne y leche en bovinos. El objetivo de este estudio fue estimar las frecuencias genotípicas y alélicas del polimorfismo (SNP, Single Nucleotide Polymorphism) del gen leptina en el exon 2, en vacas y sementales del sistema de producción doble propósito en el estado de Chiapas, México. El polimorfismo fue determinado mediante la técnica Tetra Primers Amplyfication Refractory Mutation System-Polymerase Chain Reaction (AMRS-PCR). Se...
Palavras-chave: Gen leptina; Polimorfismo; Doble propósito; Técnica ARMS-PCR; Leptin gen; Polymorphisms; Dual purpose system; ARMS-PCR test; Doctorado; Ganadería.
Ano: 2011
URL: http://hdl.handle.net/10521/571

Growth and carcass traits associated with GH1/Alu I and POU1F1/Hinf I gene polymorphisms in Zebu and crossbred beef cattle
Provedor de dados: 74
Autores: Curi,Rogério A.; Palmieri,Darío A.; Suguisawa,Liliane; Oliveira,Henrique N. de; Silveira,Antonio C.; Lopes,Catalina R.
The objectives of the present study were to estimate the allele and genotype frequencies of the GH1/Alu I and POU1F1/Hinf I polymorphisms in beef cattle belonging to different genetic groups and to determine the effects of these polymorphisms on growth and carcass traits in cattle submitted to feedlot management, an intensive production model. Genotyping was performed on 384 animals, including 79 Nellore, 30 Canchim (5/8 Charolais + 3/8 Zebu), 30 Simmental x Nellore crossbred and 245 Angus x Nellore crossbred cattle. Body weight, weight gain, dressing percentage, Longissimus dorsi area and backfat thickness were fitted using the General Linear Model (GLM) procedure of the SAS program and the least square means of the genotypes were compared using the F...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Beef cattle; Polymorphisms; Candidate gene; Growth; Carcass.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100012

-866G/A and Ins/Del polymorphisms in the UCP2 gene and diabetic kidney disease: case-control study and meta-analysis
Provedor de dados: 74
Autores: Dieter,Cristine; Assmann,Taís Silveira; Lemos,Natália Emerim; Massignam,Eloísa Toscan; Souza,Bianca Marmontel de; Bauer,Andrea Carla; Crispim,Daisy.
Abstract Uncoupling protein 2 (UCP2) decreases reactive oxygen species (ROS). ROS overproduction is a key contributor to the pathogenesis of diabetic kidney disease (DKD). Thus, UCP2 polymorphisms are candidate risk factors for DKD; however, their associations with this complication are still inconclusive. Here, we describe a case-control study and a meta-analysis conducted to investigate the association between UCP2 -866G/A and Ins/Del polymorphisms and DKD. The case-control study comprised 385 patients with type 1 diabetes mellitus (T1DM): 223 patients without DKD and 162 with DKD. UCP2 -866G/A (rs659366) and Ins/Del polymorphisms were genotyped by real-time PCR and conventional PCR, respectively. For the meta-analysis, a literature search was conducted...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: UCP2; Polymorphisms; Diabetic kidney disease.
Ano: 2020
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400101

TaqI B1/B2 and -629A/C cholesteryl ester transfer protein (CETP) gene polymorphisms and their association with CETP activity and high-density lipoprotein cholesterol levels in a Tehranian population. Part of the Tehran Lipid and Glucose Study (TLGS)
Provedor de dados: 74
Autores: Daneshpour,Maryam S; Hedayati,Mehdi; Azizi,Fereidoun.
We examined the cholesteryl ester transfer protein (CETP) gene TaqI intron 1 B1/B2 polymorphism and the -629A/C CETP promoter polymorphism in respect to high-density lipoprotein cholesterol (HDL-C) in a healthy Iranian population taken from the Tehran Lipid and Glucose Study (TLGS). The relationship between CETP activity and HDL-C level was also determined along with body mass index, blood pressure and tobacco smoking status. PCR-RFLP used to amplify a segment of the CETP intron 1 TaqI (B2/B1) polymorphism from 1021 individuals and we selected 345 individuals from the lowest, middle and highest HDL-C deciles and investigated the -629A/C polymorphism. We also evaluated the CETP activity of 103 of these individuals, each with at least one homozygous allele....
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Cholesteryl ester transfer protein (CETP); Hardy-Weinberg equilibrium; Linkage disequilibrium; Polymorphisms.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600001

Effects of CSN3 and LGB gene polymorphisms on production traits in beef cattle
Provedor de dados: 74
Autores: Curi,Rogério A.; Oliveira,Henrique N. de; Gimenes,Marcos A.; Silveira,Antonio C.; Lopes,Catalina R.
The objective of the present study was to estimate the allele and genotype frequencies of the CSN3/HinfI and LGB/HaeIII gene polymorphisms in beef cattle belonging to different genetic groups, and to determine the effects of these polymorphisms on growth and carcass traits in these animals, which are submitted to an intensive production model. Genotyping was performed on 79 Nelore, 30 Canchim (5/8 Charolais + 3/8 Zebu) and 275 crossbred cattle originating from the crosses of Simmental (n = 30) and Angus (n = 245) sires with Nelore females. Body weight, weight gain, dressing percentage, longissimus dorsi area and backfat thickness were fitted using the GLM procedure, and least square means of the genotypes were compared by the F test. The results showed...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Beef cattle; Polymorphisms; Candidate gene; Growth; Carcass.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200015

Effect of BCHE single nucleotide polymorphisms on lipid metabolism markers in women
Provedor de dados: 74
Autores: Oliveira,Jéssica de; Tureck,Luciane Viater; Santos,Willian dos; Saliba,Louise Farah; Schenknecht,Caroline Schovanz; Scaraboto,Débora; Souza,Ricardo Lehtonen R.; Furtado-Alle,Lupe.
Abstract Butyrylcholinesterase (BChE) activity and polymorphisms in its encoding gene had previously been associated with metabolic traits of obesity. This study investigated the association of three single nucleotide polymorphisms (SNPs) in the BCHE gene: -116G &gt; A (rs1126680), 1615GA (rs1803274), 1914A &lt; G (rs3495), with obesity and lipid metabolism markers, body mass index (BMI), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), triglyceride (TG) levels, and BChE enzymatic activity in obese (BMI≥30/n = 226) and non-obese women (BMI &lt; 25/n = 81). BCHE SNPs genotyping was obtained by TaqMan allelic discrimination assay and by RFLP-PCR. Plasmatic BChE activity was measured using...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: BCHE gene; Obesity; Lipid metabolism; Polymorphisms.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300408

Genetic variations in circadian rhythm genes and susceptibility for myocardial infarction
Provedor de dados: 74
Autores: Škrlec,Ivana; Milic,Jakov; Heffer,Marija; Peterlin,Borut; Wagner,Jasenka.
Abstract Disruption of endogenous circadian rhythms has been shown to increase the risk of developing myocardial infarction (MI), suggesting that circadian genes might play a role in determining disease susceptibility. We conducted a case-control study on 200 patients hospitalized due to MI and 200 healthy controls, investigating the association between MI and single nucleotide polymorphisms (SNPs) in four circadian genes (ARNTL, CLOCK, CRY2, and PER2). The variants of all four genes were chosen based on their previously reported association with cardiovascular risk factors, which have a major influence on the occurrence of myocardial infarction. Statistically significant differences, assessed through Chi-square analysis, were found in genotype...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Cardiovascular diseases; Circadian rhythm; Myocardial infarction; Polymorphisms.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000300403

Epistasis of polymorphisms related to the articular cartilage extracellular matrix in knee osteoarthritis: Analysis-based multifactor dimensionality reduction
Provedor de dados: 74
Autores: Fernández-Torres,Javier; Martínez-Nava,Gabriela Angélica; Zamudio-Cuevas,Yessica; Lozada,Carlos; Garrido-Rodríguez,Daniela; Martínez-Flores,Karina.
Abstract Osteoarthritis (OA) is a complex disease with a multifactorial etiology. The genetic component is one of the main associated factors, resulting from interactions between genes and environmental factors. The aim of this study was to identify gene-gene interactions (epistasis) of the articular cartilage extracellular matrix (ECM) in knee OA. Ninety-two knee OA patients and 147 healthy individuals were included. Participants were genotyped in order to evaluate nine variants of eight genes associated with ECM metabolism using the OpenArray technology. Epistasis was analyzed using the multifactor dimensionality reduction (MDR) method. The MDR analysis showed significant gene-gene interactions between MMP3 (rs679620) and COL3A1 (rs1800255), and between...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Epistasis; Extracellular matrix; Knee osteoarthritis; Multifactor dimensionality reduction; Polymorphisms.
Ano: 2020
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400102

Distinctively variable sequence-based nuclear DNA markers for multilocus phylogeography of the soybean- and rice-infecting fungal pathogen Rhizoctonia solani AG-1 IA
Provedor de dados: 74
Autores: Ciampi,Maisa B.; Gale,Liane Rosewich; Lemos,Eliana G. de Macedo; Ceresini,Paulo C.
A series of multilocus sequence-based nuclear DNA markers was developed to infer the phylogeographical history of the Basidiomycetous fungal pathogen Rhizoctonia solani AG-1 IA infecting rice and soybean worldwide. The strategy was based on sequencing of cloned genomic DNA fragments (previously used as RFLP probes) and subsequent screening of fungal isolates to detect single nucleotide polymorphisms (SNPs). Ten primer pairs were designed based on these sequences, which resulted in PCR amplification of 200-320 bp size products and polymorphic sequences in all markers analyzed. By direct sequencing we identified both homokaryon and heterokaryon (i.e. dikaryon) isolates at each marker. Cloning the PCR products effectively estimated the allelic phase from...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Multilocus genotyping; Polymorphisms; Allelic discrimination; Primer design.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000400027

Mannose-Binding Lectin 2 (MBL2) combined genotypes deficiency is associated with susceptibility for Oral Lichen Planus
Provedor de dados: 74
Autores: Polesello,Vania; Segat,Ludovica; Biasotto,Matteo; Ottaviani,Giulia; Gobbo,Margherita; Di Lenarda,Roberto; Crovella,Sergio; Zupin,Luisa.
Abstract Oral Lichen Planus (OLP) is an oral inflammatory condition, mediated by host immune system reaction, presenting basal membrane damages with inflammatory lesions in the mouth and/or skin. In this study, the role of functional polymorphisms in the MBL2 gene, encoding for Mannose-Binding Protein C (MBP-C), a member of the innate immune response and an acute-phase protein able to activate the complement cascade, was investigated to assess a possible association with OLP susceptibility in Italian patients. Two variations at the promoter region (called H/L and X/Y) and three at the first exon (at codon 52, 54, and 57) of the MBL2 gene were analyzed in 69 OLP patients and 244 healthy controls from northeastern Italy. Considering the polymorphisms...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Mannose-Binding Protein-C; MBL2; Oral Lichen Planus; Polymorphisms.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000100009

Genetic characterization of the population of São Luís, MA, Brazil
Provedor de dados: 74
Autores: Ferreira,Francileide Lisboa; Leal-Mesquita,Emygdia Rosa; Santos,Sidney Emanuel Batista dos; Ribeiro-dos-Santos,Ândrea Kely Campos.
Five loci (vWA1, F13A1, D12S67, Apo-B and D1S80) were investigated by polyacrylamide gel electrophoresis followed by silver staining in a sample of 177 individuals from the population of São Luís, State of Maranhão, Brazil. A total of 70 different alleles were identified. A statistically significant deviation from the Hardy-Weinberg equilibrium was observed in a single locus (F13A1, p = 0.0075). The average heterozygosity (H) was estimated at 77.7%, the mean number of alleles per locus as 14. The PD (capacity of genotype differentiation at each locus) ranged from 88.9% (vWA1) to 96.7% (F13A1). The combined PE (power of exclusion) of these five loci was 99.8%. In terms of racial admixture (42% European, 39% Indian, and 19% African Black ancestry), São Luís...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Amazon region; DNA; Polymorphisms; VNTRs; STRs; Interethnic admixture.
Ano: 2005
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100004

Polymorphisms of arylamine N-acetyltransferase2 and risk of lung and colorectal cancer
Provedor de dados: 74
Autores: Mahasneh,Amjad; Jubaili,Amal; El Bateiha,Ahmed; Al-Ghazo,Mohammad; Matalka,Ismail; Malkawi,Mousa.
The arylamine N-acetyltransferase 2 (NAT2) enzymes detoxify a wide range of naturally occurring xenobiotics including carcinogens and drugs. Point mutations in the NAT2 gene result in the variant alleles M1 (NAT2 *5A), M2 (NAT2*6A), M3 (NAT2*7) and M4 (NAT2 *14A) from the wild-type WT (NAT2 *4) allele. The current study was aimed at screening genetic polymorphisms of NAT2 gene in 49 lung cancer patients, 54 colorectal cancer patients and 99 cancer-free controls, using PCR-RFLP. There were significant differences in allele frequencies between lung cancer patients and controls in the WT, M2 and M3 alleles (p &lt; 0.05). However, only M2 and M3 allele frequencies were different between colorectal cancer patients and controls (p &lt; 0.05). There was a...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: NAT2; Lung cancer; Colorectal cancer; Polymorphisms.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500003

Mutational analysis of the GAP-related domain of the neurofibromatosis type 1 gene in Brazilian NF1 patients
Provedor de dados: 74
Autores: Trovó,Alessandra B.; Goloni-Bertollo,Eny M.; Mancini,Ulises M.; Rahal,Paula; Azevedo Jr.,Walter F. de; Tajara,Eloiza H.
Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. In the present study, a total of 55 unrelated NF1 patients were screened for mutations in the GAP-related domain/GRD (exons 20-27a) by single-strand conformation polymorphism (SSCP). Four different mutations were identified and, taken together, they comprise one nonsense substitution (Q1189X), one deletion (3525-3526delAA), one missense substitution (E1356G) and one mutation in the splice acceptor site (c.4111-1G&gt;A). One novel polymorphism (c.4514+11C&gt;G) and other three putative polymorphisms were also found (c.3315-27G&gt;A, V1146I and V1317A). Genotype-phenotype correlations were investigated, but no particular association was detected.
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Gene NF1; GRD; Neurofibromatosis type 1; Mutations; Polymorphisms.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300003

Association of S100B polymorphisms and serum S100B with risk of systemic lupus erythematous in a Chinese population
Provedor de dados: 74
Autores: Lu,Yulan; Huang,Huatuo; Liu,Chunhong; Zeng,Yonglong; Wang,Rong; Wang,Chunfang; Wei,Yesheng; Lan,Yan.
Abstract The aim of this study was to investigate whether the S100B polymorphisms are associated with systemic lupus erythematous (SLE) in a Chinese population. A total of 313 SLE patients and 396 control subjects were enrolled in the present study. The genotypes of three SNPs (rs9722, rs881827 and rs1051169) in S100B gene were detected by single base extension polymerase chain reaction (SBE-PCR). Serum S100B levels were determined by enzyme-linked immunosorbent assay (ELISA). Rs1051169 was associated with an increased risk of SLE (C vs. G: adjusted OR=1.46, 95% CI, 1.18-1.80, p=0.001; CC vs. GG: adjusted OR=1.99, 95% CI, 1.32-3.02, p=0.001; CC+GC vs. GG: adjusted OR=1.54, 95% CI, 1.13-2.11, p=0.007; CC vs. GC+GG: adjusted OR=1.67, 95% CI, 1.16-2.42,...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: S100B; Polymorphisms; Serum levels; SLE; Neurologic disorder.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000300321

Mutational analysis of xenobiotic metabolizing genes (CYP1A1 and GSTP1) in sporadic head and neck cancer patients
Provedor de dados: 74
Autores: Masood,Nosheen; Kayani,Mahmood Akhtar.
CYP1A1 is the phase I enzyme that detoxifies the carcinogen or converts it into a more electrophilic form, metabolized by phase II enzymes like GSTP1. These detoxifying genes have been extensively studied in association with head and neck cancer (HNC) in different ethnic groups worldwide. The current study was aimed at screening genetic polymorphisms of genes CYP1A1 and GSTP1 in 388 Pakistani HNC patients and 150 cancer-free healthy controls, using PCR-SSCP. No already known variants of either gene were found, however a novel frameshift mutation due to insertion of T (g.2842_2843insT) was observed in the CYP1A1 gene. A statistically significant number (5.4%) of HNC cases, with the mean age of 51.75 (±15.7) years, presented this frameshift mutation in the...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: GSTP1; CYP1A1; Head and neck cancer; Polymorphisms; Mutations.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000400001

Comparative karyotypic analysis in the Alstroemeria hookeri Lodd. (Alstroemeriaceae) complex sensu Bayer (1987)
Provedor de dados: 74
Autores: Baeza,Carlos; Ruiz,Eduardo; Negritto,María.
Alstroemeria L. (Alstroemeriaceae) is an American genus of monocots with two principal distribution centers in Chile and Brazil. In Chile, it is represented by about 32 species, most of them in central Chile, an area known for its high level of endemism. The "complex" Alstroemeria hookeri is endemic to Chile, where it is distributed from the Coquimbo to the Bío-Bío Region. We analyzed the karyotypes of 36 populations of this complex along its natural distribution. Ten metaphases per population were used for chromosome measurements. All analyzed subspecies presented a well defined asymmetric karyotype. The populations of A. hookeri subsp. hookeri collected in the coastal range of the Bío-Bío Region and the populations from the Central Valley of this Region...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Alstroemeria hookeri; Complex; Karyotype; Polymorphisms; Chile.
Ano: 2010
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100020

Polymorphisms FTO rs9939609, PPARG rs1801282 and ADIPOQ rs4632532 and rs182052 but not lifestyle are associated with obesity related-traits in Mexican children
Provedor de dados: 74
Autores: Muñoz-Yáñez,C; Pérez-Morales,R; Moreno-Macías,H; Calleros-Rincón,E; Ballesteros,G; González,R. A; Espinosa,J.
Abstract Concerning the genetic factors of obesity, no consistent association between populations has been reported, which may be due to the frequency of polymorphisms, the lifestyle of studied populations and its interaction with other factors. We studied a possible association of polymorphisms FTO rs9939609, PPARG rs1801282, and ADIPOQ rs4632532 and rs182052 with obesity phenotypes in 215 Mexican children. Glucose, triglycerides, cholesterol, HDL and LDL were measured. In addition, weight, height, waist circumference and triceps skin thickness were recorded. High-energy diets and sedentary behavior were evaluated with a validated questionnaire. In contrast with other reports, only FTO rs9939609 was associated with obesity related-traits, including BMI (p...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Obesity; Children; Polymorphisms; Energy intake; Physical activity; Lipid profile.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000400547

Variability among inbred lines and RFLP mapping of sunflower isozymes
Provedor de dados: 74
Autores: Carrera,Alicia D.; Pizarro,G.; Poverene,M.; Feingold,S.; León,A.J.; Berry,S.T.
Eight isozyme systems were used in this study: acid phosphatase (ACP), alcohol dehydrogenase (ADH), esterase (EST), glutamate dehydrogenase (GDH), malate dehydrogenase (MDH), phosphoglucoisomerase (PGI), 6-phosphogluconate dehydrogenase (PGD), and phosphoglucomutase (PGM). The polymorphism of these enzyme systems was studied in 25 elite inbred lines. A total of 19 loci were identified, but only eight of them were polymorphic in the germplasm tested. The polymorphic index for the eight informative markers ranged from 0.08 to 0.57, with a mean value of 0.36. Five isozyme loci were mapped in F2:3 populations with existing RFLP data. Est-1, Gdh-2 and Pgi-2 were mapped to linkage groups 3, 14 and 9, respectively. As in previous reports, an ACP locus and a PGD...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Isozyme; Polymorphisms; RFLP markers; Sunflower; Linkage map; Helianthus annuus.
Ano: 2002
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100013

Genetic variants in the fat mass and obesity-associated (FTO) gene confer risk for extreme obesity and modulate adiposity in a Brazilian population
Provedor de dados: 74
Autores: Fonseca,Ana Carolina Proença da; Marchesini,Bruna; Zembrzuski,Verônica Marques; Voigt,Danielle Dutra; Ramos,Vivianne Galante; Carneiro,João Regis Ivar; Nogueira Neto,José Firmino; Cabello,Giselda Maria Kalil de; Cabello,Pedro Hernán.
Abstract Obesity is a major public health problem worldwide. It has a complex etiology, influenced by environmental and genetic factors. FTO has been recognized as an important genetic factor for obesity development. This study evaluated the contribution of FTO polymorphisms (rs9939609 and rs17817449) for extreme obesity in terms of the period of obesity onset, anthropometric, and biochemical parameters. The haplotype and the combined effects of FTO risk alleles on obesity susceptibility were evaluated. We investigated 169 normal-weight subjects (body mass index, BMI: 22.8 [21.0; 24.0] kg/m2) and 123 extremely obese individuals (BMI: 47.6 [44.1; 53.1] kg/m2). Genotyping was performed by real time PCR. Our results showed a strong association between FTO...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: BMI; Extreme obesity; FTO; Haplotype; Polymorphisms.
Ano: 2020
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100111

Frequency of Common Variants in Genes Involved in Lipid-Lowering Response to Statins in Chilean Subjects with Hypercholesterolemia
Provedor de dados: 77
Autores: Rosales,Alexy; Pacheco,Alejandro; Cuevas,Alejandro; Saavedra,Nicolás; Zambrano,Tomás; Lanas,Fernando; Salazar,Luis A.
Interindividual differences in activity and expression of the metabolizing enzymes cytochrome P450 (CYP) 3A4 and 3A5 and the multidrug efflux pump P-glycoprotein (P-gp, encoded by ABCB1 gene) contribute considerably to lipid-lowering efficacy of statin treatment in subjects with hypercholesterolemia. Variability in the activity of CYP3A4, CYP3A5 and P-gp could be considered to result from genetic polymorphisms encoding their genes. However, the available data indicate that the frequencies of ABCB1, CYP3A4 and CYP3A5 gene polymorphisms differ significantly across populations. Thus, the aim of the present study was to determine the allelic frequency of three common variants of these genes in Chilean individuals with primary hypercholesterolemia (HC) and...
Tipo: Journal article
Palavras-chave: Polymorphisms; Statins; Hypercholesterolemia; ABCB1.
Ano: 2011
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022011000400037

Effect of Five Single Nucleotide Polymorphisms of ABCG5 and ABCG8 Genes on Ezetimibe Lipid-Lowering Response
Provedor de dados: 77
Autores: Caamaño,José M; Saavedra,Nicolás; Zambrano,Tomás; Lanas,Fernando; Salazar,Luis A.
In this study we evaluated the possible association between five single nucleotide polymorphisms in ABCG5 (rs6720173) and ABCG8 (rs11887534, rs4148211, rs4148217 and rs6544718) genes and ezetimibe response in Chilean hypercholesterolemic subjects. A total of 60 non-related hypercholesterolemic subjects, aged 18 to 65 years old were included in this study. These subjects were treated with ezetimibe (10mg/day) during one month. The ABCG5 and ABCG8 genotypes were assessed by PCR-RFLP. The genotype distribution of the ABCG5/ABCG8 polymorphisms was in Hardy-Weinberg equilibrium. Our results showed that the investigated polymorphisms were not associated with the response to ezetimibe. Nevertheless, the T allele of rs6544718 polymorphism was related to higher...
Tipo: Journal article
Palavras-chave: Ezetimibe; Cholesterol; ABCG5/G8; Polymorphisms.
Ano: 2012
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022012000200055

Detection of SNPs in the BMP6 Gene and Their Association with Carcass and Bone Traits in Chicken
Provedor de dados: 89
Autores: Cui,C; Ye,F; Li,Y; Yin,H; Ye,M; He,L; Zhao,X; Xu,H; Li,D; Qiu,M; Zhu,Q; Wang,Y.
ABSTRACT BMP6, a member of the subfamilies of the morphogenetic proteins (BMPs), plays a crucial role in osteogenic and chondrocyte differentiation in vitro and stimulates chondrogenesis, making chondrocytes differen-tiate on their terminal stage. The objective of this study is to explore the relationship between polymorphism of BMP6 gene and slaughter traits in chicken respectively. We screened the exonic and intronic regions of BMP6 gene by DNA pool construction and amplified DNA fragment by PCR, and finally, we got nine SNPs. Association analysis revealed that BMP6 had no significant association among all slaughter traits in Yellow bantam chicken. However, BMP6 had a significant difference with femur weight, tibia weight, femur length (p&lt;0.05), and...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: BMP6 gene; Bone traits; Carcass traits; Chicken; Polymorphisms.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-635X2017000400673

Detection of Snps in the Melanocortin 1-Receptor (MC1R) and Its Association with Shank Color Trait in Hs Chicken
Provedor de dados: 89
Autores: Shen,X; Wang,Y; Cui,C; Zhao,X; Li,D; Zhu,Q; Jiang,X; Yang,C; Qiu,M; Yu,C; Li,Q; Du,H; Zhang,Z; Yin,H.
ABSTRACT The melanocortin 1 receptor (MC1R) gene plays a key role in controlling the deposition of melanin. In mammals, the MC1Rgene is regarded as a major candidate gene in the control of melanin formation. In domestic animals, the MC1R gene mainly controls the expression of coat, skin, and plumage color in mammals and birds. In order to breed chickens with dark-green shank faster, we screened the molecular markers for shank color in a HS chicken population by exploring the relationship between polymorphism of the MC1R gene and three different shank colors (light green, dark green and yellow). Two primer pairs for code region of the MC1R gene were designed in the basic of chicken genomic sequence. DNA sequencing was performed to detect the polymorphisms...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: HS chicken; MC1R gene; Polymorphisms; Shank color.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-635X2019000300314

Mutations in collagen 18A1 (COL18A1) and their relevance to the human phenotype
Provedor de dados: 42
Autores: Passos-Bueno,Maria Rita; Suzuki,Oscar T.; Armelin-Correa,Lucia M.; Sertié,Andréa L.; Errera,Flavia I.V.; Bagatini,Kelly; Kok,Fernando; Leite,Katia R.M.
Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome KS), an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipital encephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype, showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null alleles causing...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: COL18A1; Collagen XVIII; Knobloch syndrome; Eye development; Neuronal cell migration; Craniosynostosis; Polymorphisms; D1437N.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652006000100012

Polymorphisms in CYP2E1, GSTM1 and GSTT1 and anti-tuberculosis drug-induced hepatotoxicity
Provedor de dados: 42
Autores: BRITO,TAIS C.; POSSUELO,LIA G.; VALIM,ANDREIA R.M.; TODENDI,PÂMELA F.; RIBEIRO,ANDREZZA W.; GREGIANINI,TATIANA S.; JARCZEWSKI,CARLA A.; HUTZ,MARA H.; ROSSETTI,MARIA LUCIA R.; ZAHA,ARNALDO.
Anti-tuberculosis drug-induced hepatitis (ATD- induced hepatitis) has been linked to polymorphisms in genes encoding drug metabolizing enzymes. N-acetyltransferase 2 (NAT2), cytochrome P450 2E1 (CYP2E1) and glutathione S-transferase (loci GSTM1 and GSTT1) are involved in the metabolism of isoniazid, the most toxic drug for the treatment of tuberculosis (TB). This study was designed to determine the frequency and to evaluate whether polymorphisms at CYP2E1, GSTM1 and GSTT1 genes are associated with drug response, as well as to identify clinical risk factors for ATD-induced hepatitis. A total of 245 Brazilian patients undergoing treatment for TB were genotyped using polymerase chain reaction and restriction fragment length polymorphism and sequencing...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Hepatotoxicity; Isoniazid; Polymorphisms; Tuberculosis.
Ano: 2014
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652014000200855

Association of IL-6 and CRP gene polymorphisms with obesity and metabolic disorders in children and adolescents
Provedor de dados: 42
Autores: Todendi,Pâmela F.; Klinger,Elisa I.; Ferreira,Michele B.; Reuter,Cézane P.; Burgos,Miria S.; Possuelo,Lia G.; Valim,Andréia R.M.
Activation of adipose tissue inflammation is associated with obesity caused by lipid accumulation in adipocytes. Through this activation, proinflammatory cytokines, such as Interleukin-6 (IL-6) and C-reactive protein (CRP) seem to influence metabolic disorders. The present study evaluated whether polymorphisms in the CRP (rs1205) and IL-6 (rs1800795, rs2069845) genes are associated with the development of metabolic disorders in children and adolescents. A cross-sectional study was performed, consisting of 470 students from the municipality of Santa Cruz do Sul, Brazil, aged 7-17 years. Body mass index (BMI) was classified according to overweight and obesity. Genotyping was performed by real-time Polymerase Chain Reaction(PCR). Anthropometric...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Inflammation; Obesity; Polymorphisms; Risk; Schoolchildren.
Ano: 2015
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652015000200915

Using genomics to improve fruit quality
Provedor de dados: 48
Autores: Meneses,Claudio; Orellana,Ariel.
New fruit varieties are needed to satisfy consumers, and the industry is facing new challenges in order to respond to these demands. The emergence of genomic tools is releasing information on polymorphisms that can be utilized to expedite breeding processes in species that are difficult to breed, given the long periods of time required to get new varieties. The present review describes the current stages of the ongoing efforts that are being taken to apply these technologies to obtain varieties with improved fruit quality in species of the family Rosaceae.
Tipo: Journal article
Palavras-chave: Polymorphisms; Marker Assited Selection; Genomic Tools.
Ano: 2013
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602013000400006

Association of dengue virus infection susceptibility with polymorphisms of 2'-5'-oligoadenylate synthetase genes: a case–control study
Provedor de dados: 55
Autores: Thamizhmani,Ramanathan; Vijayachari,Paluru.
Oligoadenylate synthetases play an important role in the immune response against dengue virus. Single nucleotide polymorphisms in the oligoadenylate synthetases genes are known to affect oligoadenylate synthetases activity and are associated with outcome of viral infections. Polymorphisms in the OAS1 SNPs (rs1131454), OAS2 SNPs (rs1293762, rs15895 and rs1732778) and OAS3 SNPs (rs2285932 and rs2072136) genes were studied using PCR followed by restriction fragment length polymorphism methods in 30 patients for dengue infection and 40 control group who have no documented evidence of symptomatic dengue. An increase in the frequency of OAS2 gene rs1293762 SNP G/T heterozygotes (p = 0.012), decrease in the frequency of SNP G/G homozygotes (p = 0.005) and...
Tipo: Info:eu-repo/semantics/report
Palavras-chave: Dengue; 2'-5'-Oligoadenylate synthetase; Polymorphisms; Genotypes.
Ano: 2014
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702014000500548

Frequency of polymorphisms of genes coding for HIV-1 co-receptors CCR5 and CCR2 in a Brazilian population
Provedor de dados: 55
Autores: Munerato,Patrícia; Azevedo,Maria Lúcia; Sucupira,Maria Cecília Araripe; Pardini,Regina; Pinto,Gedson Humberto Novaes; Catroxo,Márcia; Souza,Inara Espinelli; Diaz,Ricardo Sobhie.
Entry of human immunodeficiency type 1 virus (HIV-1) into target cells requires both CD4and one of the chemokine receptors. Viruses predominantly use one, or occasionally both, of the major co-receptors CCR5 and CXCR4, although other receptors, including CCR2B and CCR3, function as minor co-receptors. A 32-nucleotide deletion (delta32) within the beta-chemokine receptor 5 gene (CCR5) has been described in subjects who remain uninfected despite extensive exposition to HIV-1. The heterozygous genotype delays disease progression. This allele is common among Caucasians, but has not been found in people of African or Asian ancestry. A more common transition involving a valine to isoleucine switch in transmembrane domain I of CCR2B (64I), with unknown functional...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: CCR5; CCR2B; HIV-1 infection; Polymorphisms.
Ano: 2003
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1413-86702003000400002

A cost-effective melting temperature assay for the detection of single-nucleotide polymorphism in the MBL2 gene of HIV-1-infected children
Provedor de dados: 56
Autores: Arraes,L.C.; de Souza,P.R.; Bruneska,D.; Castelo Filho,A.; de Souza Cavada,B.; de Lima Filho,J.L.; Crovella,S.
We report a fast (less than 3 h) and cost-effective melting temperature assay method for the detection of single-nucleotide polymorphisms in the MBL2 gene. The protocol, which is based on the Corbett Rotor Gene real time PCR platform and SYBR Green I chemistry, yielded, in the cohorts studied, sensitive (100%) and specific (100%) PCR amplification without the use of costly fluorophore-labeled probes or post-PCR manipulation. At the end of the PCR, the dissociation protocol included a slow heating from 60º to 95ºC in 0.2ºC steps, with an 8-s interval between steps. Melting curve profiles were obtained using the dissociation software of the Rotor Gene-3000 apparatus. Samples were analyzed in duplicate and in different PCR runs to test the reproducibility of...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Melting temperature assay; Real time PCR; MBL2; Polymorphisms; HIV-1-positive children.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000600003

The effect of 677C&gt;T and 1298A&gt;C MTHFR polymorphisms on sulfasalazine treatment outcome in rheumatoid arthritis
Provedor de dados: 56
Autores: Pawlik,A.; Kurzawski,M.; Gawronska-Szklarz,B.; Gornik,W.; Dziedziejko,V.; Safranow,K.; Juzyszyn,Z.; Drozdzik,M.
Despite the availability of several new agents for the treatment of rheumatoid arthritis (RA), sulfasalazine remains the mainstay because of both cost and experience with its use. Methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism and several polymorphisms have been described in the MTHFR gene. Of these, the 677C&gt;T and 1298A&gt;C polymorphisms have been associated with altered enzyme activity. To examine the association between 677C&gt;T and 1298A&gt;C MTHFR polymorphisms and sulfasalazine efficacy for the treatment of RA, a total of 117 RA patients treated with sulfasalazine (1 g daily; duration of treatment 17 ± 5 months) were analyzed. The 677C&gt;T and 1298 A&gt;C polymorphisms were detected using a PCR-RFLP method. RA was...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: MTHFR; Polymorphisms; Sulfasalazine; Rheumatoid arthritis.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000700011

Analysis of renin-angiotensin-aldosterone system gene polymorphisms in resistant hypertension
Provedor de dados: 56
Autores: Freitas,S.R.S.; Cabello,P.H.; Moura-Neto,R.S.; Dolinsky,L.C.; Lima,A.B.; Barros,M.; Bittencourt,I.; Cordovil,I.L.
Essential hypertension is a disease multifactorially triggered by genetic and environmental factors. The contribution of genetic polymorphisms of the renin-angiotensin-aldosterone system and clinical risk factors to the development of resistant hypertension was evaluated in 90 hypertensive patients and in 115 normotensive controls living in Southwestern Brazil. Genotyping for insertion/deletion of angiotensin-converting enzyme, angiotensinogen M235T, angiotensin II type 1 receptor A1166C, aldosterone synthase C344T, and mineralocorticoid receptor A4582C polymorphisms was performed by PCR, with further restriction analysis when required. The influence of genetic polymorphisms on blood pressure variation was assessed by analysis of the odds ratio, while...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Essential hypertension; Renin-angiotensin- aldosterone system; Polymorphisms; Genetics.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000300005

The ERBB2 gene polymorphisms rs2643194, rs2934971, and rs1058808 are associated with increased risk of gastric cancer
Provedor de dados: 56
Autores: Vázquez-Ibarra,K.C.; Bustos-Carpinteyro,A.R.; García-Ruvalcaba,A.; Magaãa-Torres,M.T.; Gutiérrez-Aguilar,R.; Marín-Contreras,M.E.; Santiago-Luna,E.; Sánchez-López,J.Y.
Gastric cancer (GC) is the third most lethal type of cancer worldwide. Single nucleotide polymorphisms (SNPs) in regulatory sites or coding regions can modify the expression of genes involved in gastric carcinogenesis, as ERBB2, which encodes for the tyrosine-kinase receptor HER-2. The aim of this work was to analyze the association of the polymorphisms: rs2643194, rs2517951, rs2643195, rs2934971, and rs1058808 with GC, as they have not yet been analyzed in GC patients, as well as to report their frequency in the general Mexican population (GMP). We studied genomic DNA from subjects with GC (n=74), gastric inflammatory diseases (GID, n=76 control subjects), and GMP (n=102). Genotypes were obtained by means of real-time PCR and DNA-sequencing. The risks for...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: ERBB2 gene; Gastric cancer; HER2; Polymorphisms.
Ano: 2019
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019000500611

The role of adrenergic receptor polymorphisms in heart failure
Provedor de dados: 56
Autores: Biolo,A.; Rosa,A.S.; Mazzotti,N.G.; Martins,S.; Belló-Klein,A.; Rohde,L.E.; Clausell,N.
The main function of the cardiac adrenergic system is to regulate cardiac work both in physiologic and pathologic states. A better understanding of this system has permitted the elucidation of its role in the development and progression of heart failure. Regardless of the initial insult, depressed cardiac output results in sympathetic activation. Adrenergic receptors provide a limiting step to this activation and their sustained recruitment in chronic heart failure has proven to be deleterious to the failing heart. This concept has been confirmed by examining the effect of ß-blockers on the progression of heart failure. Studies of adrenergic receptor polymorphisms have recently focused on their impact on the adrenergic system regarding its adaptive...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Heart failure; Adrenergic receptor; Polymorphisms.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001000003

Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals
Provedor de dados: 56
Autores: Souza,D.R.S.; Nakazone,M.A.; Pinhel,M.A.S.; Alvares,R.M.; Monaco,A.C.; Pinheiro,A.; Barros,C.F.D.C.; Cury,P.M.; Cunrath,G.S.; Netinho,J.G.
We evaluated genetic variants of apolipoprotein E (APOE HhaI) and their association with serum lipids in colorectal cancer (CRC), together with eating habits and personal history. Eight-seven adults with CRC and 73 controls were studied. APOE*2 (rs7412) and APOE*4 (rs429358) were identified by polymerase chain reaction-restriction fragment length polymorphism. APOE gene polymorphisms were similar in both groups, but the ε4/ε4 genotype (6%) was present only in controls. The patients had reduced levels (mean ± SD) of total cholesterol and low-density lipoprotein cholesterol fraction (180.4 ± 49.5 and 116.1 ± 43.1 mg/dL, respectively) compared to controls (204.2 ± 55.6, P = 0.135 and 134.7 ± 50.8 mg/dL; P = 0.330, respectively) indicating that they were not...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Apolipoprotein E; Colorectal cancer; Lipid profile; Polymorphisms.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000500001

Analysis of polymorphism at site -174 G/C of interleukin-6 promoter region in multiple myeloma
Provedor de dados: 56
Autores: Duch,C.R.; Figueiredo,M.S.; Ribas,C.; Almeida,M.S.S.; Colleoni,G.W.B.; Bordin,J.O.
It is well established that interleukin-6 (IL-6) is an essential growth factor for multiple myeloma (MM) and patients with increased IL-6 levels have a poor prognosis. In healthy subjects, the presence of the C allele at a polymorphic site (-174 G/C) of the IL-6 gene is related to low IL-6 levels. In view of the potential association of this particular polymorphism with IL-6 concentration, and the relevance of IL-6 in MM pathogenesis, the objective of the present study was to investigate the prevalence of IL-6 (-174 G/C) promoter polymorphism and its association with development of MM in Brazilian individuals. We investigated the prevalence of these alleles in 52 patients and 60 healthy subjects (matched by age, sex, and race) of a Brazilian population....
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Multiple myeloma; Interleukin-6; Polymorphisms.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000200014

Allelic frequencies of six polymorphic markers for risk of prostate cancer
Provedor de dados: 56
Autores: Ribeiro,M.L.; Santos,A.; Carvalho-Salles,A.B.; Hackel,C.
The aim of the present study was to evaluate the distribution of polymorphisms for the androgen receptor (AR) (CAG, StuI, GGN), SRD5A2 (Ala49Thr, Val89Leu) and CYP17 (MspA1) genes that are considered to be relevant for risk of prostate cancer. We studied 200 individuals from two cities in the State of São Paulo, by PCR, PCR-RFLP and ASOH techniques. The allelic frequencies of the autosomal markers and the StuI polymorphism of the AR gene were very similar to those described in most North American and European populations. In relation to the CAG and GGN number of repeats, the study subjects had smaller repeat lengths (mean of 20.65 and 22.38, respectively) than those described in North American, European and Chinese populations. In the present study, 30.5%...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Prostate cancer; Polymorphisms; AR; SRD5A2; CYP17.
Ano: 2002
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000200009

Association of CYP7A1 -278A&gt;C polymorphism and the response of plasma triglyceride after dietary intervention in dyslipidemic patients
Provedor de dados: 56
Autores: Barcelos,A.L.V.; Chies,R.; Almeida,S.E.M.; Fiegenbaum,M.; Schweigert,I.D.; Chula,F.G.L.; Rossetti,M.L.; Silva,C.M.D.
We investigated the effect of the -278A&gt;C polymorphism in the CYP7A1 gene on the response of plasma lipids to a reduced-fat diet for 6 to 8 weeks in a group of 82 dyslipidemic males with a mean age of 46.0 ± 11.7 years. Individuals who presented at least one high alteration in total cholesterol, low-density lipoprotein cholesterol or triglyceride values were considered to be dyslipidemic. Exclusion criteria were secondary dyslipidemia due to diabetes mellitus, renal, liver, or thyroid disease. None of the subjects were using lipid-lowering medication. Baseline and follow-up lipid concentrations were measured. The genotypes were determined by the digestion of PCR products with the BsaI restriction endonuclease. There were statistically significant...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Dyslipidemia; Polymorphisms; Diet; CYP7A1; Southern Brazil.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000600003

Relationship of IL-1 and TNF-α polymorphisms with Helicobacter pylori in gastric diseases in a Brazilian population
Provedor de dados: 56
Autores: Santos,J.C.; Ladeira,M.S.P.; Pedrazzoli Jr,J.; Ribeiro,M.L.
It is well known that the risk of development of gastric cancer (GC) in Helicobacter pylori-infected patients depends on several factors. Thus, the aim of this study was to investigate the effect of proinflammatory cytokine gene polymorphisms for IL-1β, IL-1RN and TNF-α on the development of GC in a Brazilian population. A total of 202 biopsies obtained from Brazilian patients with chronic gastritis and GC were included in the study. Infection with H. pylori cagA+ was determined by the polymerase chain reaction (PCR) as previously described. IL-1β, IL-1RN and TNF-α polymorphism genotyping was performed by restriction fragment length polymorphism PCR. Associations between gene polymorphisms, clinical diseases and virulence markers were evaluated using...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Chronic gastritis; Gastric cancer; Polymorphisms; Helicobacter pylori; Interleukins; IL-1β; IL-1RN; TNF-α.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000900004

Comparison of surfactant protein B polymorphisms of healthy term newborns with preterm newborns having respiratory distress syndrome
Provedor de dados: 56
Autores: Lyra,P.P.R.; Vaz,F.A.C.; Moreira,P.E.; Hoffmann,J.W.; de Mello,D.E.; Diniz,E.M.A.
Polymorphisms and mutations in the surfactant protein B (SP-B) gene have been associated with the pathogenesis of respiratory distress syndrome (RDS). The objective of the present study was to compare the frequencies of SP-B gene polymorphisms between preterm babies with RDS and healthy term newborns. We studied 50 preterm babies with RDS (inclusion criteria - newborns with RDS and gestational age between 28 and 33 weeks and 6 days), and 100 healthy term newborns. Four SP-B gene polymorphisms were analyzed: A/C at nucleotide -18, C/T at nucleotide 1580, A/G at nucleotide 9306, and G/C at nucleotide 8714, by PCR amplification of genomic DNA and genotyping by cRFLP. The healthy newborns comprised 42 female and 58 male neonates; 39 were white and 61...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Polymorphisms; Surfactant protein B; Respiratory distress syndrome.
Ano: 2007
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2007000600005

Mannose-binding lectin 2 (Mbl2) gene polymorphisms are related to protein plasma levels, but not to heart disease and infection by Chlamydia
Provedor de dados: 56
Autores: Queiroz,M.A.F.; Gomes,S.T.M.; Almeida,N.C.C.; Souza,M.I.M.; Costa,S.R.C.F.; Hermes,R.B.; Lima,S.S.; Zaninotto,M.M.; Fossa,M.A.A.; Maneschy,M.A.; Martins-Feitosa,R.N.; Azevedo,V.N.; Machado,L.F.A.; Ishak,M.O.G.; Ishak,R.; Vallinoto,A.C.R.
The presence of the single nucleotide polymorphisms in exon 1 of the mannose-binding lectin 2 (MBL2) gene was evaluated in a sample of 159 patients undergoing coronary artery bypass surgery (71 patients undergoing valve replacement surgery and 300 control subjects) to investigate a possible association between polymorphisms and heart disease with Chlamydia infection. The identification of the alleles B and D was performed using real time polymerase chain reaction (PCR) and of the allele C was accomplished through PCR assays followed by digestion with the restriction enzyme. The comparative analysis of allelic and genotypic frequencies between the three groups did not reveal any significant difference, even when related to previous Chlamydia infection....
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Mannose-binding lectin; Polymorphisms; Heart disease; Chlamydia.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2016001200604

Interleukin-6 promoter polymorphisms (-174 G/C) in Malaysian patients with systemic lupus erythematosus
Provedor de dados: 56
Autores: Chua,K.H.; Kee,B.P.; Tan,S.Y.; Lian,L.H.
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that involves the inflammation of various organs upon deposition of immune complexes and is characterized by uncontrolled B cell hyperactivity. Despite intensive research on the etiology of the disease, the exact cause of the onset of SLE is unknown. The pathogenesis of the disease has been proposed to be associated with the imbalance of T helper type 1 (Th1) and Th2 cytokine activities. Elevated serum levels of interleukin-6 (IL-6), a Th2 cytokine with various functions in the regulation of human biological systems, are observed in SLE patients. In the present study, 100 Malaysian SLE patients and 100 controls were evaluated in order to determine the association of polymorphisms existing...
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Interleukin-6; Systemic lupus erythematosus; Promoter; Polymorphisms.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2009000600012

Effect of polymorphisms of the MTHFR and APOE genes on susceptibility to diabetes and severity of diabetic retinopathy in Brazilian patients
Provedor de dados: 56
Autores: Errera,F.I.V.; Silva,M.E.R.; Yeh,E.; Maranduba,C.M.C.; Folco,B.; Takahashi,W.; Pereira,A.C.; Krieger,J.E.; Passos-Bueno,M.R.
Diabetes mellitus (DM) is a highly prevalent complex genetic disorder. There has been a worldwide effort in the identification of susceptibility genes for DM and its complications, and the 5-10-methylenetetrahydrofolate reductase (MTHFR) and apolipoprotein-E (APOE) genes have been considered good candidate susceptibility genes to this condition. The objectives of the present study were to determine if the 677T MTHFR and epsilon2/epsilon3/epsilon4 APOE alleles are risk factors for DM and for severity of diabetic retinopathy (DR). A total of 248 individuals were studied: 107 healthy individuals and 141 diabetic patients (46 with type 1 diabetes and 95 with type 2 diabetes), who also had DR (81 with non-proliferative DR and 60 with proliferative DR). The...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: APOE; MTHFR; Polymorphisms; Diabetes; Diabetic retinopathy.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000700005