Consulta: subjectFacets:"Gene polymorphism"
Registros recuperados: 14
Data/hora: 01/06/2024 00:59:00

Genotypic diversity of the Killer Cell Immunoglobulin-like Receptors (KIR) and their HLA class I Ligands in a Saudi population
Provedor de dados: 74
Autores: Omar,Suliman Y. Al; Alkuriji,Afrah; Alwasel,Saleh; Dar,javid Ahmed; Alhammad,Alwaleed; Christmas,Stephen; Mansour,Lamjed.
Abstract Killer Cell Immunoglobulin-like Receptors (KIR) have been used as good markers for the study of genetic predisposition in many diseases and in human genetic population dynamics. In this context, we have investigated the genetic diversity of KIR genes and their main HLA class I ligands in Saudi population and compared the data with other studies of neighboring populations. One hundred and fourteen randomly selected healthy Saudi subjects were genotyped for the presence or absence of 16 KIR genes and their HLA-C1, -C2, -Bw4Thr80 and Bw4Ile80 groups, using a PCR-SSP technique. The results show the occurrence of the framework genes (3DL2, 3DL3 and 2DL4) and the pseudogenes (2DP1 and 3DP1) at highest frequencies. All inhibitory KIR (iKIR) genes...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: KIR diversity; Gene polymorphism; Molecular evolution; PCR SSP; Population viability analysis.
Ano: 2016
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000100014

(TTTA)n polymorphism of CYP19 (aromatase gene) in Euro- and Afro-Brazilians
Provedor de dados: 74
Autores: Kvitko,Kátia; Nunes,Janice Corrêa de Barros; Hutz,Mara Helena.
We investigated the polymorphic tetranucleotide repeat (TTTA)n located in the fourth intron of the CYP19 gene in two Brazilian populations. The frequencies of the five common alleles (A) in Euro- and Afro-Brazilians were, respectively: seven repeats (A5), 0.586 and 0.80; eight repeats (A4), 0.092 and 0.06; nine repeats (A3), 0.014 and 0.01; eleven repeats (A2), 0.284 and 0.09; twelve repeats (A1), 0.021 and 0.04. In addition, one Euro-Brazilian individual had a rare allele with 13 repeats. The allelic frequencies in Euro- and Afro-Brazilians differed statistically (p &lt; 10-3). The two samples were found to be in Hardy-Weinberg equilibrium (p = 0,828 and p = 0,995).
Tipo: Info:eu-repo/semantics/article
Palavras-chave: CYP19; Gene polymorphism.
Ano: 2004
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300005

Polymorphism of the catechol-O-methyltransferase gene   in Han Chinese patients with psoriasis vulgaris
Provedor de dados: 74
Autores: Gao,Lin; Gao,Lin; Li,Hong; Li,Hong; Li,Kai; Li,Kai; Shen,Zhu; Liu,Ling; Li,Chunying; Zhang,Zhengdong; Liu,Yufeng.
Psoriasis vulgaris is defined by a series of linked cellular changes in the skin: hyperplasia of epidermal keratinocytes, vascular hyperplasia and ectasia, and infiltration of T lymphocytes, neutrophils and other types of leukocytes in the affected skin. Catechol-O-methyltransferase ( COMT )  158  polymorphism can reduce the activity of the COMT enzyme that may trigger defective differentiation of keratinocytes in psoriasis. Immunocytes can degrade and inactivate catecholamines via monamine oxidase (MAO) and COMT in the cells. We hypothesized that the  COMT-158  G  &gt;  A  polymorphism was associated with the risk of psoriasis vulgaris in Han Chinese people. In a hospital-based case-control study, 524 patients with psoriasis vulgaris and 549...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: COMT; Gene polymorphism; Genetic susceptibility; Psoriasis.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572009000100005

Polymorphisms in the glutathione S-transferase theta and mu genes and susceptibility to myeloid leukemia in Brazilian patients
Provedor de dados: 74
Autores: Souza,Claudio Lima; Barbosa,Cynara Gomes; Moura Neto,José Pereira de; Barreto,José Henrique; Reis,Mitermayer Galvão; Gonçalves,Marilda Souza.
The null genotype for glutathione S-transferase (GST, EC 2.5.1.18) gene polymorphisms is considered a risk factor for leukemia in different populations. In this work we investigated the GSTT1 and GSTM1 polymorphisms using multiplex PCR in 53 patients with chronic myeloid leukemia (CML), 23 with acute promyelocytic leukemia (APL) and 304 apparently healthy controls. In this association study we found that the GSTT1null genotype was more frequent in our group of APL patients than in the control group [OR = 2.75 (95% CI = 1.10-6.88)], providing evidence that a deletion in the GSTT1 gene could be a risk factor for this type of leukemia.
Tipo: Info:eu-repo/semantics/other
Palavras-chave: Acute promyelocytic leukemia; Chronic myeloid leukemia; GSTM1; GSTT1; Gene polymorphism.
Ano: 2008
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000100008

Differential allelic expression of IL13 and CSF2 genes associated with asthma
Provedor de dados: 74
Autores: Burkhardt,Jana; Kirsten,Holger; Wolfram,Grit; Quente,Elfi; Ahnert,Peter.
An important area of genetic research is the identification of functional mechanisms in polymorphisms associated with diseases. A highly relevant functional mechanism is the influence of polymorphisms on gene expression levels (differential allelic expression, DAE). The coding single nucleotide polymorphisms (SNPs) CSF2rs25882 and IL13rs20541 have been associated with asthma. In this work, we investigated whether the mRNA expression levels of CSF2 or IL13 were correlated with these SNPs. Samples were analyzed by mass spectrometry-based quantification of gene expression. Both SNPs influenced gene expression levels (CSF2rs25882: p overall = 0.008 and pDAE samples = 0.00006; IL13rs20541: p overall = 0.059 and pDAE samples = 0.036). For CSF2, the expression...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Candidate gene; Gene expression; Gene polymorphism; QTL.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000400004

β-casein gene polymorphism permits identification of bovine milk mixed with bubaline milk in mozzarella cheese
Provedor de dados: 74
Autores: Otaviano,Antonio R.; Lima,André Luis F.; Laureano,Monyka M.M.; Sena,Janete A.D.; Albuquerque,Lúcia G. de; Tonhati,Humberto.
Mozzarella cheese is traditionally prepared from bubaline (Bubalus bubalis) milk, but product adulteration occurs mainly by addition of or full substitution by bovine milk. The aim of this study was to show the usefulnes of molecular markers to identify the admixture of bovine milk to bubaline milk during the manufacturing process of mozzarella cheese. Samples of mozzarella cheese were produced by adding seven different concentrations of bovine milk: 0%, 1%, 2%, 5%, 8%, 12% and 100%. DNA extracted from somatic cells found in cheese were submitted to PCR-RFLP analysis of casein genes: α-s1-CN - CSN1S1 that encompasses 954 bp from exon VII to intron IX (Alu I and Hinf I), β-CN - CSN2 including 495 bp of exon VII (Hae III and Hinf I), and κ-CN - CSN3,...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Casein; Gene polymorphism; Mozarella; Cheese authentication; PCR-RFLP.
Ano: 2008
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500017

Assessment of genetic mutations in the XRCC2 coding region by high resolution melting curve analysis and the risk of differentiated thyroid carcinoma in Iran
Provedor de dados: 74
Autores: Fayaz,Shima; Fard-Esfahani,Pezhman; Fard-Esfahani,Armaghan; Mostafavi,Ehsan; Meshkani,Reza; Mirmiranpour,Hossein; Khaghani,Shahnaz.
Homologous recombination (HR) is the major pathway for repairing double strand breaks (DSBs) in eukaryotes and XRCC2 is an essential component of the HR repair machinery. To evaluate the potential role of mutations in gene repair by HR in individuals susceptible to differentiated thyroid carcinoma (DTC) we used high resolution melting (HRM) analysis, a recently introduced method for detecting mutations, to examine the entire XRCC2 coding region in an Iranian population. HRM analysis was used to screen for mutations in three XRCC2 coding regions in 50 patients and 50 controls. There was no variation in the HRM curves obtained from the analysis of exons 1 and 2 in the case and control groups. In exon 3, an Arg188His polymorphism (rs3218536) was detected as a...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: DNA repair; Gene polymorphism; Mutation analysis.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000100004

Future perspective for diagnosis in autoimmune diseases
Provedor de dados: 42
Autores: Andrade,Luis E. C.
Human beings have taken successive approaches for the understanding and management of diseases. Initially brewed in supernatural concepts and mystical procedures, a vigorous scientific approach has emerged on the grounds of fundamental disciplines such as anatomy, microbiology, biochemistry, physiology, immunology, pathology, and pharmacology. The resulting integrated knowledge contributed to the current classification of diseases and the way Medicine is carried out today. Despite considerable progress, this approach is rather insufficient when it comes to systemic inflammatory conditions, such as systemic lupus erythematosus, that covers clinical conditions ranging from mild pauci-symptomatic diseases to rapidly fatal conditions. The treatment for such...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Autoimmunity; Pharmacogenetics; Gene polymorphism; Auto-inflammatory diseases; Systemic lupus erythematosus; Rheumatoid arthritis.
Ano: 2009
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652009000300004

Effects of R219K polymorphism of ATP-binding cassette transporter 1 gene on serum lipids ratios induced by a high-carbohydrate and low-fat diet in healthy youth
Provedor de dados: 48
Autores: Liu,Hui; Lin,Jia; Zhu,Xing Chun; Li,Yuan Hao; Fan,Mei; Zhang,Rong Rong; Fang,Ding Zhi.
BACKGROUND: Diets are the important players in regulating plasma lipid profiles. And the R219K polymorphism at the gene of ATP-binding cassette transporter 1(ABCA1) was reported to be associated with the profiles. However, no efforts have been made to investigate the changes of lipid profiles after a high-carbohydrate and low-fat diet in different subjects with different genotypes of this polymorphism. This study was to evaluate the effects of ABCA1 R219K polymorphism on serum lipid and apolipoprotein (apo) ratios induced by a high-carbohydrate/low-fat (high-CHO) diet. After a washout diet of 54.1% carbohydrate for 7 days, 56 healthy young subjects (22.89&amp;#8201;±&amp;#8201;1.80 years old) were given a high-CHO diet of 70.1% carbohydrate for 6 days....
Tipo: Journal article
Palavras-chave: Apolipoprotein; ATP-binding cassette transporter 1 gene; Gene polymorphism; High-carbohydrate/low-fat diet; Lipid ratios.
Ano: 2014
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602014000100004

Association between MFN2 gene polymorphisms and the risk and prognosis of acute liver failure: a case-control study in a Chinese population
Provedor de dados: 56
Autores: Wei,Y.-L.; Tian,Q.; Zhao,X.-X.; Qiu,G.-Z.; Xu,Y.
This study aimed to determine the role of mitofusin 2 (MFN2) gene polymorphisms in the risk and prognosis of acute liver failure (ALF). A total of 298 blood samples were collected from 138 ALF patients (case group) and 160 healthy participants (control group). Coagulation function, glutamic pyruvic transaminase (GPT), glutamic oxaloacetic transaminase (GOT), total bilirubin (TB), blood ammonia and lactic acid (LA) were measured. The predictive evaluation of MFN2 gene polymorphisms in the risk and prognosis of ALF patients was estimated using Kaplan-Meier survival analysis, haplotype analysis, binary logistic regression analysis and Cox regression analysis. Higher levels of GPT, GOT, TB, blood ammonia and LA were observed in ALF patients with the GG...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Acute liver failure; MFN2; Gene polymorphism; Risk; Prognosis; Chinese population.
Ano: 2017
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2017000600605

Association of MICA gene polymorphisms with liver fibrosis in schistosomiasis patients in the Dongting Lake region
Provedor de dados: 56
Autores: Gong,Zheng; Luo,Qi-Zhi; Lin,Lin; Su,Yu-Ping; Peng,Hai-Bo; Du,Kun; Yu,Ping; Wang,Shi-Ping.
Major histocompatibility complex class I chain-related A (MICA) is a highly polymorphic gene located within the MHC class I region of the human genome. Expressed as a cell surface glycoprotein, MICA modulates immune surveillance by binding to its cognate receptor on natural killer cells, NKG2D, and its genetic polymorphisms have been recently associated with susceptibility to some infectious diseases. We determined whether MICA polymorphisms were associated with the high rate of Schistosoma parasitic worm infection or severity of disease outcome in the Dongting Lake region of Hunan Province, China. Polymerase chain reaction-sequence specific priming (PCR-SSP) and sequencing-based typing (SBT) were applied for high-resolution allele typing of...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Schistosoma japonicum; MICA; NKG2D; Gene polymorphism; Liver fibrosis.
Ano: 2012
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2012000300007

A high-carbohydrate diet enhances the adverse effect of the S2 allele of APOC3 SstI polymorphism on the TG/HDL-C ratio only in young Chinese females
Provedor de dados: 56
Autores: Song,Yong Yan; Gong,Ren Rong; Zhang,Zhen; Li,Yuan Hao; Xiao,Li Ying; Zhou,Xue Dong; Fang,Ding Zhi.
Both genetic background and diet have profound effects on plasma lipid profiles. We hypothesized that a high-carbohydrate (high-CHO) diet may affect the ratios of serum lipids and apolipoproteins (apo) differently in subjects with different genotypes of the SstI polymorphism in the apoCIII gene (APOC3). Fifty-six healthy university students (27 males and 29 females, 22.89 ± 1.80 years) were given a washout diet of 54% carbohydrate for 7 days, followed by a high-CHO diet of 70% carbohydrate for 6 days without total energy restriction. Serum triglyceride (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apoB100, apoAI, and the APOC3 SstI polymorphism were analyzed. The ratios of serum...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: High-carbohydrate diet; Lipid ratio; Gene polymorphism; Human APOC3.
Ano: 2011
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000600005

CYP1A1 and GSTP1 polymorphisms in an oral cancer case-control study
Provedor de dados: 56
Autores: Leichsenring,A.; Losi-Guembarovski,R.; Maciel,M.E.; Losi-Guembarovski,A.; Oliveira,B.W.; Ramos,G.; Cavalcanti,T.C.S.; Bicalho,M.G.; Cavalli,I.J.; Cólus,I.M.S.; Ribeiro,E.M.S.F.
CYP1A1 and GSTP1 polymorphisms have been associated with a higher risk to develop several cancers, including oral squamous cell carcinoma (OSCC), which is closely related to tobacco and alcohol consumption. Both genes code for enzymes that have an important role in activating or detoxifying carcinogenic elements found in tobacco and other compounds, and polymorphic variants of these genes may result in alterations of the enzymatic activity. The CYP1A1 gene codes for the enzyme aryl hydrocarbon hydroxylase, which is responsible for the metabolism of polycyclic aromatic hydrocarbons. The investigated polymorphism, Ile/Val, seems to increase the activity of the enzyme in homozygous individuals, leading to an accumulation of carcinogens. The Ile/Val...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Oral carcinoma; Biometabolism genes; CYP1A1; GSTP1; Gene polymorphism.
Ano: 2006
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200007

Pharmacogenetic implications in the management of metabolic diseases in Brazilian populations
Provedor de dados: 60
Autores: Hirata,Rosario Dominguez Crespo; Cerda,Alvaro; Genvigir,Fabiana Dalla Vecchia; Hirata,Mario Hiroyuki.
Dyslipidemia, diabetes, obesity and hypertension are common metabolic diseases. In the last decades, unhealthy lifestyle and aging have leads to an increased incidence of these diseases, increasing morbidity and mortality by cardiovascular causes. The treatment of metabolic diseases includes life-style interventions as healthy diet and physical exercise, as well as pharmacological interventions. Several drugs are available for the management of metabolic diseases including among others lipid-lowering antidiabetics and antihypertensive drugs. Variability in response to these drugs is influenced by both genetic and non-genetic factors. Polymorphisms in genes related to drug pharmacokinetics and pharmacodynamics have been shown to influence drug efficacy and...
Tipo: Info:eu-repo/semantics/article
Palavras-chave: Pharmacogenetics; Metabolic diseases; Gene polymorphism; Drug response.
Ano: 2018
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1984-82502018000700404