Search results for "polymorphisms"

The Sicilian cattle breeds in a global context: genome-wide relationship with other worldwide cattle

2015

Genomic technologies, such as high-throughput genotyping based on Single Nucleotide Polymorphism (SNP) arrays, provide background information concerning genome structure in domestic animals. The aims of this study were to cluster animals, to explore the relationships among and within breeds, and to place the Sicilian breeds, Cinisara and Modicana, in a global context. The Illumina Bovine SNP50K v2 BeadChip genotyping data from 144 animals of Sicilian breeds and from other 1,543 animals belonging to 134 domesticated bovid breeds (DRYAD) were used. These breeds arose from 3 domesticated (sub)species: Bos javanicus, B. taurus indicus, and B. t. taurus. Principal Component Analysis (PCA) genera…

Survey of milk protein polymorphism in the "Rossa Siciliana" dairy cattle

2005

“Rossa Siciliana” is a dairy cattle population traditionally linked to cheese production protein polymorphisms from 62 individual milk samples from 19 farms were analyzed by isoelectrofocusing. High variability was found at the CNS1S1, CSN2, CSN3, LGB and LALBA loci, while the CNS1S2 locus was monomorphic for the A allele. The casein haplotype frequencies and the occurrence of the linkage disequilibrium, taking into account the association among loci were investigated. The population was not in Hardy-Weinberg equilibrium (Chi-square=19.0, p-value=0.0407), probably due to genetic drift. Frequencies of the three allele detected at CSN1S1 locus were B (0.734), C (0.258) and D (0.008). high fre…

PPARα GENE VARIANTS AS PREDICTED PERFORMANCE ENHANCING POLYMORPHISMS IN PROFESSIONAL ITALIAN SOCCER PLAYERS

2012

THE ROLE OF POLYMORPHISM OF TIOPURINE METHYLTRANSFERASE IN THERAPY WITH AZATHIOPRINE. PRELIMINARY STUDY

2017

Azathioprine is an immunosuppressive medication used in the treatment of inflammatory diseases (MICI). Despite its extensive use in therapy, azathioprine can result in serious side effects such as myelosuppression. The likelihood of developing myelosuppression also depends on genetic factors: one of the enzymes involved in drug metabolism, methyltransferase tiopurine (TPMT), is subject to genomic polymorphism. To date, 40 polymorphisms have been identified, of which three are associated with a reduction in enzymatic activity. These are TPMT*2, TPMT*3A and TPMT*3C polymorphisms. TPMT*1 is the wild-type coding form for an enzyme capable of efficiently metabolizing the drug. The objective of t…

Analysis of UGT1A1*28 and DPYD*2A polymorphisms in Sicilians patients with metastatic colorectal cancer treated with Irinotecan and 5-fluorouracil.

2013

Genetic polymorphisms and epigenetics changes in human metabolizing enzymes genes to predict differential therapeutic drug effects

2013

It has been understood that genetic variability can influence individual ability to metabolize drugs (Kiyohara C. et al., 2002). In particular, sequence changes into some genes give to subject a variable capability to response to a therapy protocol, to begin a resistance toward therapeutic drugs or, on the contrary, to be more sensible to it: the genes of CYP-family, CYP2A6 and CYP2E1, are good examples. Nevertheless, gene expression can be affected either by DNA sequence mutations (polymorphisms) or by “epigenetic modifications”, such as DNA methylation of a CpG islands in a gene promoter ion (Zhu J. et al., 2009). For these reasons, it is indispensable, today, to integrate genetic analyse…

Farmacogenética de la Tuberculosis: Nuevo modelo de predicción de hepatotoxicidad inducida por fármacos antituberculosis

2017

Introducción: La hepatotoxicidad inducida por fármacos antituberculosis (HIFA) es una reacción adversa grave y potencialmente fatal del tratamiento de la tuberculosis (TB). Tres de los cuatro fármacos utilizados como terapia de primera línea (isoniacida, rifampicina, pirazinamida), han sido asociados a HIFA. Estudios sobre farmacogenética de la TB han asociado el desarrollo de HIFA con variaciones en genes de enzimas que metabolizan estos fármacos. Objetivos: Debido a que en Argentina la TB es una enfermedad re-emergente y a la elevada prevalencia de HIFA encontrada en pacientes internados, nos propusimos evaluar la posible asociación de factores ambientales y variantes genéticas en enzimas…

Value of polymorphisms and DNA methylation for the expression of CYP2E1 enzyme: implications in pharmacogenomics

2014

Different individuals possess slightly different genetic information and show genetically-determined differences in several enzyme activities due to genetic variability. Following an integrated approach, we studied the polymorphisms and DNA methylation of the 5′ flanking region of the metabolizing enzyme CYP2E1 in correlation to its expression in both tumor and non-neoplastic liver cell lines, since to date little is known about the influence of these (epi)genetic elements in basal conditions and under induction by the specific inductor and a demethylating agent. In treated cells, reduced DNA methylation, assessed both at genomic and gene level, was not consistently associated with the incr…

Variable Number of Tandem Repeats (VNTR) gene polymorphism of CYP2E1 in patients with pancreatic adenocarcinoma

2010

Context: The genetic polymorphism is considered a major source of variability, influencing the levels of gene expression. Cytochrome P450 2E1 (CYP2E1) is a mixed-function oxidase involved in the metabolism of the many endogenous and exogenous substances (ethanol, chemical carcinogens) in the hepatic and pancreatic tissue. CYP2E1 gene polymorphisms can cause various abilities of metabolize xenobiotic substances within a population with consequent increased susceptibility to various diseases,including cancer. One of the polymorphisms of the CYP2E1 gene is a VNTR (Variable Number Tandem Repeat) of some sequences in its "5 '- flanking region. Method : VNTR genotype CYP2E1 was determined by RFLP…

CYP2E1 VNTR genotyping associated to anti–tuberculosis drug-induced hepatotoxicity

2015

Tuberculosis (TB) remains a major worldwide health problem with an estimated of 9.0 million of new cases and 1.5 million of deaths in 2013. Anti–TB drug-induced hepatotoxicity (ATDH) is considered the most serious and prevalent adverse drug reaction in TB treatment. Isoniazid (INH), one of the first-line drugs against TB, is more commonly associated to ATDH and, it is well known that the enzyme Citochrome P450 2E1 (CYP2E1) is involved in INH metabolism. It has been found that variable number tandem repeat (VNTR) polymorphic sequences in the promoter region regulate negatively CYP2E1 gene transcription: consequently, it could be put in relationship with adverse TB-drugs reactions. In this re…