Search results for " polymorphism"

Interaction between stearoyl-coenzyme A desaturase polymorphism and feeding system in affecting the fatty acid profile of sheep cheese

2021

Stearoyl-coenzyme A desaturase (SCD) catalyses the synthesis of monounsaturated fatty acids, by introducing a cis double bond at the delta 9–10 position. The study investigated the effects of a polymorphism at the ovine SCD gene and its interaction with the inclusion of fresh forage in the diet on cheese fatty acid (FA) composition in Valle del Belice ewes. A region of 527 bp of the ovine SCD gene including the partial sequence of the promoter, the complete sequence of the 5’ UTR and exon 1 and the partial sequence of intron 1 were analyzed in order to identify the g.87C > A SNP located in the promoter region. A feeding trial was carried out using 16 Valle del Belice ewes selected on the…

Genetic diversity in five populations of Galanthus from Sicily using isozymes

2009

Polymorphism of ITS1 and ITS2 regions within and between three distant population of Schizophyllum commune

2017

Schizophyllum commune is one of the most widely distributed fungi and can be isolated from all continents, except for Antarctica. It has an important role as wood decomposer since it is mostly found on fallen branches and timber of deciduous trees, but it can also colonize softwood as well as grass silage. As an edible and medicinal mushroom, it has been shown to have various biological functions including anti-tumor, antioxidative and anti-inflammatory activity. Investigation of molecular diversity of this cosmopolitan species is important since it can make us understand what genetic traits are important in maintaining the global success of this species. In this study we analyzed polymorph…

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

2012

APOE and longevity: study of a population of Sardinian Centenarians

2011

Apolipoprotein E is a major determinant in lipoprotein metabolism and cardiovascular disease, it has emerged as an important molecule in several biological processes including Alzheimer's disease and cognitive function. ApoE is a polymorphic protein (ε2, ε3, ε4) with three proteic isoforms, ApoE2, ApoE3, ApoE4 (1). The aim of the study was to verify the frequencies of allelic variants a population of healthy elderly people. ApoE polymorphisms were determined by Real Time-PCR. The genotype frequencies of ApoE in our group of 71 centenarians (mean age 100.9 ±1.3) were: ε2/ε3 (12.67%); ε3/ε4 (5.63%). In the control group, consisting of 97 individuals (mean age 92.98 ±2.53), the genotype freque…

Expression of a specific Thymidylate synthase polimorfic allele in metastatic colorectal patients is regulated by Myeloid Zinc Finger 1.

2013

Thymidylate Synthase (TS) is the target enzyme for fluoropyrimidine anticancer drugs. Its expression is regulated by the number of functional upstream stimulatory factor (USF) E box consensus elements present on its 5’ untranslated region. To date are known different polymorphisms, the first one consisting of 2 or 3 repeat of a 28 bp sequence, a further single nucleotide polymorphism (SNP) consisting in a G>C substitution within the second repeat of 3R (3RG>3RC) and recently it has been identified an additional SNP a G>C substitution at the 12th nucleotide in the first repeat of the 2R allele (2RG>2RC). These polymorphisms can influence TS expression, in particular 3R/3R genotype and the pr…

Prevalence of IL-1B+3954 and IL-1a-889 Polymorphisms in The lebanese Population and its association with the severity of adult chronic periodontitis

2012

Pro-inflammatory cytokine, i.e., IL-1 mediate the inflammatory response and are genetically regulated in periodontal diseases. Strong association was found between the composite genotype allele 2 of IL-1β+3954 and IL-1α-889 and severe chronic periodontitis. The aim of this study is to determine the prevalence of IL-1β+3954 and IL-1α-889 polymorphism in a group of Lebanese individuals of homogeneous ethnicity and the possible association between genotype positive individuals and the severity of periodontal disease. One hundred and fifty-seven patients aged 53.29±13.13 years participated in the study. Subjects were classified as follows: 1) healthy subjects with no attachment loss >1mm and no…

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…