Search results for "polymorph"

Biochemical genetic differentiation between Pomatoschistus marmoratus and P. tortonesei

1999

Several diagnostic genetic markers were identified in Pomatoschistus marmoratus and P. tortonesei using polyacrylamide gel electrophoresis (PAGE) of allozymes. Twenty-one loci were resolved, including the electrophoretic pattern of muscle proteins. The MDH*, PGM1,2*, EST-1,2*, FUM* and PGI-2* loci exhibited different alleles which were fixed for the two species being analysed. Genetic distance, as calculated by Nei's index, showed a value of 0.413. Environmental hypersalinity, could have influenced the geographical distribution of P. tortonesei.

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…

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…

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…

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

2013

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…