Search results for "SNP"

Pharmacogenetics in Neuroblastoma: What Can Already Be Clinically Implemented and What Is Coming Next?

2021

Pharmacogenetics is one of the cornerstones of Personalized Precision Medicine that needs to be implemented in the routine of our patients’ clinical management in order to tailor their therapies as much as possible, with the aim of maximizing efficacy and minimizing toxicity. This is of great importance, especially in pediatric cancer and even more in complex malignancies such as neuroblastoma, where the rates of therapeutic success are still below those of many other types of tumors. The studies are mainly focused on germline genetic variants and in the present review, state of the art is presented: which are the variants that have a level of evidence high enough to be implemented in the c…

Los niveles plasmáticos de IL-18 se relacionan con la insulinemia y están modulados por polimorfismos del gen de IL-18

2015

INTRODUCTION Atherosclerosis is an inflammatory chronic disease influenced by multiple factors. Different prospective studies have shown that plasmatic levels of inflammatory markers were related to atherosclerosis and cardiovascular disease. OBJECTIVE To evaluate whether plasmatic levels of interleukin 18 (IL-18) are modulated by SNPs (single nucleotide polymorphisms) of the IL 18 gene and its possible association with insulin levels and other cardiovascular risk factors. METHODS 746 individuals were studied for a period of two years by opportunistic selection in the metropolitan area of Valencia. Parameters of lipid and glucose metabolism were analyzed by standard methodology. IL-18 was m…

Correlation between clinical and radiographic classification of osteoarthritis and SNPs linked to osteoarthritis susceptibility

2013

Frequency of polymorphisms of signal peptide of TGF-beta1 and -1082G/A SNP at the promoter region of Il-10 gene in patients with carotid stenosis

2006

The role of inflammation in atherosclerosis is well recognized. We have evaluated the allele frequencies of the +869T/C and +915G/C polymorphisms (SNPs) at the TGF-beta1 gene and -1082G/A SNP at IL-10 promoter sequence, two well-known immunosuppressive and anti-inflammatory cytokines, in patients with carotid stenosis. Our data suggest a lack of association between these SNPs and the susceptibility to atherosclerosis although other reports have demonstrated this association. These results may be due to the pleiotropic effects of the cytokines and/or differences in haplotype combination that should be investigated to elucidate the role of TGF-beta1 and IL-10 polymorphisms in atherosclerosis.

Interleukin 10 polymorphisms in ankylosing spondylitis.

2003

Genetic polymorphisms of the IL10 promoter region have been implicated in many autoimmune diseases, including seronegative spondyloarthropathies. We studied three SNPs (IL10-1087, -824, and -597) and two microsatellites (IL10R and IL10G) lying within the promoter region of IL10 for association with susceptibility to and clinical manifestations of ankylosing spondylitis (AS), a common form of spondyloarthritis. Four hundred and sixty-eight individuals from 182 Finnish families affected with AS were studied. No association between individual IL10 promoter region polymorphisms or marker haplotype was observed with susceptibility to AS, but weak association was noted between the IL10-597 and -8…

Integración de la genómica en la modelización de los tumores neuroblásticos = Integration of genomics in neuroblastic tumors modeling

2015

*Introducción: El neuroblastoma es un tumor maligno embrionario del sistema nervioso simpático con una gran heterogeneidad en la presentación clínica, morfológica y genética y en otras características biológicas. La estratificación de grupos de riesgo pretratamiento se basa en los siguientes factores: edad, estadio, histopatológica del tumor, estado del oncogén MYCN, integridad del brazo cromosómico 11q y ploidía. Por otra parte, los cambios numéricos y estructurales detectados en el perfil genético se han incluido recientemente en la estratificación terapéutica de los pacientes con bajo riesgo a recaer o morir. El amplio espectro clínico de la enfermedad va desde pacientes con neuroblastom…

Elaboration of a list of substances of interest as regards to a potential endocrine activity and prioritisation strategy for assessment

2021

Endocrine Disruptor Chemicals (EDCs) are substances that alter function(s) of the endocrine system and consequently cause adverse health effects. The endocrine system consists of many cells and tissues that interact with each other and the rest of the body by means ofhormones. This system is responsible for controlling a large number of processes in the body from gamete formation, to conception and early developmental processes such as organogenesis, and to most tissue and organ functions throughout life. EDCs interfere withendocrine function by many ways and, in doing so, lead to adverse effects on the health of humans and/or wildlife. Some of the observed health effects associated with ED…

AGE6. Skin Ageing: Focus on the Role of Inflammatory Genetic Factors in Cutaneous Neoplasia

2014

AGE6. Skin Ageing: Focus on the Role of Inflammatory Genetic Factors in Cutaneous Neoplasia C. M. Gambino1, F. Crapanzano1, G. Accardi1, A. Aiello1, C. Virruso1, G. Pistone1, M. R. Bongiorno1, D. Lio1, C. R. Balistreri1, G. Candore1 1University of Palermo, Palermo, Italy Background: Skin aging is a complex process that involves intrinsic and exogenous causes. Photo-oxidative damage caused by UV is the leading cause of extrinsic aging of the skin, known as photo-ageing. UV damages can be linked mostly to overproduction of ROS that induces a complex molecular cascade able to accelerate physiological aging, determining a typical dermal/epidermal inflammation with an increased risk of getting s…

Investigation of coat colour affecting genes in several sheep breeds

2009

β-lactoglobulin gene promoter: new SNPs in sheep and goat

2008

β-lactoglobulin (β-lg) is the major whey protein in milk of ruminants and several non ruminant species, but it is lacking in rodents, lagomorphs and human. The aim of this work was sequencing the promoter region of β-lg gene in Sicilian sheep and goat dairy breeds, in order to identify polymorphisms. In these species, the promoter region was aligned using the sequences available on database. A common set of primers was designed to amplify and sequence a fragment of approximately 2.1 kb. Within this region, 12 single nucleotide polymorphisms (SNPs) were identified in goat breeds: 7 out of them were not yet reported in literature. Moreover, in sheep breeds 15 SNPs were newly identified. Using…