Search results for "single-nucleotide polymorphism"
showing 10 items of 501 documents
Comparison of genetic risk prediction models to improve prediction of coronary heart disease in two large cohorts of the MONICA/KORA study
2021
Abstract It is still unclear how genetic information, provided as single‐nucleotide polymorphisms (SNPs), can be most effectively integrated into risk prediction models for coronary heart disease (CHD) to add significant predictive value beyond clinical risk models. For the present study, a population‐based case‐cohort was used as a trainingset (451 incident cases, 1488 noncases) and an independent cohort as testset (160 incident cases, 2749 noncases). The following strategies to quantify genetic information were compared: A weighted genetic risk score including Metabochip SNPs associated with CHD in the literature (GRSMetabo); selection of the most predictive SNPs among these literature‐co…
Revisiting the metallothionein genes polymorphisms and the risk of oral squamous cell carcinoma in a Brazilian population
2020
Background Metallothioneins (MTs) gene polymorphisms have been associated with the ability of free radical scavenging and detoxification of heavy metals leading to cancer development. Our aim was to revisit, in a Brazilian population, single-nucleotide polymorphisms (SNPs) of the MT gene family previously associated with oral squamous cell carcinoma (OSCC). Material and Methods A case-control investigation with 28 OSCC patients and 45 controls was conducted, using conventional risk factors (tobacco use and alcohol consumption) as covariates. SNPs genotyping for rs8052334 (MT1B), rs964372 (MT1B), and rs1610216 (MT2A) was performed by PCR-RFLP, and SNPs for rs11076161 (MT1A) were analyzed by …
Prognostic Impact of Vegfa in Resectable Non-Small-Cell Lung Cancer
2014
ABSTRACT Aim: Angiogenesis is a main process which happens in tumors and that promotes its growth, invasive capacity and metastasis. Host genetic variability within VEGF pathway may affect angiogenic signaling and alter patient's sensitivity to anti-angiogenic therapies and therefore the prognostic. The goal in the present study is to analyze the prognostic value of several SNPs in angiogenic genes and the relative expression of those genes, using a cohort of patients diagnosed with resectable non-small cell lung cancer. Methods: This study included 127 resectable (I-IIIA) NSCLC patients. RNA and DNA extractions from tissues were performed using Trizol®. 20 ng of DNA were used for studies o…
MTHFR and VDR Polymorphisms Improve the Prognostic Value of MYCN Status on Overall Survival in Neuroblastoma Patients
2020
Single nucleotide polymorphisms (SNPs) in Pharmacogenetics can play an important role in the outcomes of the chemotherapy treatment in Neuroblastoma, helping doctors maximize efficacy and minimize toxicity. Employing AgenaBioscience MassArray, 96 SNPs were genotyped in 95 patients looking for associations of SNP with response to induction therapy (RIT) and grade 3&ndash
Identification and Characterization of Single Nucleotide Polymorphisms (SNPs) Associated with Genetic Predisposition to Develop Therapy-Related Acute…
2004
Introduction: Polymorphisms in certain genes involved on chemo/radio therapy response, as genes involved on DNA synthesis and repair, oxidative stress and drug detoxification, could be related to increased risk of develop t-AML. Objectives: To identified SNPs on genes that could be involved on putative risk of developing t-AML. To analyse the influence of relevant polymorphisms between groups of patients depending of the intensity and the type of treatment received. Material and Methods: Twelve polymorphisms located on genes from drug detoxification pathways (NOQ1, GSTP1), DNA repair (XPC[3], XRCC1[2], NBS1, ERCC5 and XRCC3) and DNA synthesis (MTHFR[2]) were studied. The analysis was carrie…
rs2431697, a Polymorphism of Mir-146a, Is a Precozing Marker of Progression to Secondary Myelofibrosis: New Epigenetic Regulation of Jak/Stat3 Signal…
2018
Abstract Introduction: Transformation to secondary myelofibrosis (MF) occurs as part of the natural history of polycythemia vera (PV) and essential thrombocythemia (ET), the two more indolent Ph-negative myeloproliferative neoplasms (MPN). Once transformed, survival is remarkably shorted. Chronic inflammation plays a critical role in the progression of MPN, driving clonal expansion toward end stage disease. Importantly, MPN are characterized by the production of inflammatory cytokines, by both malignant and non-malignant clone. Inflammation and cancer share a common pathway, i.e. NF-κB. Interestingly, miR-146a regulates TLR/NF-κB pathway through the inhibition of its targets, IRAK1 and TRAF…
PKP-005 Prognostic impact of novel gene polymorphisms in newly diagnosed acute myeloid leukaemia adults undergoing induction chemotherapy: Abstract P…
2015
Background Single nucleotide polymorphisms (SNPs) could lead to inter-individual differences in treatment outcomes. Purpose A recent study 1 reported several novel SNPs involved in cytarabine cytotoxicity using a whole-genome approach, which were associated with clinical outcomes in a paediatric AML population. However their association with effectiveness and toxicity remain undetermined in adults. Material and methods The six SNPs with clinical significance in the Gamazon study 1 (Table 1) were evaluated in 109 adult patients at initial diagnosis with AML using a mass spectrometry–based multiplex genotyping assay (Sequenom). All patients were treated with idarubicin plus cytarabine. Genoty…
Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study
2012
Item does not contain fulltext INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analys…
Common variants conferring risk of schizophrenia
2009
Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…
Parent of origin effects in attention/deficit hyperactivity disorder (ADHD): analysis of data from the international multicenter ADHD genetics (IMAGE…
2008
Contains fulltext : 71540.pdf (Publisher’s version ) (Closed access) There are conflicting reports suggesting that the parental origin of transmitted risk alleles may play a role in the etiology of attention deficit/hyperactivity disorder (ADHD). A recent report by Hawi and colleagues observed a generalized paternal over-transmission of alleles associated with ADHD. This was not replicated in more recent studies. Using data from a large multicenter study we examined the overall and gene-specific parent of origin effect in 554 independent SNPs across 47 genes. Transmission disequilibrium and explicit parent of origin test were performed using PLINK. Overall parent of origin effect was tested…