Search results for "ASSOCIATION"
showing 10 items of 1747 documents
Cytochrome P450 2E1 variable number tandem repeat polymorphisms and health risks: A genotype-phenotype study in cancers associated with drinking and/…
2012
Cytochrome P450 2E1 (CYP2E1) is one of the main enzymes involved in the oxidation of ethanol and in the transformation of a number of potentially dangerous compounds. It has various polymorphic sites, one of which is a variable number tandem repeat (VNTR) polymorphism previously described in the 5'-flanking region. The aim of this study was to investigate the genotype-phenotype association between CYP2E1 VNTR polymorphisms and risky health habits in healthy subjects and to analyze the associations between these polymorphisms with drinking- and/or smoking-related cancers. We analyzed 166 healthy subjects by genotyping for the CYP2E1 VNTR polymorphism associated with drinking and/or smoking h…
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
2012
To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) with ∼2000 candidate genes in 39 multiethnic population-based studies, case-control studies, and clinical trials totaling 17,418 cases and 70,298 controls. First, meta-analysis of 25 studies comprising 14,073 cases and 57,489 controls of European descent confirmed eight established T2D loci at genome-wide significance. In silico follow-up analysis of putative association signals found in independent genome-wide association studies (including 8,130 cases and 38,987 controls) performed by the DIAGRAM consortium id…
MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits
2015
Regulator of G-protein Signaling 2 (RGS2) is a key regulator of G-protein-coupled signaling pathways involved in fear and anxiety. Data from rodent models and genetic analysis of anxiety-related traits and disorders in humans suggest down-regulation of RGS2 expression to be a risk factor for anxiety. Here we investigated, whether genetic variation in microRNAs mediating posttranscriptional down-regulation of RGS2 may be a risk factor for anxiety as well. 75 microRNAs predicted to regulate RGS2 were identified by four bioinformatic algorithms and validated experimentally by luciferase reporter gene assays. Specificity was confirmed for six microRNAs (hsa-miR-1271-5p, hsa-miR-22-3p, hsa-miR-3…
Failure to find association between childhood abuse and cognition in first-episode psychosis patients
2012
AbstractThis study investigated the relationship between severe childhood abuse and cognitive functions in first-episode psychosis patients and geographically-matched controls. Reports of any abuse were associated with lower scores in the executive function domain in the control group. However, in contrast with our hypothesis, no relationships were found amongst cases.
Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility
2010
BACKGROUND: Variability of gene expression in human may link gene sequence variability and phenotypes; however, non-genetic variations, alone or in combination with genetics, may also influence expression traits and have a critical role in physiological and disease processes. METHODOLOGY/PRINCIPAL FINDINGS: To get better insight into the overall variability of gene expression, we assessed the transcriptome of circulating monocytes, a key cell involved in immunity-related diseases and atherosclerosis, in 1,490 unrelated individuals and investigated its association with >675,000 SNPs and 10 common cardiovascular risk factors. Out of 12,808 expressed genes, 2,745 expression quantitative trait …
Automatic numerical-spatial association in synaesthesia: An fMRI investigation
2016
A horizontal mental number line (MNL) is used to describe how quantities are represented across space. In humans, the neural correlates associated with such a representation are found in different areas of the posterior parietal cortex, especially, the intraparietal sulcus (IPS). In a phenomenon known as number-space synaesthesia, individuals visualise numbers in specific spatial locations. The experience of a MNL for number-space synaesthetes is explicit, idiosyncratic, and highly stable over time. It remains an open question whether the mechanisms underlying numerical-spatial association are shared by synaesthetes and nonsynaesthetes. We address the neural correlates of number-space assoc…
Breathe out and learn: Expiration-contingent stimulus presentation facilitates associative learning in trace eyeblink conditioning.
2019
Rhythmic variation in heart rate and respiratory pattern are coupled in a way that optimizes the level of oxygen in the blood stream of the lungs and the body as well as saves energy in pulmonary gas exchange. It has been suggested that the cardiac cycle and respiratory pattern are coupled to neural oscillations of the brain. Yet, studies on how this rhythmic coupling is related to behavior are scarce. There is some evidence that, for example, the phase of respiration affects memory retrieval and the electrophysiological oscillatory state of the limbic system. It is also known that the phase of the cardiac cycle and hippocampal electrophysiological oscillations alone affect learning. Here, …
Is an attention-based associative account of adjacent and nonadjacent dependency learning valid?
2014
Pacton and Perruchet (2008) reported that participants who were asked to process adjacent elements located within a sequence of digits learned adjacent dependencies but did not learn nonadjacent dependencies and conversely, participants who were asked to process nonadjacent digits learned nonadjacent dependencies but did not learn adjacent dependencies. In the present study, we showed that when participants were simply asked to read aloud the same sequences of digits, a task demand that did not require the intentional processing of specific elements as in standard statistical learning tasks, only adjacent dependencies were learned. The very same pattern was observed when digits were replace…
Questionning and reading goals: information seeking questions asked on scientific texts read under different task conditions
2013
Background: A number of studies report that few questions are asked in classrooms and that many of them are shallow questions. Aims: This study investigates the way in which reading goals determine questioning on scientific texts. Reading goals were manipulated through two different tasks: reading for understanding versus reading to solve a problem. Sample: A total of 183 university students. Methods: In the first and third questioning experiments the participants read two short texts. Students in one condition were instructed to understand the texts, while in the alternative condition they had to read texts to solve a problem. Students were instructed to write down any questions they might…