Search results for "Association"
showing 10 items of 1747 documents
Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18
2012
Objective To study genotype–phenotype correlation of ring chromosome 18 [r(18)] in 9 patients with 46,XN karyotype. Study design In 9 patients with a de novo 46,XN,r(18) karyotype (7 females, 2 males), we performed high-resolution single-nucleotide polymorphism array analysis (Illumina Human Omni1-QuadV1 array in 6 patients, Affymetrix 6.0 array in 3 patients), investigation of parental origin, and genotype–phenotype correlation. Results No breakpoint was recurrent. Single metaphases with loss of the ring, double rings, or secondarily rearranged rings were found in some cases, but true mosaicism was present in none of these cases. In 3 patients, additional duplications in 18p (of 1.4 Mb, 2 …
Implicit versus explicit attitude to doping: which better predicts athletes’ vigilance towards unintentional doping?
2018
Abstract Objectives This preliminary study examined whether implicit doping attitude, explicit doping attitude, or both, predicted athletes’ vigilance towards unintentional doping. Design A cross-sectional correlational design. Methods Australian athletes (N = 143; Mage = 18.13, SD = 4.63) completed measures of implicit doping attitude (brief single-category implicit association test), explicit doping attitude (Performance Enhancement Attitude Scale), avoidance of unintentional doping (Self-Reported Treatment Adherence Scale), and behavioural vigilance task of unintentional doping (reading the ingredients of an unfamiliar food product). Results Positive implicit doping attitude and explicit…
The Influence of University Students’ Stress Mindsets on Health and Performance Outcomes
2018
Background Emerging evidence indicates that holding particular stress mindsets has favorable implications for peoples’ health and performance under stress. Purpose The aim of the current study was to examine the processes by which implicit and explicit stress mindsets relate to health- and performance-related outcomes. Specifically, we propose a stress beliefs model in which somatic responses to stress and coping behaviors mediate the effect of stress mindsets on outcomes. Methods Undergraduate university students (N = 218, n = 144 females) aged 17– 25 years completed measures of stress mindset, physical and psychological wellbeing, perceived stress, perceived somatic responses to stress…
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
2015
International audience; 6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including…
A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus
2014
Contains fulltext : 137763.pdf (Publisher’s version ) (Open Access) Recent genome-wide association studies (GWAS) of Hodgkin lymphoma (HL) have identified associations with genetic variation at both HLA and non-HLA loci; however, much of heritable HL susceptibility remains unexplained. Here we perform a meta-analysis of three HL GWAS totaling 1,816 cases and 7,877 controls followed by replication in an independent set of 1,281 cases and 3,218 controls to find novel risk loci. We identify a novel variant at 19p13.3 associated with HL (rs1860661; odds ratio (OR)=0.81, 95% confidence interval (95% CI)=0.76-0.86, Pcombined=3.5 x 10(-10)), located in intron 2 of TCF3 (also known as E2A), a regul…
Sex differences in conditioned stimulus discrimination during context-dependent fear learning and its retrieval in humans: the role of biological sex…
2015
BACKGROUND: Anxiety disorders are more prevalent in women than in men. Despite this sexual dimorphism most experimental studies are conducted in male participants and studies focusing on sex differences are sparse. In addition the role of hormonal contraceptives and menstrual cycle phase in fear conditioning and extinction processes remain largely unknown. METHODS: We investigated sex differences in context-dependent fear acquisition and extinction (day 1) and their retrieval/expression (day 2). Skin conductance responses (SCRs) fear and unconditioned stimulus expectancy ratings were obtained. RESULTS: We included 377 individuals (261 women) in our study. Robust sex differences were observe…
Preferences of Physical Education Profiles Among Polish Adolescents
2020
The purpose of this study was to examine the association of preferred profiles of Physical Education (PE) classes with gender and school level among Polish adolescents. In the cross-sectional survey study, participated 1,340 Polish students (including 50% of girls), attending middle and high schools, aged between 13–19 years old. The participants selected one of four preferred profiles of PE classes. The majority (n = 845, 63%) of students participated in PE for "fun – pleasure – entertainment", whereas only one third of students (n = 419, 31%) preferred "exercise – sweat – fitness" as a profile of PE classes. The preference of "fun – pleasure – entertainment" decreased about 41% for boys a…
PTK2 rs7460 and rs7843014 polymorphisms and exceptional longevity: a functional replication study
2014
Focal adhesion is critical for cell survival. The focal adhesion kinase (FAK, or PTK2) is an important component of the human interactome and thus is a potential longevity-related protein. Here we studied the association between two PTK2 gene single-nucleotide polymorphisms (SNPs) (rs7843014, rs7460) and exceptional longevity (EL). In addition to gaining insight into their functionality by determining luciferase gene reporter activity, we studied the genotype/allele frequency of these two SNPs among three different cohorts: (1) Spanish centenarians (n=175, 100–111 years, 144 women) and healthy controls (n=355, 20–50 years, 284 women); (2) Italian centenarians (n=79, 100–104 years, 40 women)…
Alexithymia and Adult Attachment: Investigating the Mediating Role of Fear of Intimacy and Negative Mood Regulation Expectancies
2021
Literature suggests an association between alexithymia and insecure adult attachment, but the mediation factors involved in this relationship are under-investigated. The study was carried out to test the possible mediation roles of the fear of intimacy and negative mood regulation expectancies in explaining this relationship. A convenience sample of 258 Polish adults (mean age: 30; 45% male), completed self-reporting measures related to adult attachment (RAAS), alexithymia (TAS-20), fear of intimacy (FIS) and negative mood regulation expectancies (NMRE). The results showed that alexithymia directly and indirectly predicts insecure adult attachment. Alexithymia positively predicts the fear …
Altered effective connectivity in drug free schizophrenic patients
2003
The present fMRI study aimed to investigate effective connectivity within a cortical-subcortical-cerebellar information processing network in drug free schizophrenic patients while performing a 2-back working memory task. The finding of enhanced thalamo-cortical and cortico-cortical intrahemispheric connectivity could be interpreted as a compensatory increase of neuronal connection strength consistent with a model of cortical inefficiency in schizophrenic patients. Additionally, the result could be integrated into a model of deficient thalamo-cortical filter functions. Conversely, lower interhemispheric connectivity of the frontal and parietal association cortex appears to be the functional…