Search results for "Association."
showing 10 items of 1723 documents
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…
Testing an emotion regulation model of physical activity in adolescents with anorexia nervosa: A pilot ecological momentary assessment.
2019
Objective Adolescents with anorexia nervosa (AN) often show increased levels of exercise and physical activity. Psychological models suggest that physical activity in AN might attenuate momentary negative affect. However, this has not been directly tested in adolescents with AN, and it remains unclear whether this is a distinct mechanism of physical activity in AN compared with healthy controls (HCs). Method In a 1-day ecological momentary assessment, 32 adolescent inpatients with AN and 30 HCs responded to hourly questions on momentary affect while wearing an actigraph to objectively assess physical activity. Results Linear mixed models identified that adolescents with AN experienced more …
Chronometric evidence for memory retrieval in causal conditional reasoning: The case of the association strength effect
2005
According to many models of conditional reasoning, correct responses to the uncertain forms affirmation of consequent (AC) and denial of antecedent (DA) rely on the retrieval of an alternative antecedent from semantic memory. The main prediction issuing from this hypothesis of online retrieval is that the associative strength of the relevant information in long-term memory affects the latency of its retrieval and then of the correct response of uncertainty to AC and DA. This prediction was tested in 64 adults who performed a syllogism evaluation task with familiar causal conditional premises. As predicted, correct responses of uncertainty to AC and DA were not only more frequent but also fa…
Perceived Racial/Ethnic Discrimination and Psychological Outcomes Among Adult International Adoptees in Finland: Moderating Effects of Social Support…
2015
Quantitative literature on international adoptees and racial/ethnic discrimination is lacking despite results in qualitative studies from Europe and the United States that have consistently indicated how racism constantly complicates adoptees' everyday lives. To advance the literature, the present study examined the prevalence of perceived racial/ethnic discrimination among 213 adult international adoptees in Finland (59.6% women and 40.4% men, mean age 24.1 years), and the association between perceived racial/ethnic discrimination and psychological well-being indicators, including psychological distress and sleeping problems. In addition, we examined social support and sense of coherence a…