Search results for " trait"
showing 10 items of 764 documents
Dynamics of the General Factor of Personality in Response to a Single Dose of Caffeine
2011
General Factor of Personality (GFP) research is an emergent field in personality research. This paper uses a theoretical mathematical model to predict the short-term effects of a dose of a stimulant drug on GFP and reports the results of an experiment showing how caffeine achieves this. This study considers the General Factor of Personality Questionnaire (GFPQ) a good psychometric approach to assess GFP. The GFP dynamic mechanism of change is based on the Unique Trait Personality Theory (UTPT). This theory proposes the existence of GFP which occupies the apex of the hierarchy of personality, and extends from an impulsiveness-and-aggressiveness pole (approach tendency) to an anxiety-andintro…
Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes
2012
One mechanism by which disease-associated DNA variation can alter disease risk is altering gene expression. However, linkage disequilibrium (LD) between variants, mostly single-nucleotide polymorphisms (SNPs), means it is not sufficient to show that a particular variant associates with both disease and expression, as there could be two distinct causal variants in LD. Here, we describe a formal statistical test of colocalization and apply it to type 1 diabetes (T1D)-associated regions identified mostly through genome-wide association studies and expression quantitative trait loci (eQTLs) discovered in a recently determined large monocyte expression data set from the Gutenberg Health Study (1…
IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes
2018
GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that are perturbed by these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and identify 23,650 cis-eQTL. We show that these are determined by ∼9720 regulatory modules, of which ∼3000 operate in multiple tissues and ∼970 on multiple genes. We identify regulatory modules that drive the disease association for 63 of the 200 risk loci, and show that these are enriched in multigenic modules. Based on these analyses, we resequence 45 of the corresponding 100 ca…
Autosomal dominant and sporadic radio-ulnar synostosis.
1997
We report on seven cases of congenital radio-ulnar synostosis (RUS). Five were found in the same family and two were sporadic. In six the synostosis was bilateral and consistently involved the proximal end of the radius and ulna. In the familial cases the anomaly was inherited as an autosomal dominant trait and was associated with a Dubois sign and relative shortness of metacarpals number 4 and 5 in two patients, and of number 2 in another patient, and of all phalanges of the 5th fingers. These observations suggest involvement of an ulnar developmental field. RUS does not seem to be rare in the Sicilian population.
A polydiagnostic scale for dimensional classification of endogenous depression. Derivation and validation.
1986
Several operational diagnoses (OPD) for endogenous depression have been proposed. However--though aiming at similar clinical concepts--the amount of association and agreement between different OPD is rather low. In this study the relationship between eight OPD (Research Diagnostic Criteria, DSM-III, Michigan Discrimination Index, Newcastle Scale I, Newcastle Scale II, Taylor-Abrams Criteria, Vienna Research Criteria, Hamilton Endogenomorphy Index) was assessed by applying latent trait analyses to the classificatory data of these eight OPD which were rated simultaneously in a sample of 173 depressive inpatients. According to these analyses six OPD (RDC, DSM-III, NCS-I, NCS-II, TAC and VRC) a…
Subtyping treatment-seeking gaming disorder patients
2021
Abstract Background and aims Gaming Disorder (GD) is characterized by a pattern of persistent and uncontrolled gaming behavior that causes a marked impairment in important areas of functioning. The evolution of the worldwide incidence of this disorder warrants further studies focused on examining the existence of different subtypes within clinical samples, in order to tailor treatment. This study explored the existence of different profiles of patients seeking treatment for GD through a data-driven approach. Methods The sample included n = 107 patients receiving treatment for GD (92% men and 8% women) ranging between 14 and 60 years old (mean age = 24.1, SD = 10). A two-step clustering anal…
Examining facial emotion recognition as an intermediate phenotype for psychosis: Findings from the EUGEI study
2022
The EUGEI project was supported by the European Community’s Seventh Framework Program under grant agreement No. HEALTH-F2- 2009-241909 (Project EU-GEI). Dr. Arango was supported by the Spanish Ministry of Science and Innovation; Instituto de Salud Carlos III (SAM16-PE07CP1, PI16/02012, PI19/024); CIBERSAM (...)
Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach
2015
Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. We aimed to apply an extreme sampling method to enhance the statistical power to identify novel genetic risk variants for CHD in individuals with FH. We selected cases and controls with an extreme contrast in CHD risk from 17 000 FH patients from the Netherlands, whose functional LDLR mutation was unequivocally established. The genome-wide association (GWA) study was performed on 249 very young FH cases with CHD and 217 old FH controls without CHD (above 65 years for males and 70 years of age for females) using the Ill…
Association of Type D personality with cognitive functioning in individuals with and without cardiovascular disease: The Gutenberg health study
2016
ObjectiveDistressed (‘Type D’) personality is associated with adverse health outcomes in patients with cardiovascular disease (CVD). While personality traits from the Five-Factor Model are related to cognitive functioning, neither Type D personality nor its underlying traits negative affectivity (NA) and social inhibition (SI) have been investigated regarding cognition. We therefore compared the predictive value of Type D classification and its subcomponents NA and SI on planning performance in individuals with and without CVD.MethodsType D personality traits (DS14) were determined in a population-based sample of 4026 participants (including 549 with CVD) aged 40–80 years from the Gutenberg…
Influence of sex and genetic variability on expression of X-linked genes in human monocytes
2011
Abstract In humans, the fraction of X-linked genes with higher expression in females has been estimated to be 5% from microarray studies, a proportion lower than the 25% of genes thought to escape X inactivation. We analyzed 715 X-linked transcripts in circulating monocytes from 1,467 subjects and found an excess of female-biased transcripts on the X compared to autosomes (9.4% vs 5.5%, p −5 ). Among the genes not previously known to escape inactivation, the most significant one was EFHC2 whose 20% of variability was explained by sex. We also investigated cis expression quantitative trait loci (eQTLs) by analyzing 15,703 X-linked SNPs. The frequency and magnitude of X-linked cis eQTLs were…