Search results for "Association."

The switch from proteasome to immunoproteasome is increased in circulating cells of patients with fast progressive immunoglobulin A nephropathy and a…

2021

  The proteasome to immunoproteasome (iPS) switch consists of β1, β2 and β5 subunit replacement by low molecular weight protein 2 (LMP2), LMP7 and multicatalytic endopeptidase-like complex-1 (MECL1) subunits, resulting in a more efficient peptide preparation for major histocompatibility complex 1 (MHC-I) presentation. It is activated by toll-like receptor (TLR) agonists and interferons and may also be influenced by genetic variation. In a previous study we found an iPS upregulation in peripheral cells of patients with immunoglobulin A nephropathy (IgAN). We aimed to investigate in 157 IgAN patients enrolled through the multinational Validation Study of the Oxford Classification of IgAN (VAL…

Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

2018

Diabetic kidney disease (DKD) is a heritable but poorly understood complication of diabetes. To identify genetic variants predisposing to DKD, we performed genome-wide association analyses in 19,406 individuals with type 1 diabetes (T1D) using a spectrum of DKD definitions basedon albuminuria and renal function. We identified 16 genome-wide significant loci. The variant with the strongest association (rs55703767) is a common missense mutation in the collagen type IV alpha 3 chain(COL4A3)gene, which encodes a major structural component of the glomerular basement membrane (GBM) implicated in heritable nephropathies. The rs55703767 minor allele (Asp326Tyr) is protective against several definit…

Do vegetarians feel bad? Examining the association between eating vegetarian and subjective well-being in two representative samples

2020

Abstract Research on the relationship between vegetarianism and subjective well-being (SWB) has produced inconsistent results, which may partly be due to small sample sizes and divergent operationalizations of well-being. For these reasons, the present study aimed to thoroughly examine this association in two large representative samples from Germany (Study 1: N = 12,905, including 665 vegetarians) and Australia (Study 2: N = 15,532, including 383 vegetarians) using a consensual conceptualization of SWB (composed of an affective component, i.e., positive and negative affect, and a cognitive component, i.e., life satisfaction). Results of t-tests showed that vegetarians reported slightly hig…

Cortical Recruitment Determines Learning Dynamics and Strategy

2018

AbstractSalience is a broad and widely used concept in neuroscience whose neuronal correlates, however, remain elusive. In behavioral conditioning, salience is used to explain various effects, such as stimulus overshadowing, and refers to how fast and strongly a stimulus can be associated with a conditioned event. Here, we show that sounds of diverse quality, but equal intensity and perceptual detectability, can recruit different levels of population activity in mouse auditory cortex. When using these sounds as cues in a Go/NoGo discrimination task, the degree of cortical recruitment matches the salience parameter of a reinforcement learning model used to analyze learning speed. We test an …

Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia

2018

AbstractDevelopmental dyslexia (DD) is one of the most prevalent learning disorders among children and is characterized by deficits in different cognitive skills, including reading, spelling, short term memory and others. To help unravel the genetic basis of these skills, we conducted a Genome Wide Association Study (GWAS), including nine cohorts of reading-impaired and typically developing children of European ancestry, recruited across different countries (N=2,562-3,468).We observed a genome-wide significant effect (p<1×10−8) on rapid automatized naming of letters (RANlet) for variants on 18q12.2 withinMIR924HG (micro-RNA 924 host gene;p= 4.73×10−9), and a suggestive association on 8q1…

Corrigendum to: “Genome-wide association study of non-alcoholic fatty liver and steatohepatitis in a histologically characterised cohort”☆ (J Hepatol…

2021

Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

2018

AbstractLiability to alcohol dependence (AD) is heritable, but little is known about its complex polygenic architecture or its genetic relationship with other disorders. To discover loci associated with AD and characterize the relationship between AD and other psychiatric and behavioral outcomes, we carried out the largest GWAS to date of DSM - IV diagnosed AD. Genome - wide data on 14,904 individuals with AD and 37,944 controls from 28 case / control and family - based studies were meta - analyzed, stratified by genetic ancestry (European, N = 46,568; African; N = 6,280). Independent, genome - wide significant effects of different ADH1B variants were identified in European (rs1229984; p = …

Exploring the profiles of children with autism spectrum disorder: association with family factors.

2019

This study aimed to identify different profiles of children with autism spectrum disorder (ASD) without intellectual disability (ID) and maternal factors characteristic of these profiles. Participants were 89 children between 7 and 11 years old and their mothers, distributed in two groups, 52 children with ASD and 37 with typical development (TD). Based on the children’s adaptive, behavioral, and pragmatic manifestations, three clusters were obtained in the ASD group. Children with the most serious difficulties in all the domains assessed were assigned to Cluster 1, whereas the children in Cluster 3 were characterized by relatively minor problems. Cluster 2 comprised children with moderate …

Simplification Of Painting Images For Tactile Perception By Visually Impaired Persons

2018

The access to artworks by visually impaired people requires a simplified tactile representation of paintings. This paper presents the difficulties of direct transcription of artworks and the test results of simplification of the paintings done by Australian Aborigines which don't have purely visual elements such as shadows or perspective. The implemented methodology is bottom-up: it starts with tactile representation of basic elements relevant to the understanding of the whole painting, then their association into more complex concepts. The context of associations is explained through audio-description. The results of the tests with visually impaired persons are analyzed and explained.

Sexual narcissism and its association with sexual and well-being outcomes

2020

Abstract Theories on narcissism are traditionally closely related to sexuality. Most research on the association between narcissism and sexual behavior, however, has focused on harmful/maladaptive outcomes. The aim of the present two studies was to examine the possible health-promoting influence of both global and sexual narcissism on sexual function and genital self-image. In Study 1, sexual narcissism was positively associated with sexual functioning in both women and men (N = 505, online-recruited German participants). In the women's sample, sexual narcissism was related to a positive genital self-image. The facet sexual skill was identified as the most important predictor for sexual fun…