Search results for "ASSOCIATION"
showing 10 items of 1747 documents
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…
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
2011
1. The CARDIoGRAM Consortium. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nature Genetics. 2011;43:333–338. ### Study Hypothesis Recently, genome-wide association studies (GWAS) have identified several common variants that are associated with risk of coronary artery disease (CAD) and myocardial infarction (MI). The authors state that the current loci discovered in CAD and MI GWAS explain only a small fraction of the heritability of this complex disease. The authors hypothesized that a larger study would provide more power to discover common variants with modest effect sizes. Therefore, they formed the Coronary ARtery DIsease Genome-wid…
Neural dynamics of learning sound-action associations.
2008
A motor component is pre-requisite to any communicative act as one must inherently move to communicate. To learn to make a communicative act, the brain must be able to dynamically associate arbitrary percepts to the neural substrate underlying the pre-requisite motor activity. We aimed to investigate whether brain regions involved in complex gestures (ventral pre-motor cortex, Brodmann Area 44) were involved in mediating association between novel abstract auditory stimuli and novel gestural movements. In a functional resonance imaging (fMRI) study we asked participants to learn associations between previously unrelated novel sounds and meaningless gestures inside the scanner. We use functio…
Association of attentional network function with exon 5 variations of the CHRNA4 gene
2007
Mutational analyses in xenopus oocyte and mice models indicate that the positive effect of nicotine on attention may be modulated by genetic variations within exon 5 of the alpha4 subunit of the nicotinergic acetylcholine receptor gene CHRNA4. The potential relevance of exon 5 is further emphasized by two recent family-based association studies of nicotine dependence because subgroups of nicotine-dependent subjects are thought to 'self-medicate' attentional deficits with nicotine. We investigated a synonymous single nucleotide polymorphisms (SNP): rs1044396, which has recently been associated with nicotine-dependence, plus two adjacent synonymous SNPs rs1044394 and rs1044393 in exon 5 of n …
Association Study of Nonsynonymous Single Nucleotide Polymorphisms in Schizophrenia
2010
Genome-wide association studies using several hundred thousand anonymous markers present limited statistical power. Alternatively, association studies restricted to common nonsynonymous single nucleotide polymorphisms (nsSNPs) have the advantage of strongly reducing the multiple testing problem, while increasing the probability of testing functional single nucleotide polymorphisms (SNPs).We performed a case-control association study of common nsSNPs in Galician (northwest Spain) samples using the Affymetrix GeneChip Human 20k cSNP Kit, followed by a replication study of the more promising results. After quality control procedures, the discovery sample consisted of 5100 nsSNPs at minor allel…
Association of functional DBH genetic variants with alcohol dependence risk and related depression and suicide attempt phenotypes: Results from a lar…
2012
Abstract Objective Dopamine-beta-hydroxylase (DBH) metabolizes the conversion of dopamine to noradrenaline. DBH, located on chromosome 9q34.2 has variants with potential functional consequences which may be related to alterations of neurotransmitter function and several psychiatric phenotypes, including alcohol dependence (AD), depression (MD) and suicidal behavior (SA). The aim of this association study in a large multicenter sample of alcohol-dependent individuals and controls is to investigate the role of DBH SNPs and haplotypes in AD risk and associated phenotypes (AD with MD or SA). Method 1606 inpatient subjects with DSM-IV AD from four addiction treatment centers and 1866 control sub…
Desires and intentions for fatherhood: A comparison of childless gay and heterosexual men in Germany.
2018
The present study explores the motivation for fatherhood in a sample of childless German gay and heterosexual men aged 18 to 40 years (N = 628 + 638). Referring to the theory of planned behavior (TPB), three potential predictors were considered: the individual's attitude toward having children, perceived attitudes of significant others toward fatherhood, and anticipated parental self-efficacy. Regarding fathering motivation, the general desire to become a father was differentiated from the more concrete fathering intention. Level- and structure-oriented analyses were combined in an innovative way. Consistent with previous research, gay participants reported weaker fathering desires and inte…
Child-caregivers’ body weight and habitual physical activity status is associated with overweight in kindergartners
2014
Background The aim of this study was to examine whether child-caregivers’, both parents and kindergarten teachers, health parameters (age, weight status, habitual physical activity score) are significantly associated with the risk of overweight in young children. Methods We assessed the individual body mass index standard deviation score in a regional cross-sectional health study and matched a representative sample of 434 kindergartners aged 3 to 6-years with their caregivers’ weight and habitual physical activity status. Furthermore, we identified factors associated with the general ability of child-caregivers to identify overweight in children, and the awareness to classify a child within…
Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation
2020
Abstract Background Congenital pelvic skeletal anomalies (CPSA) may appear as isolated defects or in association with other anomalies like congenital malformations of the digestive system (CMDS). Minor CPSA in non-syndromic patients are often overlooked. We aimed to assess the frequency of CPSA in newborns with CMDS to review the diagnostic approaches. Study design A retrospective review of medical records of 201 newborns who underwent X-rays for different neonatal indications was conducted. In 122 patients CMDS were diagnosed and classified according to the ICD-10 classification; 79 non-CMDS patients acted as controls. Pelvic skeletal segments were examined by X-rays. Results Patients with…
Examining the Dynamics of the Implicit and the Explicit Self-Concept in Social Anxiety: Changes in the Implicit Association Test–Anxiety and the Soci…
2008
In this study, we analyzed changes in the strength of self-anxiety associations—as measured by the Implicit Association Test–Anxiety (IAT–Anxiety; Egloff & Schmukle, 2002) and the Social Phobia Anxiety Inventory (SPAI; Turner, Beidel, Dancu, & Stanley, 1989)—following treatment of social anxiety. We assessed socially anxious participants (N = 24) prior to and following a group-based treatment; and we assessed healthy controls (N = 24) at matched time points. Results showed (a) higher implicit and explicit anxiety in socially anxious participants (as compared to controls) prior to treatment and (b) reductions in IAT–Anxiety and SPAI scores of socially anxious participants following treatment…