Search results for "HAP"
showing 10 items of 2767 documents
DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population
2005
Introduction: Recent data have suggested that specific haplotypic variants of the DLG5 gene on chromosome 10q23 may be associated with susceptibility to inflammatory bowel disease (IBD) in Germany. Haplotype D, notably characterised by the presence of a G→A substitution at nucleotide 113, was associated with susceptibility to Crohn’s disease (CD) whereas an extended haplotype A conferred protection. Aims: Association of DLG5 haplotypic variants with disease susceptibility, genotype-phenotype relationships, and epistasis with CARD15 was investigated in the Scottish population. Patients and methods: A total of 374 CD, 305 ulcerative colitis (UC), and 294 healthy controls (HC) were studied. Ge…
No association of alcohol dependence with HOMER 1 and 2 genetic variants.
2010
Several lines of evidence indicate that alterations of the central cortico-accumbens glutamate pathway are involved in the development and maintenance of alcohol- and substance-use disorders. The HOMER protein family is encoded by 3 genes HOMER (1–3) which are components of the excitatory postsynaptic density complex and function to modulate synaptic activity by the regulation of glutamate signaling. HOMER 1 and 2 have been reported to contribute to chronic alcohol-induced long-term neurochemical changes in the endogenous reward system. Data from animal models suggest a potential role of the Homer protein family in the development of alcohol and substance use. The aim of this study is to as…
Genome-wide association data provide further support for an association between 5-HTTLPR and major depressive disorder.
2013
Abstract Background Dysfunctions of serotonergic neurotransmission are supposed to be involved in the pathogenesis of psychiatric disorders such as major depressive disorder (MDD). The concentration of serotonin (5-hydroxytryptamine, 5-HT) in the synaptic cleft is essentially regulated by the 5-HT transporter (5-HTT). A length polymorphism repeat in the 5-HTT promoter region, termed 5-HTTLPR, has been commonly investigated for an association with psychiatric disorders. Methods Genotyping of the 5-HTTLPR is time-consuming and technically challenging. Recently, a two-SNP haplotype was identified that tags the 5-HTTLPR at r 2 =0.775. This allows extraction of 5-HTTLPR genotype information from…
Oxidative stress markers at birth: Analyses of a neonatal population
2015
In order to further understand neonatal stress and, thus, control it efficaciously, there is a need for more information on the manifestations of stress at the molecular level in the newborn, with particular regard to oxidants, and anti-oxidant and anti-stress mechanisms, including mitochondrial heat shock protein-chaperones such as Hsp60. We investigated patterns of anti-oxidants, biomarkers of oxidative stress, and Hsp60 levels in sera from newborns and found significant associations between glutathione (GSH) levels and gestational age, delivery modality, and lipid hydroperoxydes (LOOH) level. LOOH levels and spontaneous (vaginal) delivery were independently associated with increased GSH …
Does successful attainment of developmental tasks lead to happiness and success in later developmental tasks? A test of Havighurst's (1948) theses.
2006
This study tested Havighurst's (1948) contention that successful attainment of age-specific developmental tasks leads to happiness and success in achieving subsequent tasks. A longitudinal study on 146 participants was carried out to investigate the links between developmental progression in adolescence and young adulthood and happiness, which was assessed by two indices: high self-esteem and low symptomatology. The importance individuals place on achieving normative developmental tasks and current developmental status was assessed six times during adolescence and young adulthood, self-esteem and symptomatology were assessed five times. Results revealed a shift in the time frames for accomp…
Has life satisfaction in Norway increased over a 20-year period? Exploring age and gender differences in a prospective longitudinal study, HUNT.
2017
Aim: The aim of the present study was to investigate the change in overall life satisfaction for different age groups and between genders over a 20-year period. Methods: Data from 1984 to 2008 were extracted from a large prospective longitudinal health study of Nord-Trøndelag (HUNT), Norway. The study included more than 176,000 participants ranging from 20 to 70+ years of age. Data were analysed using logistic regression and adjusted for gender. Results: The analyses revealed an increase in life satisfaction for all age groups from 1984–1986 (HUNT 1) to 1995–1997 (HUNT 2), with the highest levels being reached at 2006–2008 (HUNT 3). For all age groups, the data showed an increase of about …
HLA-B8,DR3 haplotype affects lymphocyte blood levels
1997
The number of lymphocytes in the blood is constant, pointing to an effective control of circulating lymphocyte values. The mechanisms of this regulation are uncertain, although it is likely that the number of blood lymphocytes is conditioned by hormones, homing factors and cytokines whose production is at least partly restrained by genetic factors. Particularly genetic factors linked to major histocompatibility complex (MHC) appear to be involved. In human beings a decreased number of blood lymphocytes has been described in healthy subjects carrying the Human Leucocyte Antigens (HLA) haplotype HLA-B8,DR3. In the present study, to inquire into the mechanisms of this lymphocyte decreased numb…
Haptic information differentially interferes with visual analysis in reaching-grasping control and in perceptual processes.
1998
We used an interference paradigm in order to study integration between haptic and visual information in motor control and in perceptual analysis. Subjects either reached and grasped a visually presented sphere or matched its size with their left hand while manipulating with their right hand another sphere whose size could be smaller or greater. In four experiments haptic analysis of the manipulated sphere could be either automatically incorporated with or explicitly dissociated from visual analysis. In a fifth experiment reaching-grasping and matching were executed with the right hand, whereas manipulation was executed with the left hand. Manipulation with the right hand influenced finger s…
The link between mitochondrial DNA hypervariable segment I heteroplasmy and ageing among genetically unrelated Latvians
2011
International audience; Various studies have demonstrated that mitochondrial DNA (mtDNA) heteroplasmy tends to increase with age and that the observed frequency of heteroplasmy among populations mostly depends on the way it is measured. Therefore, we investigated age-related association on the presence of mtDNA heteroplasmy within the hypervariable segment 1 (HVS-I) in a selected study group. The study group consisted of 300 maternally unrelated Latvians ranging in age from 18 to over 90years. To determine the optimal method for mtDNA heteroplasmy detection, three approaches were used: (i) SURVEYORTM Mutation Detection Kit, (ii) sequencing and (iii) denaturing gradient-gel electrophoresis (…
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
2019
The expanding use of exome sequencing (ES) in diagnosis generates a huge amount of data, including untargeted mitochondrial DNA (mtDNA) sequences. We developed a strategy to deeply study ES data, focusing on the mtDNA genome on a large unspecific cohort to increase diagnostic yield. A targeted bioinformatics pipeline assembled mitochondrial genome from ES data to detect pathogenic mtDNA variants in parallel with the "in-house" nuclear exome pipeline. mtDNA data coming from off-target sequences (indirect sequencing) were extracted from the BAM files in 928 individuals with developmental and/or neurological anomalies. The mtDNA variants were filtered out based on database information, cohort …