Search results for "Restriction"
showing 10 items of 527 documents
Norepinephrine transporter gene polymorphism is not associated with susceptibility to alcohol dependence
2002
Abnormalities in monoamine neurotransmission have been implicated in the pathogenesis of alcoholism, mood disorders and schizophrenia. Murine norepinephrine transporter gene (NET) has been mapped to a region on chromosome 8 where a quantitative trait locus for ethanol sensitivity. Therefore we tested whether norepinephrine transporter (NET) gene variants confer susceptibility to either alcohol dependence or severe alcohol withdrawal symptoms. There is a highly polymorphic silent G1287A mutation in the NET gene. In our study 157 alcoholics and 185 healthy unrelated matched control subjects were analyzed for a silent G1287A mutation. No significant differences in allele and genotype distribut…
Evidence for the importance of the human dopamine transporter gene for withdrawal symptomatology of alcoholics in a German population
2002
Two new polymorphisms in the 3' untranslated region (3'UTR) of the dopamine transporter (DAT1) gene, adjacent to the known variable number of tandem repeats (VNTR) polymorphism, have been investigated in the present population-based association study including 351 alcoholics and 336 controls. The DraI restriction site was not polymorphic in our population. The G2319A polymorphism was not significantly different with respect to genotype or allele distribution between alcoholics and controls. Subsequently, in individuals with VNTR homozygosity for the ten repeat allele, we found a higher prevalence of A/A homozygosity in patients with seizure history (P = 0.001, odds ratio (OR) = 7.913), with…
Polymorphisms in the N-methyl-D-aspartate receptor 1 and 2B subunits are associated with alcoholism-related traits.
2003
Abstract Background This study examined the hypothesis that allelic variants of the ionotropic glutamatergic N-methyl-D-aspartate receptor (NMDAR) are associated with vulnerability to alcoholism and some related traits. Methods We investigated the silent G2108A and C2664T polymorphisms of the NMDAR1 and the NMDAR2B genes, respectively. The case control study included 367 alcoholic and 335 control subjects of German origin. The family-based study comprised 81 Polish alcoholic patients and their parents using the transmission disequilibrium test. Results The genotype frequencies of the NMDAR1 polymorphism differed significantly between control and alcoholic subjects. This difference was also …
Multiple pregnancies and air pollution in moderately polluted cities: Is there an association between air pollution and fetal growth?
2018
Background: Multiple pregnancies (where more than one fetus develops simultaneously in the womb) are systematically excluded from studies of the impact of air pollution on pregnancy outcomes. This study aims to analyze, in a population of multiple pregnancies, the relationship between fetal growth restriction (FGR), small for gestational age (SGA) and exposure to air pollution in moderately polluted cities. Methods: All women with multiple pregnancies living in the city of Besançon or in the urban area of Dijon and who delivered at a university hospital between 2005 and 2009 were included. FGR and SGA were obtained from medical records. Outdoor residential nitrogen dioxide (NO2) exposure wa…
Effects of cumulative sleep restriction on self-perceptions while multitasking
2012
Summary This study addressed a rarely studied question of self-perceptions of performance and overall functional state during cumulative sleep restriction and the ensuing recovery period. Twenty healthy male volunteers, aged 19–29 years, were divided into a sleep restriction group (n = 13) and a control group (n = 7). On the first 2 nights, the sleep restriction group had an 8-h sleep opportunity that was restricted to 4 h for the next 5 nights, and then restored to 8 h for the last 2 nights. The control group had an 8-h sleep opportunity each night. Each day participants accomplished 50-min multitask sessions and gave self-ratings in their connection. Similar to our previous findings on mu…
Blood Flow Restriction Alters Motor Unit Behavior During Resistance Exercise.
2019
AbstractWe aimed to determine whether blood flow restriction (BFR) alters the characteristics of individual motor units during low-intensity (LI) exercise. Eight men (26.0±3.8 yrs) performed 5 sets of 15 knee extensions at 20% of one-repetition maximum (with and without BFR). Maximal isometric voluntary contractions (MVC) were performed before and after exercise to quantify force decrement. Submaximal isometric voluntary contractions were additionally performed for 18 s, matching trapezoidal target-force trajectories at 40% pre-MVC. EMG activity was recorded from the vastus lateralis muscle. Then, signals were decomposed to extract motor unit recruitment threshold, firing rates and action p…
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis
2007
Summary Objectives Iodide organification defect (IOD) is characterized by a reduced ability of the thyroid gland to retain iodide and results in hypothyroidism. Mutations in the thyroid peroxidase (TPO) gene are a frequent cause of IOD. While TPO mutations have been identified in various populations, none have been reported in Israeli patients with IOD. The objectives of this study were to characterize the molecular basis of IOD in an Israeli Arab-Muslim population and to analyse the clinical, neurological and imaging data of patients with TPO mutations followed for up to 29 years. Patients Twenty-two patients from six core families with congenital hypothyroidism (CH) and IOD living in th…
IL 10.G microsatellites mark promoter haplotypes associated with protection against the development of reactive arthritis in Finnish patients.
2001
Objective To investigate the association of microsatellites and single-nucleotide promoter polymorphisms (SNPs) in the gene for the cytokine interleukin-10 (IL-10) with susceptibility to and outcome of reactive arthritis (ReA). Methods From genomic DNA, IL-10 microsatellites G and R and IL-10 promoter polymorphisms at positions −1087 and −524 were typed by polymerase chain reaction, automated fragment length analysis, and restriction fragment digestion in 85 Finnish patients with ReA and 62 HLA–B27–positive Finnish controls. ReA patients had been followed up for 20 years. Genotypes and haplotypes of IL-10 were correlated with distinct features of the disease course, such as triggering agent…
Validating a Rapid Method for Detecting Common Polymorphisms in the APOA5 Gene by Melting Curve Analysis Using LightTyper
2005
The recently identified apolipoprotein A-V gene (APOA5) has been shown to play an important role in hypertriglyceridemia (1). Genetic variation in APOA5 has been consistently associated with plasma triglyceride concentrations in several studies (2)(3)(4). Moreover, some studies have demonstrated additional associations with lipoprotein subclasses, remnant-like particles, and cardiovascular disease risk (4)(5)(6). Several single-nucleotide polymorphisms (SNPs) in the human APOA5 gene have been detected with differing frequencies depending on the population analyzed (7)(8), and Klos et al.(7) have also suggested context-dependent associations in different populations. Overall, 5 common SNPs, …
Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene
1995
We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 co…