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1.
Environ Sci Technol ; 57(30): 11067-11074, 2023 08 01.
Article in English | MEDLINE | ID: mdl-37469326

ABSTRACT

The assumed dominance of chloride (Cl-) in terrestrial ecosystems is challenged by observations of extensive formation of organically bound Cl (Clorg), resulting in large soil Cl storage and internal cycling. Yet, little is known about the spatial distribution of Cl in ecosystems. We quantified patterns of Cl distribution in different habitats along a boreal hillslope moisture gradient ranging from relatively dry upland coniferous forests to wet discharge areas dominated by alder. We confirmed that dry habitats are important for Cl storage but found that Cl pools tended to be larger in moist and wet habitats. The storage of Clorg was less important in wet habitats, suggesting a shift in the balance between soil chlorination and dechlorination rates. Cl concentrations in the herb layer vegetation were high in wet and moist sites attributed to a shift in plant species composition, indicating plant community-dependent ecosystem Cl cycling. Mass-balance calculations showed that internal Cl cycling increased overall ecosystem Cl residence times at all sites and that plant uptake rates of Cl- were particularly high at wet sites. Our results indicate that habitat characteristics including plant communities and hydrology are key for understanding Cl cycling in the environment.


Subject(s)
Ecosystem , Soil , Chlorine/analysis , Wetlands , Chlorides , Forests , Plants
2.
J Radiol Prot ; 42(2)2022 05 20.
Article in English | MEDLINE | ID: mdl-35593511

ABSTRACT

A methodology for addressing the biosphere in safety assessments for solid radioactive waste disposal was developed through theme 1 of the IAEA coordinated research project on BIOsphere Modelling and ASSessment (BIOMASS) that ran from 1996 to 2001. This methodology provided guidance on how the biosphere can be addressed in safety assessments for disposal of solid radioactive waste. Since the methodology was developed, it has proven useful and has been widely referenced in assessments in a diversity of contexts encompassing both near-surface and deep geological disposal of solid radioactive waste. The principles that could be adopted for defining potentially exposed groups (PEGs) were an important aspect in the original BIOMASS methodology as the endpoint of an assessment usually includes the evaluation of individual dose or risk to human health. Identification of PEGs and definition of their characteristics are usually made to be consistent with the biosphere system description being developed, acknowledging that due to inherent uncertainties in projecting future human behaviour, the biosphere models adopted for assessing safety of a disposal system can only be illustrative. Since the publication of the original BIOMASS methodology, consideration has been extended to include potentially exposed populations of biota (PEPs), in the context of dose assessment and protection of the environment. Considering the need for the development of transfer pathways from a source term to an end point (for either PEGs or PEPs), the exposure modes that may occur and those to be assessed quantitatively should be identified. Within an expert working group (WG6) of the second phase of the IAEA coordinated project Modelling and Data for Radiological Impact Assessments (MODARIA II), the experience of participating organisations has been collected on topics associated with the definition of PEGs and PEPs using a questionnaire. The objective of the questionnaire was to review the current status and on-going discussions on the handling of issues related to definitions of PEGs and PEPs as an input to the development of biosphere models for assessing radiological impacts on human health and the environment. The answers received to the questionnaire provided a clear overview of the progress that has been made since the original BIOMASS methodology was published, together with the lessons learned from the application of that methodology in the development of safety cases. This paper summarises the questionnaire responses in five subject areas: (1) environment of the PEGs and its evolution; (2) linking the choice of PEGs to these environments; (3) food habits and consumption rates; (4) populations of non-human biota (PEPs) and (5) national and international regulations and guidance. We illustrate how the results of the questionnaire have been used to enhance the original BIOMASS methodology (IAEA Enhanced BIOMASS Methodology Report in press).


Subject(s)
Radioactive Waste , Radioactivity , Refuse Disposal , Biota , Radioactive Waste/analysis , Solid Waste
3.
Schizophr Res ; 218: 226-232, 2020 04.
Article in English | MEDLINE | ID: mdl-31959509

ABSTRACT

Patients with schizophrenia exhibit a higher cardiovascular mortality compared to the general population which has been attributed to life-style factors, genetic susceptibility and antipsychotic medication. Recent echocardiographic studies have pointed to an association between clozapine treatment and reduced left ventricular ejection fraction (LVEF), a measure that has been inversely associated with adverse outcomes including all-cause mortality. Cardiovascular magnetic resonance (CMR) is considered the reference method for LVEF measurement. The aim of the present study was to investigate the LVEF in patients with schizophrenia on long-term treatment with antipsychotics and healthy controls. Twenty-nine adult patients with schizophrenia on long-term medication with antipsychotics and 27 age-, sex- and body mass index-matched healthy controls (mean ages 44 and 45 years, respectively) were recruited from outpatient psychiatric clinics in Uppsala, Sweden. The participants were interviewed and underwent physical examination, biochemical analyses, electrocardiogram and CMR. Men with schizophrenia on long-term antipsychotic treatment showed significantly lower LVEF than controls (p = 0.0076), whereas no such difference was evident among women (p = 0.44). Specifically, clozapine-treated male patients had 10.6% lower LVEF than male controls (p = 0.0064), whereas the LVEF was 5.5% below that of controls among male patients treated with non-clozapine antipsychotics (p = 0.047). Among medicated men with schizophrenia, we found significantly lower LVEF compared to healthy individuals, suggesting the need of routine cardiac monitoring in this patient group. This is the first study showing a significant negative association between treatment with non-clozapine antipsychotics and LVEF.


Subject(s)
Antipsychotic Agents , Schizophrenia , Adult , Antipsychotic Agents/adverse effects , Female , Humans , Male , Middle Aged , Schizophrenia/diagnostic imaging , Schizophrenia/drug therapy , Stroke Volume , Sweden , Ventricular Function, Left
4.
Sci Total Environ ; 711: 134561, 2020 Apr 01.
Article in English | MEDLINE | ID: mdl-31818588

ABSTRACT

Climate change is predicted to have far reaching consequences for the mobility of carbon in arctic landscapes. On a regional scale, carbon cycling is highly dependent on interactions between terrestrial and aquatic parts of a catchment. Despite this, studies that integrate the terrestrial and aquatic systems and study entire catchments using site-specific data are rare. In this work, we use data partly published by Lindborg et al. (2016a) to calculate a whole-catchment carbon mass-balance budget for a periglacial catchment in West Greenland. Our budget shows that terrestrial net primary production is the main input of carbon (99% of input), and that most carbon leaves the system through soil respiration (90% of total export/storage). The largest carbon pools are active layer soils (53% of total carbon stock or 13 kg C m-2), permafrost soils (30% of total carbon stock or 7.6 kg C m-2) and lake sediments (13% of total carbon stock or 10 kg C m-2). Hydrological transport of carbon from the terrestrial to aquatic system is lower than in wetter climates, but the annual input of 4100 kg C yr-1 (or 3.5 g C m-2 yr-1) that enters the lake via runoff is still three times larger than the eolian input of terrestrial carbon. Due to the dry conditions, the hydrological export of carbon from the catchment is limited (5% of aquatic export/storage or 0.1% of total export/storage). Instead, CO2 evasion from the lake surface and sediment burial accounts for 57% and 38% of aquatic export/storage, respectively (or 0.8% and 0.5% of total export/storage), and Two-Boat Lake acts as a net source of carbon to the atmosphere. The limited export of carbon to downstream water bodies make our study system different from wetter arctic environments, where hydrological transport is an important export pathway for carbon.

5.
Sci Rep ; 8(1): 5452, 2018 04 03.
Article in English | MEDLINE | ID: mdl-29615662

ABSTRACT

Detection of endangered species is invaluable for conservation efforts, yet many traditional sampling techniques are ineffective at low population abundances or during certain periods of the year. Here, we compared results from a newly developed eDNA approach and the traditional observational method for the endangered pool frog (Pelophylax lessonae). Analysis using an occupancy-modeling framework indicated that the probability of pools being occupied using eDNA (0.93) was higher than for the traditional method of counting calling males and silent observed individuals (0.72). Detailed analysis revealed complementarity among the methods. That is, the traditional method gave a high rate of observation in June, whereas eDNA gave at least as many or more observations during other parts of the year. Discrepancies among the methods depended on the dominant lifecycle stage, and eDNA concentrations were higher when juveniles were present than at times when spawning occurred. eDNA concentrations were also positively related to P. lessonae observations. Our study demonstrates that an eDNA protocol for monitoring of endangered amphibian species can be particularly valuable during periods when individuals are hard to detect by observational methods, and provides guidance to sampling efforts for research and monitoring programs in other regions and systems.


Subject(s)
DNA/analysis , Environmental Monitoring/methods , Ranidae/genetics , Animals , Endangered Species , Probability
6.
J Environ Radioact ; 151 Pt 2: 395-403, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26183806

ABSTRACT

In order to assess the potential radiological risk to humans and the environment from a geological repository for radioactive waste, a safety assessment must be performed. This implies that the release and transfer of radionuclides from the repository into the surface environment are calculated and that the effects in the biosphere are evaluated for an assessment period up to one hundred thousand years according to Swedish regulations. This paper discusses the challenges associated with the modelling of surface ecosystems over such long time scales, using the recently completed assessment for the extension of the existing repository for the low- and intermediate-level nuclear waste (called SFR) in Forsmark, Sweden as an applied example. In the assessment, natural variation and uncertainties in climate during the assessment period were captured by using a set of climate cases, primarily reflecting different expectations on the effects of global warming. Development of the landscape at the site, due to post-glacial isostatic rebound, was modelled, and areas where modelling indicated that radionuclides could discharge into the biosphere were identified. Transfers of surface water and groundwater were described with spatially distributed hydrological models. The projected release of radionuclides from the bedrock was then fed into a biosphere radionuclide transport model, simulating the transport and fate of radionuclides within and between ecosystems in the landscape. Annual doses for human inhabitants were calculated by combining activity concentrations in environmental media (soil, water, air and plants) with assumptions on habits and land-use of future human inhabitants. Similarly, dose rates to representative organisms of non-human biota were calculated from activity concentrations in relevant habitats, following the ERICA methodology. In the main scenario, the calculated risk for humans did not exceed the risk criteria or the screening dose rate for non-human biota, indicating that the repository design is sufficient to protect future populations and the environment. Although the combination of radionuclides, land-uses/habitats, type of most exposed population and area of exposure that contribute most to the total dose shifts over time, the total calculated dose shows limited variability. Significant reductions in the dose only occur during submerged periods and under periglacial climate conditions. As several different water and food pathways were equally important for endpoint results, it is concluded that it would be difficult to represent the biosphere with one or a set of simplified models. Instead, we found that it is important to maintain a diversity of food and water pathways, as key pathways for radionuclide accumulation and exposure partly worked in parallel.


Subject(s)
Ecosystem , Radiation Exposure , Radioactive Waste/adverse effects , Soil Pollutants, Radioactive/adverse effects , Forecasting , Humans , Models, Theoretical , Sweden
7.
Ambio ; 42(4): 414-24, 2013 May.
Article in English | MEDLINE | ID: mdl-23619799

ABSTRACT

To assist transport modeling in assessments of the radiological impact of a geological repository for radioactive wastes, the mobility of various elements was studied in arable and wetland soils in the Forsmark region, Sweden. Pore water and total element contents were determined for five types of unconsolidated deposits (regolith), spanning a wide range of soil properties with respect to pH and organic matter content. Two soil depths were sampled to capture element mobility in regolith layers affected and unaffected by soil-forming processes. The solid/liquid partition coefficients (K d values) for most elements varied significantly among regolith types. For most elements, the observed variations in K d values could be explained by variations in soil properties. For many elements, mobility increased with decreasing soil pH. The results provide a significant addition of data on radionuclide retention in soils, taking account of soil properties and processes.


Subject(s)
Radioactive Waste , Soil Pollutants, Radioactive/chemistry , Soil
8.
Ambio ; 42(4): 488-96, 2013 May.
Article in English | MEDLINE | ID: mdl-23619806

ABSTRACT

The radiation doses to humans resulting from a potential release of radionuclides from a geological repository for long-lived waste are assessed over tens or even hundreds of thousands of years. Ingestion is expected to be the major exposure pathway, and the group with the highest exposures will be those that consume the most contaminated food. In this paper, we characterize the group of individuals with the highest exposures by considering the physical and biological characteristics of the contaminated area and human requirements for energy and nutrients. We then calculate intake rates based on land-use scenarios drawn from self-sustained communities spanning prehistoric times to an industrial-age agrarian culture. The approach is illustrated by simulating groundwater release of four radionuclides to an expected discharge area. We argue that the derived intake rates may serve as credible bounding cases when projected doses are evaluated for compliance with regulatory criteria.


Subject(s)
Environmental Exposure , Food , Radiation Dosage
9.
Ambio ; 42(4): 497-505, 2013 May.
Article in English | MEDLINE | ID: mdl-23619807

ABSTRACT

Assessments of radiological impacts on humans and other biota from potential releases to the biosphere from a deep geologic repository for spent nuclear fuel are associated with several challenges. Releases, if any, will likely occur in a far future and to an environment that will have experienced substantial transformations. Such releases would occur over very long periods during which environmental conditions will vary continuously due to climate change and ecosystem succession. Assessments of radiological impacts must therefore be based on simulations using models that can describe the transport and accumulation of radionuclides for a large variety of environmental conditions. In this paper we describe such a model and show examples of its application in a safety assessment, taking into account results from sensitivity and uncertainty analyses of the model predictions.


Subject(s)
Models, Theoretical , Radioactive Pollutants/chemistry , Radioisotopes/chemistry , Uncertainty
10.
Ambio ; 42(4): 506-16, 2013 May.
Article in English | MEDLINE | ID: mdl-23619808

ABSTRACT

This study investigates whether non-human biota are protected against harmful effects of ionizing radiation after a possible future release of radioactive matter from a planned repository for spent nuclear fuel. Radiation dose rates to a broad spectrum of organisms were calculated based on data from sampled organisms and modeled activity concentrations. Calculations were performed with the ERICA Tool, a software program which applies a screening dose-rate value of 10 microgray per hour (µGy h(-1)) for all types of organisms. Dose rates below this value are thought to result in minimal risk to the individual or population. All calculated dose rates were below the screening value and below the lowest relevant band of "derived consideration levels" proposed by the International Commission on Radiological Protection. This provides a sound basis for arguing that no individuals or populations of examined species would be harmfully affected by a possible radioactive release from the repository.


Subject(s)
Geology , Plants , Radioactive Pollutants , Animals , Environmental Exposure
11.
Am J Med Genet B Neuropsychiatr Genet ; 159B(8): 981-6, 2012 Dec.
Article in English | MEDLINE | ID: mdl-23076983

ABSTRACT

Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in metabolic pathways of importance for nucleotide synthesis and methylation of DNA, membranes, proteins and lipids. The MTHFR gene includes a common polymorphism (rs1801133 or C677T), which is associated with enzyme activity. The T-allele of the C677T polymorphism has been associated with earlier age at onset of schizophrenia in a Scandinavian population, although no association was found in replication attempts in other populations. Extending the study to five Nordic samples consisting of 2,198 patients with schizophrenia, including the original Scandinavian samples, there was no significant association between MTHFR C677T polymorphism and age at onset in schizophrenia. The present results do not suggest that the investigated MTHFR polymorphism has any significant influence on age at onset of schizophrenia in the Nordic population.


Subject(s)
Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Schizophrenia/epidemiology , Schizophrenia/genetics , Age of Onset , Female , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Humans , Male , Norway/epidemiology , Polymorphism, Single Nucleotide
12.
Behav Brain Funct ; 8: 24, 2012 May 17.
Article in English | MEDLINE | ID: mdl-22594806

ABSTRACT

BACKGROUND: The serotonin (5-hydroxytryptamin; 5-HT) system has a central role in the circuitry of cognition and emotions. Multiple lines of evidence suggest that genetic variation in the serotonin transporter gene (SLC6A4; 5-HTT) is associated with schizophrenia and suicidal behavior. In this study, we wanted to elucidate whether SLC6A4 variations is involved in attempted suicide among patients with schizophrenia in a Scandinavian case-control sample. METHODS: Patients diagnosed with schizophrenia from three Scandinavian samples were assessed for presence or absence of suicide attempts, based on record reviews and interview data. Seven SLC6A4 single nucleotide polymorphisms (SNPs) were genotyped in 837 schizophrenia patients and 1,473 control individuals. Association analyses and statistical evaluations were performed with the program UNPHASED (version 3.0.9). RESULTS: We observed an allele association between the SNP rs16965628, located in intron one of SLC6A4, and attempted suicide (adjusted p-value 0.01), among patients with schizophrenia. No association was found to a diagnosis of schizophrenia, when patients were compared to healthy control individuals. CONCLUSION: The gene SLC6A4 appears to be involved in suicidal ideation among patients with schizophrenia. Independent replication is needed before more firm conclusions can be drawn.


Subject(s)
Polymorphism, Single Nucleotide , Schizophrenia/genetics , Schizophrenic Psychology , Serotonin Plasma Membrane Transport Proteins/genetics , Suicide/psychology , Adult , Alleles , Female , Genetic Association Studies , Genetic Predisposition to Disease , Genotype , Haplotypes , Humans , Male , Middle Aged , Suicidal Ideation
13.
Eur Arch Psychiatry Clin Neurosci ; 262(7): 549-56, 2012 Oct.
Article in English | MEDLINE | ID: mdl-22454242

ABSTRACT

The D-amino acid oxidase activator (DAOA) protein regulates the function of D-amino oxidase (DAO), an enzyme that catalyzes the oxidative deamination of D-3,4-dihydroxyphenylalanine (D-DOPA) and D-serine. D-DOPA is converted to L-3,4-DOPA, a precursor of dopamine, whereas D-serine participates in glutamatergic transmission. We hypothesized that DAOA polymorphisms are associated with dopamine, serotonin and noradrenaline turnover in the human brain. Four single-nucleotide polymorphisms, previously reported to be associated with schizophrenia, were genotyped. Cerebrospinal fluid (CSF) samples were drawn by lumbar puncture, and the concentrations of the major dopamine metabolite homovanillic acid (HVA), the major serotonin metabolite 5-hydroxyindoleacetic acid (5-HIAA) and the major noradrenaline metabolite 3-methoxy-4-hydroxyphenylglycol (MHPG) were measured. Two of the investigated polymorphisms, rs3918342 and rs1421292, were significantly associated with CSF HVA concentrations. Rs3918342 was found to be nominally associated with CSF 5-HIAA concentrations. None of the polymorphisms were significantly associated with MHPG concentrations. Our results indicate that DAOA gene variation affects dopamine turnover in healthy individuals, suggesting that disturbed dopamine turnover is a possible mechanism behind the observed associations between genetic variation in DAOA and behavioral phenotypes in humans.


Subject(s)
D-Amino-Acid Oxidase/genetics , Homovanillic Acid/cerebrospinal fluid , Polymorphism, Single Nucleotide/genetics , Adolescent , Adult , Female , Gene Frequency , Genetic Association Studies , Genotype , Humans , Linkage Disequilibrium , Male , White People , Young Adult
14.
J Psychiatry Neurosci ; 37(1): 53-7, 2012 Jan.
Article in English | MEDLINE | ID: mdl-21693093

ABSTRACT

BACKGROUND: Patients with schizophrenia show increased brain and cerebrospinal fluid (CSF) concentrations of the endogenous N-methyl-D-aspartate receptor antagonist kynurenic acid (KYNA). This compound is an end-metabolite of the kynurenine pathway, and its formation indirectly depends on the activity of kynurenine 3-monooxygenase (KMO), the enzyme converting kynurenine to 3-hydroxykynurenine. METHODS: We analyzed the association between KMO gene polymorphisms and CSF concentrations of KYNA in patients with schizophrenia and healthy controls. Fifteen single nucleotide polymorphisms (SNPs) were selected covering KMO and were analyzed in UNPHASED. RESULTS: We included 17 patients with schizophrenia and 33 controls in our study. We found an association between a KMO SNP (rs1053230), encoding an amino acid change of potential importance for substrate interaction, and CSF concentrations of KYNA. LIMITATIONS: Given the limited sample size, the results are tentative until replication. CONCLUSION: Our results suggest that the nonsynonymous KMO SNP rs1053230 influences CSF concentrations of KYNA.


Subject(s)
Kynurenic Acid/metabolism , Kynurenine 3-Monooxygenase/genetics , Schizophrenia/genetics , Adult , Alleles , Brain/metabolism , Genetic Association Studies , Genotype , Humans , Kynurenine 3-Monooxygenase/metabolism , Polymorphism, Single Nucleotide , Schizophrenia/metabolism
16.
Hum Psychopharmacol ; 26(4-5): 322-31, 2011.
Article in English | MEDLINE | ID: mdl-21695733

ABSTRACT

OBJECTIVE: Patients treated with antipsychotic drugs often receive concomitant psychotropic compounds. Few studies address this issue from a lifetime perspective. Here, an analysis is presented of the prescription pattern of such concomitant medication from the first contact with psychiatry until the last written note in the case history documents, in patients with a diagnosis of psychotic illness. METHODS: A retrospective descriptive analysis of all case history data of 66 patients diagnosed with schizophrenia or schizophrenia-like psychotic disorders. RESULTS: Benzodiazepines and benzodiazepine-related anxiolytic drugs had been prescribed to 95% of the patients, other anxiolytics, sedatives or hypnotic drugs to 61%, anti-parkinsonism drugs to 86%, and antidepressants to 56% of the patients. However, lifetime doses were small and most of the time patients had no concomitant medication. The prescribed lifetime dose of anti-parkinsonism drugs was associated with that of prescribed first-generation but not second-generation antipsychotics. CONCLUSIONS: Most psychosis patients are sometimes treated with concomitant drugs but mainly over short periods. Lifetime concomitant add-on medication at the individual patient level is variable and complex but not extensive.


Subject(s)
Antipsychotic Agents/therapeutic use , Psychotic Disorders/drug therapy , Psychotropic Drugs/therapeutic use , Schizophrenia/drug therapy , Adult , Anti-Anxiety Agents/therapeutic use , Antidepressive Agents/therapeutic use , Antiparkinson Agents/therapeutic use , Diagnostic and Statistical Manual of Mental Disorders , Drug Therapy, Combination , Female , Hospitals, Urban , Humans , Hypnotics and Sedatives/therapeutic use , Male , Middle Aged , Outpatient Clinics, Hospital , Retrospective Studies , Sweden , Young Adult
18.
Am J Med Genet B Neuropsychiatr Genet ; 156(2): 215-24, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21302350

ABSTRACT

Methylenetetrahydrofolate reductase (MTHFR) is involved in the one-carbon cycle, which is of importance for nucleotide synthesis and methylation of DNA, membranes, proteins and lipids. The MTHFR gene includes two common polymorphisms (rs1801133 or C677T; rs1801131 or A1298C) which both alter enzyme activity. The T-allele of the C677T polymorphism has recently been associated with earlier age at onset of schizophrenia. In the present study we examined the association between the MTHFR C677T and A1298C polymorphisms and age at onset of schizophrenia in twelve samples consisting of 3,213 unrelated schizophrenia patients, including the original Scandinavian sample. There was no consistent relationship between MTHFR C677T, A1298C or combined 677T/1298C carriers and age of onset in schizophrenia when the results of each study were combined using meta-analysis. The present results suggest that the investigated MTHFR polymorphisms do not influence age of onset in schizophrenia.


Subject(s)
Age of Onset , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Genetic , Schizophrenia/genetics , Alleles , Carbon Cycle , Female , Humans , Male , Meta-Analysis as Topic , White People/genetics , Young Adult
19.
Eur Neuropsychopharmacol ; 21(9): 700-4, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21295953

ABSTRACT

The dystrobrevin binding protein-1 (DTNBP1) gene encodes dysbindin-1, a protein involved in neurodevelopmental and neurochemical processes related mainly to the monoamine dopamine. We investigated possible associations between eleven DTNBP1 polymorphisms and cerebrospinal fluid (CSF) concentrations of the major dopamine metabolite homovanillic acid (HVA), the major serotonin metabolite 5-hydroxyindoleacetic acid (5-HIAA), and the major noradrenaline metabolite 3-methoxy-4-hydroxyphenylglycol (MHPG) in healthy human subjects (n=132). Two polymorphisms, rs2619538 and rs760666, were nominally associated with CSF HVA and 5-HIAA concentrations, whereas a third polymorphism, rs909706, showed association only with HVA. After correction for multiple testing only the associations between rs2619538 and HVA and 5-HIAA concentrations remained significant. No significant association was found between any of the investigated DTNBP1 polymorphisms and CSF MHPG concentrations. The results suggest that genetic variation in DTNBP1 gene affects the regulation of dopamine and serotonin turnover in the central nervous system of healthy volunteers.


Subject(s)
Carrier Proteins/genetics , Carrier Proteins/metabolism , Homovanillic Acid/cerebrospinal fluid , Hydroxyindoleacetic Acid/cerebrospinal fluid , Methoxyhydroxyphenylglycol/cerebrospinal fluid , Neurotransmitter Agents/metabolism , Dopamine/metabolism , Dysbindin , Dystrophin-Associated Proteins , Female , Gene Frequency , Genetic Variation , Genotype , Homovanillic Acid/metabolism , Humans , Hydroxyindoleacetic Acid/metabolism , Male , Methoxyhydroxyphenylglycol/metabolism , Nerve Tissue Proteins/metabolism , Norepinephrine/metabolism , Polymorphism, Single Nucleotide , Serotonin/metabolism
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