A fisheries acoustic multi-frequency indicator to inform on large scale spatial patterns of aquatic pelagic ecosystems

Fisheries acoustic instruments provide information on four major groups in aquatic ecosystems: fish with and without swim bladder (tertiary and quaternary consumers), fluidlike zooplankton (secondary consumers) and small gas bearing organisms such as larval fish and phytoplankton (predominantly primary producers). We entertain that this information is useable to describe the spatial structure of organism groups in pelagic ecosystems. The proposal we make is based on a multi-frequency indicator that synthesises in a single metric the shape of the acoustic frequency response of different organism groups, i.e. the dependence of received acoustic backscattered energy on emitting echosounder frequency. We demonstrate the development and interpretation of the multi-frequency indicator using simulated data. We then calculate the indicator for acoustic water-column survey data from the Bay of Biscay and use it to create reference maps for the spatial structure of the four scattering groups as well as their small scale spatial variability. These maps provide baselines for monitoring future changes in the structure of the pelagic ecosystem

Early Aptian δ13C and manganese anomalies from the historical Cassis-La Bédoule stratotype sections (S.E. France): relationship with a methane hydrate dissociation event and stratigraphic implications

International audienceComparison of oxygen and carbon isotope and manganese evolution curves in bulk carbonate from the historical Bedoulian stratotype (Cassis-La Bédoule area, Provence, France) reveals an important geochemical event (negative δ13C and high Mn content) located within the D. deshayesi ammonite Zone and at the base of the R. hambrowi ammonite Subzone. This worldwide event, which can be observed in environments ranging from the fluvial to the pelagic realm (Selli/Goguel level), seems to be related to methane hydrate destabilization. Scenarios for manganese, carbon and oxygen evolutions are proposed for early Bedoulian oxic conditions and for dysoxic/anoxic conditions related to methane hydrate destabilization at the early/late Bedoulian transition. The impacts of this global event on the biosphere (nannoconid crisis) and its stratigraphic implications are considered. Comparison of geochemical and biostratigraphical data from the Cassis-La Bédoule stratotype with that of the Cismon- Apticore reference borehole shows that the La Bedoule sequence records geochemical evolution during the Goguel/Selli Event in more detail than that of any other previously published section. –––Anomalies géochimiques (?13C et manganèse) dans l'Aptien inférieur du stratotype historique de Cassis-La Bédoule (S.E. France) : relation avec un événement de dissociation d'hydrates de méthane et implications stratigraphiques.- La comparaison des courbes isotopiques (carbone et oxygène) et des teneurs en manganèse de la série du stratotype historique du Bédoulien (coupes de Cassis-La Bédoule, Provence, France) met en évidence des anomalies géochimiques (accident négatif du ?13C et pic des teneurs en Mn) se développant dans les zones d'ammonites à D. deshayesi et à R. hambrowi. Cet événement, d'occurrence mondiale, qui s'enregistre dans tous les environnements sédimentaires (niveau Selli/Goguel), parait lié à une période de déstabilisation des hydrates de méthane. Deux modèles de comportement du manganèse et des isotopes du carbone et de l'oxygène sont proposés. Le premier correspond aux conditions oxiques régnant au début du Bédoulien, le second aux conditions dysoxiques/anoxiques liées à la dissociatio

Anomalies géochimiques (δ13C et manganèse) dans l'Aptien inférieur du stratotype historique de Cassis-La Bédoule (S.E. France) : relation avec un événement de dissociation d'hydrates de méthane et implications stratigraphiques

La comparaison des courbes isotopiques (carbone et oxygène) et des teneurs en manganèse de la série du stratotype historique du Bédoulien (coupes de Cassis-La Bédoule, Provence, France) met en évidence des anomalies géochimiques (accident négatif du δ13C et pic des teneurs en Mn) se développant dans les zones d'ammonites à D. deshayesi et à R. hambrowi. Cet événement, d'occurrence mondiale, qui s'enregistre dans tous les environnements sédimentaires (niveau Selli/Goguel), parait lié à une période de déstabilisation des hydrates de méthane. Deux modèles de comportement du manganèse et des isotopes du carbone et de l'oxygène sont proposés. Le premier correspond aux conditions oxiques régnant au début du Bédoulien, le second aux conditions dysoxiques/anoxiques liées à la dissociation des hydrates de méthane au cours de la transition Bédoulien inférieur/Bédoulien supérieur. L'impact sur la biosphère (crises des nannoconidés) et les implications stratigraphiques sont discutés. La comparaison des données biostratigraphiques et géochimiques issues de la région stratotypique et du sondage de référence de Cismon-Apticore (Italie) montre que la série de la Bédoule enregistre les évolutions géochimiques au cours de l'événement Selli/Goguel d'une façon plus complète que les autres coupes précédemment publiées.Comparison of oxygen and carbon isotope and manganese evolution curves in bulk carbonate from the historical Bedoulian stratotype (Cassis-La Bédoule area, Provence, France) reveals an important geochemical event (negative δ13C and high Mn content) located within the D. deshayesi ammonite Zone and at the base of the R. hambrowi ammonite Subzone. This worldwide event, which can be observed in environments ranging from the fluvial to the pelagic realm (Selli/Goguel level), seems to be related to methane hydrate destabilization. Scenarios for manganese, carbon and oxygen evolutions are proposed for early Bedoulian oxic conditions and for dysoxic/anoxic conditions related to methane hydrate destabilization at the early/late Bedoulian transition. The impacts of this global event on the biosphere (nannoconid crisis) and its stratigraphic implications are considered. Comparison of geochemical and biostratigraphical data from the Cassis-La Bédoule stratotype with that of the Cismon-Apticore reference borehole shows that the La Bedoule sequence records geochemical evolution during the Goguel/Selli Event in more detail than that of any other previously published section

Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study

Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric disorders. Currently, these findings are being translated into clinical practice. However, there is a lack of knowledge and guidelines for psychiatric genetic testing (PsychGT) and genetic counseling (PsychGC). The European Union-funded COST action EnGagE (CA17130) network was started to investigate the current implementation status of PsychGT and PsychGC across 35 participating European countries. Here, we present the results of a pan-European online survey in which we gathered the opinions, knowledge, and practices of a self-selected sample of professionals involved/interested in the field. We received answers from 181 respondents. The three main occupational categories were genetic counselor (21.0%), clinical geneticist (24.9%), and researcher (25.4%). Of all 181 respondents, 106 provide GC for any psychiatric disorder or NDD, corresponding to 58.6% of the whole group ranging from 43.2% in Central Eastern Europe to 66.1% in Western Europe. Overall, 65.2% of the respondents reported that genetic testing is offered to individuals with NDD, and 26.5% indicated the same for individuals with major psychiatric disorders. Only 22.1% of the respondents indicated that they have guidelines for PsychGT. Pharmacogenetic testing actionable for psychiatric disorders was offered by 15%. Interestingly, when genetic tests are fully covered by national health insurance, more genetic testing is provided for individuals with NDD but not those with major psychiatric disorders. Our qualitative analyses of responses highlight the lack of guidelines and knowledge on utilizing and using genetic tests and education and training as the major obstacles to implementation. Indeed, the existence of psychiatric genetic training courses was confirmed by only 11.6% of respondents. The question on the relevance of up-to-date education and training in psychiatric genetics on everyday related practice was highly relevant. We provide evidence that PsychGC and PsychGT are already in use across European countries, but there is a lack of guidelines and education. Harmonization of practice and development of guidelines for genetic counseling, testing, and training professionals would improve equality and access to quality care for individuals with psychiatric disorders within Europe

Variability in Working Memory Performance Explained by Epistasis vs Polygenic Scores in the ZNF804A Pathway

Importance: We investigated the variation in neuropsychological function explained by risk alleles at the psychosis susceptibility gene ZNF804A and its interacting partners using single nucleotide polymorphisms (SNPs), polygenic scores, and epistatic analyses. Of particular importance was the relative contribution of the polygenic score vs epistasis in variation explained. Objectives To (1) assess the association between SNPs in ZNF804A and the ZNF804A polygenic score with measures of cognition in cases with psychosis and (2) assess whether epistasis within the ZNF804A pathway could explain additional variation above and beyond that explained by the polygenic score. Design, Setting, and Participants: Patients with psychosis (n = 424) were assessed in areas of cognitive ability impaired in schizophrenia including IQ, memory, attention, and social cognition. We used the Psychiatric GWAS Consortium 1 schizophrenia genome-wide association study to calculate a polygenic score based on identified risk variants within this genetic pathway. Cognitive measures significantly associated with the polygenic score were tested for an epistatic component using a training set (n = 170), which was used to develop linear regression models containing the polygenic score and 2-SNP interactions. The best-fitting models were tested for replication in 2 independent test sets of cases: (1) 170 individuals with schizophrenia or schizoaffective disorder and (2) 84 patients with broad psychosis (including bipolar disorder, major depressive disorder, and other psychosis). Main Outcomes and Measures: Participants completed a neuropsychological assessment battery designed to target the cognitive deficits of schizophrenia including general cognitive function, episodic memory, working memory, attentional control, and social cognition. Results: Higher polygenic scores were associated with poorer performance among patients on IQ, memory, and social cognition, explaining 1% to 3% of variation on these scores (range, P = .01 to .03). Using a narrow psychosis training set and independent test sets of narrow phenotype psychosis (schizophrenia and schizoaffective disorder), broad psychosis, and control participants (n = 89), the addition of 2 interaction terms containing 2 SNPs each increased the R2 for spatial working memory strategy in the independent psychosis test sets from 1.2% using the polygenic score only to 4.8% (P = .11 and .001, respectively) but did not explain additional variation in control participants. Conclusions and Relevance: These data support a role for the ZNF804A pathway in IQ, memory, and social cognition in cases. Furthermore, we showed that epistasis increases the variation explained above the contribution of the polygenic score

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (OR=1.11, P=5.7×10−15), which persisted after excluding loci implicated in previous studies (OR=1.07, P=1.7 ×10−6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 ×10−11) and neurobehavioral phenotypes in mouse (OR = 1.18, P= 7.3 ×10−5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by non-allelic homologous recombination

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study

It is well known that inbreeding increases the risk of recessive monogenic diseases, but it is less certain whether it contributes to the etiology of complex diseases such as schizophrenia. One way to estimate the effects of inbreeding is to examine the association between disease diagnosis and genome-wide autozygosity estimated using runs of homozygosity (ROH) in genome-wide single nucleotide polymorphism arrays. Using data for schizophrenia from the Psychiatric Genomics Consortium (n = 21,868), Keller et al. (2012) estimated that the odds of developing schizophrenia increased by approximately 17% for every additional percent of the genome that is autozygous (β = 16.1, CI(β) = [6.93, 25.7], Z = 3.44, p = 0.0006). Here we describe replication results from 22 independent schizophrenia case-control datasets from the Psychiatric Genomics Consortium (n = 39,830). Using the same ROH calling thresholds and procedures as Keller et al. (2012), we were unable to replicate the significant association between ROH burden and schizophrenia in the independent PGC phase II data, although the effect was in the predicted direction, and the combined (original + replication) dataset yielded an attenuated but significant relationship between Froh and schizophrenia (β = 4.86,CI(β) = [0.90,8.83],Z = 2.40,p = 0.02). Since Keller et al. (2012), several studies reported inconsistent association of ROH burden with complex traits, particularly in case-control data. These conflicting results might suggest that the effects of autozygosity are confounded by various factors, such as socioeconomic status, education, urbanicity, and religiosity, which may be associated with both real inbreeding and the outcome measures of interest

Age at first birth in women is genetically associated with increased risk of schizophrenia

Prof. Paunio on PGC:n jäsenPrevious studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia and AFB in women stratified into younger and older groups. We find evidence for an association between predicted genetic risk of schizophrenia and AFB in women (P-value = 1.12E-05), and we show genetic heterogeneity between younger and older AFB groups (P-value = 3.45E-03). The genetic correlation between schizophrenia and AFB in the younger AFB group is -0.16 (SE = 0.04) while that between schizophrenia and AFB in the older AFB group is 0.14 (SE = 0.08). Our results suggest that early, and perhaps also late, age at first birth in women is associated with increased genetic risk for schizophrenia in the UK Biobank sample. These findings contribute new insights into factors contributing to the complex bio-social risk architecture underpinning the association between parental age and offspring mental health.Peer reviewe

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

A. Palotie on työryhmän Schizophrenia Working Grp Psychiat jäsen.We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome-wide association study data from over 100,000 unique individuals. Using linkage disequilibrium score regression, we estimate the genetic correlation between ALS and schizophrenia to be 14.3% (7.05-21.6; P = 1 x 10(-4)) with schizophrenia polygenic risk scores explaining up to 0.12% of the variance in ALS (P = 8.4 x 10(-7)). A modest increase in comorbidity of ALS and schizophrenia is expected given these findings (odds ratio 1.08-1.26) but this would require very large studies to observe epidemiologically. We identify five potential novel ALS-associated loci using conditional false discovery rate analysis. It is likely that shared neurobiological mechanisms between these two disorders will engender novel hypotheses in future preclinical and clinical studies.Peer reviewe