Spatial and temporal variation of fish assemblage associated with aquatic macrophyte patches in the littoral zone of the Ayapel Swamp Complex, Colombia

ABSTRACT: Aim: The purpose of the present study was to examine spatial and temporal variation in fish assemblage structure associated with aquatic macrophytes in the littoral zone of the ASC. Methods: Specimens were caught between January 2008 and February 2009, over four limnimetric moments, using both cast net and seine net. Data on the temperature, electrical conductivity, pH and dissolved oxygen was recorded for the characterization of the water mass in the sites. Results: A total of 34,151 specimens from 44 species were collected. The most abundant species were Eigenmannia virescens, Astyanax caucanus, Astyanax fasciatus, Roeboides dayi and Cyphocharax magdalenae, which together accounted for more than 75% of the sample. Temporal and spatial comparisons showed variation in the environmental conditions and highlighted the existence of heterogeneous abiotic conditions (p0.05) regarding the fish assemblage structure. The multivariate analysis showed no significant relationship between existing environmental conditions and the fish assemblage (p=0.04). The analysis also showed the absence of a relationship between the fish assemblage and environmental variables with respect to the flood pulse and sampling sites (p>0.05). Conclusion: The uniformity of the fish communities that inhabit aquatic macrophyte patches in the littoral region of the ASC may be related to the availability of suitable habitat in structural terms, that probably supports a more abundant and varied wildlife

Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder

Individual response to stress is correlated with neuroticism and is an important predictor of both neuroticism and the onset of major depressive disorder (MDD). Identification of the genetics underpinning individual differences in response to negative events (stress-sensitivity) may improve our understanding of the molecular pathways involved, and its association with stress-related illnesses. We sought to generate a proxy for stress-sensitivity through modelling the interaction between SNP allele and MDD status on neuroticism score in order to identify genetic variants that contribute to the higher neuroticism seen in individuals with a lifetime diagnosis of depression compared to unaffected individuals. Meta-analysis of genome-wide interaction studies (GWIS) in UK Biobank (N = 23,092) and Generation Scotland: Scottish Family Health Study (N = 7,155) identified no genome-wide significance SNP interactions. However, gene-based tests identified a genome-wide significant gene, ZNF366, a negative regulator of glucocorticoid receptor function implicated in alcohol dependence (p = 1.48x10-7; Bonferroni-corrected significance threshold p < 2.79x10-6). Using summary statistics from the stress-sensitivity term of the GWIS, SNP heritability for stress-sensitivity was estimated at 5.0%. In models fitting polygenic risk scores of both MDD and neuroticism derived from independent GWAS, we show that polygenic risk scores derived from the UK Biobank stress-sensitivity GWIS significantly improved the prediction of MDD in Generation Scotland. This study may improve interpretation of larger genome-wide association studies of MDD and other stress-related illnesses, and the understanding of the etiological mechanisms underpinning stress-sensitivity

Identification of common genetic risk variants for autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.Peer reviewe

Genome-wide by Environment Interaction Studies of Depressive Symptoms and Psychosocial Stress in UK Biobank and Generation Scotland

Stress is associated with poorer physical and mental health. To improve our understanding of this link, we performed genome-wide association studies (GWAS) of depressive symptoms and genome-wide by environment interaction studies (GWEIS) of depressive symptoms and stressful life events (SLE) in two UK population-based cohorts (Generation Scotland and UK Biobank). No SNP was individually significant in either GWAS, but gene-based tests identified six genes associated with depressive symptoms in UK Biobank (DCC, ACSS3, DRD2, STAG1, FOXP2 and KYNU; p < 2.77 x 10(-6)). Two SNPs with genome-wide significant GxE effects were identified by GWEIS in Generation Scotland: rs12789145 (53-kb downstream PIWIL4; p = 4.95 x 10(-9); total SLE) and rs17070072 (intronic to ZCCHC2; p = 1.46 x 10(-8); dependent SLE). A third locus upstream CYLC2 (rs12000047 and rs12005200, p < 2.00 x 10(-8); dependent SLE) when the joint effect of the SNP main and GxE effects was considered. GWEIS gene-based tests identified: MTNR1B with GxE effect with dependent SLE in Generation Scotland; and PHF2 with the joint effect in UK Biobank (p < 2.77 x 10(-6)). Polygenic risk scores (PRSs) analyses incorporating GxE effects improved the prediction of depressive symptom scores, when using weights derived from either the UK Biobank GWAS of depressive symptoms (p = 0.01) or the PGC GWAS of major depressive disorder (p = 5.91 x 10(-3)). Using an independent sample, PRS derived using GWEIS GxE effects provided evidence of shared aetiologies between depressive symptoms and schizotypal personality, heart disease and COPD. Further such studies are required and may result in improved treatments for depression and other stress-related conditions

Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns

Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions to DNAm, few have assessed their integrated effects. Here we examine the relative contributions of prenatal environmental factors and genotype on DNA methylation in neonatal blood at variably methylated regions (VMRs) in 4 independent cohorts (overall n = 2365). We use Akaike’s information criterion to test which factors best explain variability of methylation in the cohort-specific VMRs: several prenatal environmental factors (E), genotypes in cis (G), or their additive (G + E) or interaction (GxE) effects. Genetic and environmental factors in combination best explain DNAm at the majority of VMRs. The CpGs best explained by either G, G + E or GxE are functionally distinct. The enrichment of genetic variants from GxE models in GWAS for complex disorders supports their importance for disease risk

The genetics of the mood disorder spectrum:genome-wide association analyses of over 185,000 cases and 439,000 controls

Background Mood disorders (including major depressive disorder and bipolar disorder) affect 10-20% of the population. They range from brief, mild episodes to severe, incapacitating conditions that markedly impact lives. Despite their diagnostic distinction, multiple approaches have shown considerable sharing of risk factors across the mood disorders. Methods To clarify their shared molecular genetic basis, and to highlight disorder-specific associations, we meta-analysed data from the latest Psychiatric Genomics Consortium (PGC) genome-wide association studies of major depression (including data from 23andMe) and bipolar disorder, and an additional major depressive disorder cohort from UK Biobank (total: 185,285 cases, 439,741 controls; non-overlapping N = 609,424). Results Seventy-three loci reached genome-wide significance in the meta-analysis, including 15 that are novel for mood disorders. More genome-wide significant loci from the PGC analysis of major depression than bipolar disorder reached genome-wide significance. Genetic correlations revealed that type 2 bipolar disorder correlates strongly with recurrent and single episode major depressive disorder. Systems biology analyses highlight both similarities and differences between the mood disorders, particularly in the mouse brain cell-types implicated by the expression patterns of associated genes. The mood disorders also differ in their genetic correlation with educational attainment – positive in bipolar disorder but negative in major depressive disorder. Conclusions The mood disorders share several genetic associations, and can be combined effectively to increase variant discovery. However, we demonstrate several differences between these disorders. Analysing subtypes of major depressive disorder and bipolar disorder provides evidence for a genetic mood disorders spectrum

Propofol-Associated Urine Discoloration: Systematic Literature Review.

Propofol occasionally induces a green or pink-cloudy urine discoloration. A lesser-known effect is green discoloration of hair, milk, liver, or stool. We aimed to gain insight into the features of these disturbances. The terms ("propofol" OR "fospropofol") AND ("green" OR "pink" OR "cloudy" OR "pink-cloudy") were searched in Excerpta Medica, MEDLINE/PubMed®, and Web of Sciences databases, with no language limit, from inception up to February 2023 (CRD4202236804). Articles reporting individually documented cases were retained, and data were extracted using a checklist. Seventy-seven original reports documented 95 cases (including 13 subjects ≤18 years of age). Completeness of reporting was satisfactory in 33, good in 35, and excellent in 27 cases. Propofol-associated green urine discoloration was observed in 54 patients. In most instances (n = 21, 39%), propofol was given for ≥24 h. Sometimes, however, the urine discoloration developed after propofol for ≤3 h (n = 12, 22%). Propofol-associated urine discoloration was usually observed during the administration of this agent, but it was at times (n = 11) first recognized ≥3 h after propofol discontinuation. The duration of green urine discoloration was usually ≤24 h after stopping propofol. Propofol-associated green urine discoloration was never associated with worsening kidney function. A pink-cloudy urine discoloration was observed in 32 subjects with an acidic urine pH and increased uric acid excretion given propofol for ≤24 h. A stage I acute kidney injury was observed in 2 cases (6.3%) of propofol-associated pink-cloudy urine discoloration. Nine cases of non-urinary green discoloration were observed: hair (n = 4), breast milk (n = 1), liver (n = 1), stool (n = 1). Propofol is sometimes associated with a green (benign) or pink-cloudy (occasionally associated with mild acute kidney injury) urine discoloration. Rarely, non-urinary green discoloration has been reported