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Parker, N.

Publications and source records attributed to Parker, N..

13 recordsLinked to original sources

Integrative multiomics profiling of cortical brain organoids reveals a druggable alternative splicing program in schizophrenia

Clozapine (CLZ) is the only available pharmacological option for treatment resistant schizophrenia (TRS), but its use is limited due to adverse drug reactions and potential cytotoxicity. Despite decades of research, the precise mechanisms of action of CLZ in the human brain remain poorly understood. To address this, we derived cortical brain organoids from a large cohort of schizophrenia (SCZ) patients and healthy controls and employed a comprehensive multiomics strategy to dissect the cellular mechanisms of long-term CLZ exposure of up to 24 weeks. We uncovered a SCZ-specific and metabolism-independent alternative splicing program that was amenable to non-toxic CLZ treatment. In-depth analysis revealed a key role of exon skipping and intron retention in glutamatergic neurons. This program was further found to recapitulate disease mechanisms in primary human brain tissue and capture splicing-mediated genetic signals of SCZ risk. These findings highlight alternative splicing as a promising avenue for therapeutic developments in TRS.

neuroscience↗

Beyond Exons: Linking Noncoding Heritability and Polygenicity across Complex Human Traits and Disorders

The genetic architecture of complex traits spans a continuum of polygenicity, yet it remains unclear how differences in polygenicity relate to the functional localization of SNP heritability across the genome. We use a MiXeR-based framework to partition heritability across exonic, intronic, and intergenic regions for 34 traits and introduce a likelihood-based annotation contribution score that quantifies annotation-specific impact on heritability. Exons explain a minority of heritability, and their contribution decreases with increasing polygenicity, from an average of 22% in less polygenic somatic diseases and biomarkers to 13% in highly polygenic psychiatric and cognitive phenotypes. Intergenic fractions show the opposite trend, whereas intronic fractions remain relatively stable. Analysis of a broader set of functional annotations reveals systematic differences along the polygenicity axis: highly polygenic traits show stronger contributions from comparative genomics and variant-effect scores, whereas less polygenic traits show stronger contributions in promoter, transcription, and chromatin annotations. Together, these results indicate that the functional partitioning of heritability systematically varies with polygenicity, pointing to a shift from gene-proximal regulatory architectures to architectures shaped by numerous dispersed regulatory effects as a key determinant of differences in polygenicity across traits.

genetics↗

Structural variants contribute substantially to complex trait heritability

Despite accumulating evidence that structural variants (SVs) exert disproportionate functional effects, their genome-wide contribution to complex trait heritability has not yet been systematically quantified. Here, we introduce MiXeRSV, a tool that integrates long-read-derived SVs from existing reference catalogs with genome-wide association summary statistics to quantify SV heritability and enrichment. Applying MiXeR-SV to 105 complex traits, we identify 31 traits with significant enrichment (Bonferroni-corrected P < 4.8 x 10-4), with SVs explaining up to 32% of total heritability, despite comprising only 0.6% of the analyzed variants. Enrichment is most extensive in hematological, metabolic/biomarker, and cancer traits, trait-specific in neuropsychiatric and cardiometabolic phenotypes, and observed across all anthropometric traits, albeit with modest effect sizes, consistent with their highly genetic architecture. These findings are robust across two independent SV reference panels built from complementary long-read and graph-based variant catalogs, with 93.5% of significant traits consistent between technologies. Furthermore, incorporating SV architecture into heritability models consistently increases total heritability estimates in enriched phenotypes, with SV heritability proportions correlating with the gap between SNP-based and twin heritability estimates across traits. Cross-ancestry replication in Biobank Japan confirms enrichment patterns. Our quantification of SVs contributions to genetic architectures has significant implications for genetic prediction and fine-mapping of human complex traits and common diseases.

genetics↗

The impacts of grazing pressure by large herbivores on short-tailed field vole (Microtus agrestis) population cycles: results from a long-term upland experiment

Understanding how large herbivores influence cyclic small-mammal populations is essential for predicting community dynamics in grazed ecosystems. Using a 23-year upland grazing experiment in Scotland, United Kingdom, we test how varying livestock grazing pressures affect population cycles of the short-tailed field vole Microtus agrestis, a keystone herbivore and prey species of birds of conservation concern. We combined long-term vole sign indices (VSI), vegetation surveys, climate data and used wavelet analyses and mixed-effects models to quantify changes in VSI (a proxy for abundance), cycle amplitude and periodicity across four grazing treatments and three spatial blocks. Vole abundance and cycle amplitude declined with increasing grazing pressure, yet the frequency of vole population oscillations remained strikingly consistent across all treatments, with a dominant ~3.5-year cycle persisting throughout most of the study. Ungrazed plots supported the highest mean VSI and the largest amplitude oscillations. We found a pronounced, spatially-restricted cycle collapse occurred between 2009-2016 in one experimental block. This breakdown coincided with unusually cold winters and lower vegetation density, suggesting that local microclimate and habitat structure interact to destabilise vole cycles. Vegetation density (but not height) predicted VSI in the more intensively grazed treatments, indicating that grazing-driven changes in habitat structure indirectly mediate vole dynamics. Our findings demonstrate that large herbivores can substantially modify vole population dynamics through both direct and indirect pathways, altering cycle amplitude, habitat suitability and resilience to climatic perturbations. These results highlight the need to consider interactions between grazing, vegetation structure and climate variability when predicting small-mammal population dynamics and their cascading ecological effects.

ecology↗

Gene dosage effects of 22q11.2 copy number variants on in-vivo measures of white matter axonal density and dispersion

22q11.2 deletion (22qDel) and duplication (22qDup) carriers have an increased risk of neurodevelopmental disorders and exhibit altered brain structure, including white matter microstructure. However, the underlying cellular architecture and age-related changes contributing to these white matter alterations remain poorly understood. Neurite orientation dispersion and density imaging (NODDI) was used on mixed cross-sectional and longitudinal data to examine group differences and age-related trajectories in measures of axonal density (i.e., intracellular volume fraction; ICVF), axonal orientation (orientation dispersion index; ODI) and free water diffusion (isotropic volume fraction; ISO) in 50 22qDel (n scans = 69, mean age = 20.7, age range = 7.4-51.1, 64.0% female) and 24 22qDup (n scans = 34, mean age = 21.6, age range = 8.3-49.4, 54.2% female) carriers, and 890 controls (n scans = 901, mean age = 21.9, age range = 7.8-51.1, 54.5% female). The results showed widespread gene dosage effects, with higher ICVF in 22qDel and lower ICVF in 22qDup compared to controls, and region-specific effects of the 22qDel and 22qDup on ODI and ISO measures. However, 22qDel and 22qDup carriers did not exhibit altered age-related trajectories relative to controls. Observed differences in ICVF suggest higher white matter axonal density in 22qDel and lower axonal density in 22qDup compared to controls. Conversely, differences in ODI are highly localized, indicating region-specific effects on axonal dispersion in white matter. We do not find evidence for altered developmental trajectories of axonal density or dispersion among 22q11.2 CNV carriers, suggesting stable disruptions to neurodevelopmental events before childhood.

neuroscience↗

FEMA-Long: Modeling unstructured covariances for discovery of time-dependent effects in large-scale longitudinal datasets

While linear mixed-effects (LME) models are common for analyzing longitudinal data, most users rely on random intercepts or simple stationary covariance, due to unavailability of computationally tractable solutions. Here, we extend the Fast and Efficient Mixed-Effects Algorithm (FEMA) and present FEMA-Long, a computationally tractable approach to flexibly modeling longitudinal covariance suitable for high-dimensional data. FEMA-Long can: i) model unstructured covariance, ii) model covariates as smooth functions using splines, iii) discover time-dependent effects of covariates with spline interactions, and iv) use these flexible longitudinal modeling strategies to perform longitudinal genome-wide association studies and discover time-dependent genetic effects, in a computationally scalable manner, suitable for high-dimensional data. Through extensive simulations, we show that estimates from FEMA-Long are accurate, while being up to several thousand times faster and with minimal carbon footprint. To show the utility of FEMA-Long for discovering novel biological signal, using data from the Norwegian Mother, Father and Child Cohort Study (MoBa), we performed a longitudinal genome-wide association study with non-linear SNP-by-time interaction on length, weight, and BMI of 68,273 infants with up to six measurements in the first year of life. We found dynamic patterns of random effects including time-varying heritability and genetic correlations, as well as several genetic variants showing time-dependent effects, highlighting the applicability of FEMA-Long to enable novel discoveries. FEMA-Long is available at: https://github.com/cmig-research-group/cmig_tools. Author summaryMost large-scale datasets have complexities such as repeated measures, related individuals, or other dependencies across samples, preventing the use of standard regression approaches for analysis. In such circumstances, linear mixed-effects modeling is often employed. However, for high-dimensional datasets, fitting these models is quite challenging. Further, most standard uses of linear mixed-effects modeling focus on simpler covariance models, which may not hold. Here, we introduce FEMA-Long, a novel computationally efficient analytical framework for fitting linear mixed-effects models with time-varying random effects, as well as allowing the effect of the covariates to change smoothly over time by using splines. This is particularly relevant when, for example, studying the effect of genetic variants on phenotypes, where the effects could be non-linear over time. The FEMA-Long framework allows time-varying heritability as well as discovery of genetic variants that show time-dependent effects. By performing a genome-wide association study on data from the Norwegian Mother, Father and Child Cohort Study (MoBa) using FEMA-Long, we show the discovery of genetic variants with time-dependent effects on infant length, weight, and BMI during the first year of life. Our results highlight the potential of using FEMA-Long to make novel discoveries that can lead to biological insights on the genetics of complex traits as well as improve the potential of using genetics for personalized prediction.

genetics↗

Aerobic exercise promotes PDAC vascular normalization through S1PR1 signaling in tumor endothelial cells

Pancreatic Ductal Adenocarcinoma (PDAC) is characterized by high resistance to anti-cancer therapies. This resistance is caused in part by hypo-vascularization and dysfunctional vessels which inefficiently deliver chemotherapy. Here, we define the mechanism of aerobic exercise-induced tumor vascular remodeling and improved chemotherapy delivery and efficacy. We found that aerobic exercise was able to improve tumor vascular function and increase the number of lymphatic vessels, and these effects were associated with increased gemcitabine delivery to and efficacy against PDAC in mice. Further, exercise increased sphingosine-1-phosphate (S1P) in plasma and the activation of sphingosine-1-phosphate receptor 1 (S1PR1) in tumor endothelial cells. S1PR1 endothelial cell-specific deletion blunted the exercise-induced improvements in tumor vascular function, gemcitabine efficacy and drug concentration. Preclinical findings were validated in a patient cohort in which we found that exercise during neoadjuvant chemotherapy remodeled PDAC vasculature and improved tumor vascular function. These findings provide direct evidence that exercise increases chemotherapy delivery and efficacy by improving vascular function, defining S1PR1 as a necessary mediator of exercise-induced vascular remodeling.

cancer biology↗

Abundant pleiotropy across neuroimaging modalities identified through a multivariate genome-wide association study

Genetic pleiotropy is abundant across spatially distributed brain characteristics derived from one neuroimaging modality (e.g. structural, functional or diffusion MRI). A better understanding of pleiotropy across modalities could inform us on the integration of brain function, micro- and macrostructure. Here we show extensive genetic overlap across neuroimaging modalities at a locus and gene level in the UK Biobank (N=34,029) and ABCD Study (N=8,607). When jointly analysing phenotypes derived from structural, functional and diffusion MRI with the Multivariate Omnibus Statistical Test (MOSTest), we boost the discovery of loci and genes beyond previously identified effects for each modality individually. Cross-modality genes are involved in fundamental biological processes and predominantly expressed during prenatal brain development. We additionally boost prediction of psychiatric disorders by conditioning independent GWAS on our multimodal multivariate GWAS. These findings shed light on the shared genetic mechanisms underlying variation in brain morphology, functional connectivity, and tissue composition. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=192 SRC="FIGDIR/small/521181v3_ufig1.gif" ALT="Figure 1"> View larger version (65K): org.highwire.dtl.DTLVardef@1e7eadcorg.highwire.dtl.DTLVardef@ec127eorg.highwire.dtl.DTLVardef@b21f14org.highwire.dtl.DTLVardef@1690c5_HPS_FORMAT_FIGEXP M_FIG C_FIG

genetics↗

Efficient meta-analysis of multivariate genome-wide association studies with Meta-MOSTest

MotivationGenome-wide association studies (GWAS) have been successful in identifying genetic variants associated with a particular phenotype. However, many complex phenotypes are influenced by multiple genetic variants with small effects. Detecting the genetic pleiotropy can provide insights into biological mechanisms influencing complex human phenotypes. The recently developed Multivariate Omnibus Statistical Test (MOSTest) has proven to be efficient and powerful, suited for complex large-scale data. The method substantially increased discovery of genetic variants associated with brain MRI phenotypes in the UK Biobank compared to conventionally use multivariate approach. Here we extend the MOSTest to meta-analysis (Meta-MOSTest), facilitating data analysis of multiple phenotypes across multiple cohorts. We evaluated our updated approach in the UK Biobank using brain MRI phenotypes, by comparing the discovery yield of the single-cohort MOSTest versus Meta-MOSTest through simulating sub-cohorts of different sample sizes from 265 to 26501 subjects. ResultsOur method works efficiently on large-scale cohorts with a large number of MRI phenotypes. We found that lower per-cohort sample sizes resulted in a reduced discovery yield indicating a loss of statistical power. However, with a minimum sample size of 250 subjects across cohorts, Meta-MOSTest was equivalent to MOSTest on discovery yield while maintaining a well-calibrated type I error and equivalent statistical power. We conclude that Meta-MOSTest is a useful tool for multivariate analysis across separate brain imaging genetics cohorts. Availability and implementationAll codes are freely available on GitHub: MOSTest and Meta-MOSTest.

bioinformatics↗

Multivariate genetic analysis of personality and cognitive traits reveals abundant pleiotropy and improves prediction

Personality and cognition are heritable mental traits, and their genetic determinants may be distributed across interconnected brain functions. However, previous studies have employed univariate approaches which reduce complex traits to summary measures. We applied the "pleiotropy-informed" multivariate omnibus statistical test (MOSTest) to genome-wide association studies (GWAS) of 35 item and task-level measures of neuroticism and cognition from the UK Biobank (n=336,993). We identified 431 significant genetic loci and found evidence of abundant pleiotropy across personality and cognitive domains. Functional characterisation implicated genes with significant tissue-specific expression in all tested brain tissues and enriched in brain-specific gene-sets. We conditioned independent GWAS of the Big 5 personality traits and cognition on our multivariate findings, which boosted genetic discovery in other personality traits and improved polygenic prediction. These findings advance our understanding of the polygenic architecture of complex mental traits, indicating a prominence of pleiotropic genetic effects across higher-order domains of mental function. Graphical abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=200 SRC="FIGDIR/small/481967v2_ufig1.gif" ALT="Figure 1"> View larger version (89K): org.highwire.dtl.DTLVardef@1641108org.highwire.dtl.DTLVardef@9a24eeorg.highwire.dtl.DTLVardef@1eeae99org.highwire.dtl.DTLVardef@108db7f_HPS_FORMAT_FIGEXP M_FIG C_FIG

genetics↗

Cellular correlates of cortical thinning throughout the lifespan

Cortical thinning occurs throughout the entire life and extends to late-life neurodegeneration, yet the neurobiological substrates are poorly understood. Here, we used a virtual-histology technique and gene expression data from the Allen Human Brain Atlas to compare the regional profiles of longitudinal cortical thinning through life (4004 MRIs) with those of gene expression for several neuronal and non-neuronal cell types. The results were replicated in three independent longitudinal datasets. We found that inter-regional profiles of cortical thinning related to expression profiles for marker genes of CA1 pyramidal cells, astrocytes and microglia during development and in aging. During the two stages of life, the relationships went in opposite directions: greater gene expression related to less thinning in development and vice versa in aging. The association between cortical thinning and cell-specific gene expression was also present in mild cognitive impairment and Alzheimers Disease. These findings suggest a role of astrocytes and microglia in promoting and supporting neuronal growth and dendritic structures through life that affects cortical thickness during development, aging, and neurodegeneration. Overall, the findings contribute to our understanding of the neurobiology underlying variations in MRI-derived estimates of cortical thinning through life and late-life disease.

neuroscience↗

Effect modification of FADS2 polymorphisms on the association between breastfeeding and intelligence: results from a collaborative meta-analysis

BackgroundAccumulating evidence suggests that breastfeeding benefits the childrens intelligence. Long-chain polyunsaturated fatty acids (LC-PUFAs) present in breast milk may explain part of this association. Under a nutritional adequacy hypothesis, an interaction between breastfeeding and genetic variants associated with endogenous LC-PUFAs synthesis might be expected. However, the literature on this topic is controversial.\n\nMethods and FindingsWe investigated this GenexEnvironment interaction in a de novo meta-analysis involving >12,000 individuals in the primary analysis, and >45,000 individuals in a secondary analysis using relaxed inclusion criteria. Our primary analysis used ever breastfeeding, FADS2 polymorphisms rs174575 and rs1535 coded assuming a recessive effect of the G allele, and intelligence quotient (IQ) in Z scores. Using random effects meta-analysis, ever breastfeeding was associated with 0.17 (95% CI: 0.03; 0.32) higher Z scores in IQ, or about 2.1 points. There was no strong evidence of interaction, with pooled covariate-adjusted interaction coefficients (i.e., difference between genetic groups of the difference in IQZ scores comparing ever with never breastfed individuals) of 0.12 (95% CI: -0.19; 0.43) and 0.06 (95% CI: -0.16; 0.27) for the rs174575 and rs1535 variants, respectively. Secondary analyses corroborated these results. In studies with >5.85 and <5.85 months of breastfeeding duration, pooled estimates for the rs174575 variant were 0.50 (95% CI: -0.06; 1.06) and 0.14 (95% CI: -0.10; 0.38), respectively, and 0.27 (95% CI: -0.28; 0.82) and -0.01 (95% CI: -0.19; 0.16) for the rs1535 variant. However, between-group comparisons were underpowered.\n\nConclusionsOur findings do not support an interaction between ever breastfeeding and FADS2 polymorphisms. However, our subgroup analysis raises the possibility that breastfeeding supplies LC-PUFAs requirements for cognitive development (if such threshold exists) if it lasts for some (currently unknown) time. Future studies in large individual-level datasets would allow properly powered subgroup analyses and would improve our understanding on the role of breastfeeding duration in the breastfeedingxFADS2 interaction.

epidemiology↗

Combined social and spatial coding in a descending projection from the prefrontal cortex

Social interactions are crucial to the survival and well-being of all mammals, including humans. Although the prelimbic cortex (PL, part of medial prefrontal cortex) has been implicated in social behavior, it is not clear which neurons are relevant, nor how they contribute. We found that the PL contains anatomically and molecularly distinct subpopulations of neurons that target 3 downstream regions that have been implicated in social behavior: the nucleus accumbens (NAc), the amygdala, and the ventral tegmental area. Activation of NAc-projecting PL neurons (PL-NAc), but not the other subpopulations, decreased preference for a social target, suggesting an unique contribution of this population to social behavior. To determine what information PL-NAc neurons convey, we recorded selectively from them, and found that individual neurons were active during social investigation, but only in specific spatial locations. Spatially-specific inhibition of these neurons prevented the formation of a social-spatial association at the inhibited location. In contrast, spatially nonspecific inhibition did not affect social behavior. Thus, the unexpected combination of social and spatial information within the PL-NAc population appears to support socially motivated behavior by enabling the formation of social-spatial associations.

neuroscience↗