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Results for “causality”

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PubMed2026

Identifying causal genetic variants for high-altitude adaptation through blood eQTL analysis in plateau populations.

A substantial number of genetic variants have been associated with high-altitude adaptation (HAA), yet most of them are located in non-coding genomic regions, leaving their specific functions and underlying mechanisms largely unknown. In this study, we analyze whole-genome and transcriptome sequencing data from a self-established cohort comprising 61 native highlanders (NHs) and 164 acclimatized newcomers (ANs), identifying 6,586 cis- and 34,203 trans-expression quantitative trait loci (eQTLs), along with 130 cell type-specific eQTLs. By further combining these data with a large East Asia (~30% Tibetan) genome-wide association study (GWAS) cohort, we employ colocalization and causal inference analyses to prioritize 85 cis-eQTLs associated with HAA and identify several novel candidate causal genes, including EXOC8, which is experimentally confirmed to regulate erythroid differentiation. Additionally, network analysis of these causal genes uncovers multiple regulatory pathways, mainly involving energy metabolism, autophagy, ubiquitination and inflammation. Our study offers a comprehensive eQTL map and reveals causal chains of "variant-gene-phenotype" for HAA-related traits, which provides new insights into potential regulatory mechanisms and targets for prevention and treatment of altitude sickness.

Quantitative Trait Loci↗

PubMed2001

Causal explanations, concern and optimism regarding self-injurious behaviour displayed by individuals with Cornelia de Lange syndrome: the parents' perspective.

Research into behaviours associated with specific syndromes, such as Cornelia de Lange syndrome (CdLS), has neglected to explore the parents' perspective, particularly the potential impact of the notion of behavioural phenotypes on parents' causal explanations. Given the research focus on self-injurious behaviour (SIB) in CdLS, the present study examined parental concern across four topographies of challenging behaviour, causal explanations for these behaviours and optimism for change. As part of a larger study, a questionnaire survey of 86 parents of children and adults with CdLS was conducted. Quantitative data on parental concern and optimism with regard to behaviour problems were collected. Causal explanations for behaviour problems were examined by subjecting open-ended responses to a content analysis. Parents were as concerned about physical aggression and disruptive behaviours as they were about SIB. The majority of parents had deconstructed how CdLS might be associated with SIB in terms of other factors associated with CdLS, such as degree of intellectual disability. Parents did not believe that CdLS influenced SIB more than other challenging behaviours and their beliefs did not effect optimism regarding future change in the behaviour. Despite the focus of research on SIB in CdLS, parents of children and adults with CdLS are also concerned about other challenging behaviours. There was no evidence that a deterministic perspective had been adopted by parents and causal explanations were unrelated to optimism for future change.

Adolescent↗

PubMed2003

Determinants of negative emotional reactions and causal beliefs about self-injurious behaviour: an experimental study.

BACKGROUND: Caregivers' emotional and cognitive reactions to challenging behaviours have been identified as potential determinants of their reinforcing responses towards such behaviours. However, few studies have explored factors affecting caregivers' emotional and cognitive responses to challenging behaviours. METHODS: Sixty students inexperienced in work with people with challenging behaviours and 60 experienced staff watched one of two carefully matched, acted videotapes depicting self-injury maintained by attention or escape-from-task demands. The participants were also told whether the self-injury depicted typically led to mild or severe consequences for the person filmed. The subjects completed measures of their negative emotional reactions to the self-injury and their behavioural causal beliefs about the behaviour depicted. RESULTS: Analyses of variance revealed that students reported more negative emotional reactions and were less likely to endorse behavioural causal hypotheses. Those who watched the severe self-injury videotape also reported more negative emotional reactions. Two effects of the behavioural function of the depicted self-injury were also found: (1) attention-maintained self-injury was associated with higher levels of endorsement of behavioural causal hypotheses; and (2) severe attention-maintained self-injury led to the strongest negative emotional reactions, but only from students. CONCLUSIONS: The effects of experience and behavioural function on emotional reactions and behavioural causal beliefs need to be explored in more detail in future research. If replicated, the present results have significant implications for theory and practice in the remediation of challenging behaviours and the support of care staff.

Adolescent↗

PubMed2002

A psychophysiological causal model of pain report validity.

The validity of the pain report is vitally important but difficult to assess because pain is a personal experience. Human laboratory research affords an opportunity to investigate validity because one can measure the consistency and sensitivity of pain ratings produced in response to known stimuli. This article presents 2 levels of evidence characterizing the validity of the pain report measure. The within-subject agreement of pain report with known stimulus variation quantifies the criterion validity, or accuracy, of the measure. Causal modeling defines a second, between-subject, level of construct validity by suggesting a psychophysiological mechanism determining the observed individual variation in accuracy. We analyzed pain rating data obtained in a laboratory study where 100 subjects (56 men and 44 women) experienced varied levels of painful fingertip electrical stimulation, delivered in random order across 144 trials. Unknown to the subjects, there were only 3 stimulus intensities. Accuracy, defined operationally as the proportion of variance in pain report explained by stimulus level, ranged from 0.07 to 0.91 with a median of 0.64. Hypothesized determinants of accuracy comprised current intensity, event-related late near field evoked potentials, skin conductance response, heart rate, and pupil diameter change. We limited the evoked potential measures to the amplitude of the negative peak at 150 msec (N150amp) and combined the latter 3 measures to form a single index of overall sympathetic nervous system arousal (Arousal). Although men chose higher stimulus levels for the experiment and had higher Arousal than did women, their mean pain reports and their Accuracy did not differ from those of female subjects. We constructed a sequence of path analysis models designed to clarify the causal contributions of current intensity, N150amp, and Arousal, and to determine whether these relationships differ in men and women. The final model revealed a direct causal chain. Stimulus current determined the amplitude of N150amp (possibly an indicator of attention). N150amp in turn determined Arousal, and Arousal emerged as the sole determinant of the Accuracy of the pain report. In addition, this latter effect differed across the sexes. Men who experienced higher levels of Arousal gave more accurate pain reports than those who had lower levels, but women who had higher levels of Arousal gave less accurate pain reports than those with lower levels. Thus construct validation emerged, not from direct stimulus-response correlation, but from the elucidation of a causal chain that related stimulus to response.

Journal Article↗

PubMed2001

[Causal beliefs of schizophrenic patients].

RESEARCH QUESTION: Aim of the study is to investigate whether the preference of schizophrenic patients for psychosocial causal explanations found in a previous study carried out in Hamburg can be observed elsewhere. Further aim of the study was to find out how stable patients' causal attributions are over time. Finally, we were interested to know to what degree patients' beliefs reflect those held by the general public. METHOD: Using an inventory comprising 15 items, we inquired about 105 schizophrenic patient's aetiological ideas at the time of discharge from hospital from inpatient or daycare treatment at 4 psychiatric hospitals in Germany. Follow-ups were carried out 3 months and 6 months later. RESULTS: Psychosocial factors, especially psychosocial stress, were most frequently held responsible for the onset of the illness. The possibility that biological factors might play a role in the causation of schizophrenia was considered more rarely by the patients. There were practically no regional variations as concerns aetiological beliefs. The tendency to endorse psychosocial stress factors was more pronounced among patients as compared with the general public. In total the causal beliefs proved to be quite stable over a time period of 6 months. DISCUSSION: Patients' causal beliefs are compared with findings of psychiatric research, and possible ways to bridge the gap between the two are discussed.

Adult↗

PubMed2002

Temporal and causal order effects in thinking about what might have been.

When people think counterfactually about what might have been different for a sequence of events, they are influenced by the order in which the events occurred. They tend to mentally undo the most recent event in a temporal sequence of two events. But they tend to mentally undo the first event in a causal sequence of four events. We report the results of two experiments that show that the temporal and causal order effects are not dependent on the number of events in the sequence. Our first experiment, with 300 participants, shows that the temporal order effect occurs for sequences with four events as well as for sequences with two events. Our second experiment, with 372 participants, shows that the causal order effect occurs for sequences with two events as well as for sequences with four events. We discuss the results in terms of the mental representations that people construct of temporal and causal sequences.

Humans↗

PubMed2003

Causal judgment as evaluation of evidence: the use of confirmation and disconfirmatory information.

There are four kinds of contingency information: occurrences and nonoccurrences of an effect in the presence and absence ofa cause. In two experiments participants made judgements about sets of stimulus materials in which one of these four kinds had zero frequency. The experiments tested two kinds of predictions derived from the evidential evaluation model of causal judgement, which postulates that causal judgement depends on the proportion of instances evaluated as confirmatory for the cause being judged. The model predicts significant effects of manipulating the frequency of one kind of contingency information in the absence of changes in the objective contingency. The model also predicts that extra weight will be given to one kind of confirmatory information when the other kind has zero frequency, and to one kind of disconfirmatory information when the other kind has zero frequency. Results supported both sets of predictions, and also disconfirmed predictions of the power probabilistic contrast theory of causal judgement. This research therefore favours an account of causal judgement in which contingency information is transformed into evidence, and judgement is based on the n et confirmatory or disconfirmatoryvalue of the evidence.

Analysis of Variance↗

PubMed2005

Causal and noncausal conditionals: an integrated model of interpretation and reasoning.

We present an integrated model for the understanding of and the reasoning from conditional statements. Central assumptions from several approaches are integrated into a causal path model. According to the model, the cognitive availability of exceptions to a conditional reduces the subjective conditional probability of the consequent, given the antecedent. This conditional probability determines people's degree of belief in the conditional, which in turn affects their willingness to accept logically valid inferences. In addition to this indirect pathway, the model contains a direct pathway: Availability of exceptional situations directly reduces the endorsement of valid inferences. We tested the integrated model with three experiments using conditional statements embedded in pseudonaturalistic cover stories. An explicitly mentioned causal link between antecedent and consequent was either present (causal conditionals) or absent (arbitrary conditionals). The model was supported for the causal but not for the arbitrary conditional statements.

Adult↗

PubMed2004

Abolishing the effect of reinforcement delay on human causal learning.

Associative learning theory postulates two main determinants for human causal learning: contingency and contiguity. In line with such an account, participants in Shanks, Pearson, and Dickinson (1989) failed to discover causal relations involving delays of more than two seconds. More recent research has shown that the impact of contiguity and delay is mediated by prior knowledge about the timeframe of the causal relation in question. Buehner and May (2002, 2003) demonstrated that the detrimental effect of delay can be significantly reduced if reasoners are aware of potential delays. Here we demonstrate for the first time that the negative influence of delay can be abolished completely by a subtle change in the experimental instructions. Temporal contiguity is thus not essential for human causal learning.

Adult↗

PubMed2003

Reasoning about physical causality and other's intentions in schizophrenia.

INTRODUCTION: Several studies have shown that schizophrenic patients have impaired theory-of-mind skills involving the attribution of false beliefs and intentions to others. Despite the methodological difficulties of false belief protocols, experiments have concluded that the deficit is specific and cannot be explained in terms of a general cognitive impairment. The situation, however, remains unclear as far as the attribution of intentions to others is concerned. We propose the use of nonverbal control tasks based on physical causality to demonstrate the specificity of the impairment of attribution of intentions. METHODS: We compared the performances of schizophrenic patients and normal subjects on the attribution of intentions and on two control tasks involving physical causality (reasoning about the weight, location, speed, and the physical properties of objects). 25 schizophrenic patients and 25 healthy subjects participated in the study. Each subject was assessed under three conditions using comic strips: attribution of intentions, physical causality with characters, physical causality without characters. RESULTS: The performances of schizophrenic patients differed significantly from those of healthy subjects only in the attribution of intentions condition. This difference was also found when only subjects having optimal performances in physical logic were considered and when verbal IQ was considered as a co-variable. CONCLUSIONS: Nonverbal attribution of intentions to others is specifically impaired in schizophrenia. This conclusion is in agreement with recent neuroimaging findings.

Journal Article↗

PubMed2006

How long does it take to find a cause? An online investigation of implicit causality in sentence production.

Some interpersonal verbs show an implicit causality bias in favour of their subject or their object. Such a bias is generally seen in offline continuation tasks where participants are required to finish a fragment containing the verb (e.g., Peter annoyed Jane because ...). The implicit causality bias has been ascribed to the subject's focusing on the initiator of the event denoted by the verb. According to this "focusing theory" the implicit cause has a higher level of activation, at least after the connective "because" has been read. Recently, the focusing theory has been criticized by researchers who used a probe recognition or reading-time methodology. However no clear alternative has been proposed to explain the offline continuation data. In this paper, we report three experiments using an online continuation task, which showed that subjects took more time to imagine an ending when the fragment to be completed contained an anaphor that was incongruent with the verbal bias (e.g., Peter annoyed Jane because she ...). This result suggests that the offline continuation data could reflect the cognitive effort associated with finding a predicate with an agent incongruent with the implicit causality bias of a verb. In the discussion, we suggest that this effort could be related to the number of constraints that an incongruent clause must satisfy to be consistent with the causal structure of the discourse.

Adult↗

PubMed2005

A causal modelling approach to the development of theory-based behaviour change programmes for trial evaluation.

Theory-based intervention programmes to support health-related behaviour change aim to increase health impact and improve understanding of mechanisms of behaviour change. However, the science of intervention development remains at an early stage. We present a causal modelling approach to developing complex interventions for evaluation in randomized trials. In this approach a generic model links behavioural determinants, causally through behaviour, to physiological and biochemical variables, and health outcomes. It is tailored to context, target population, behaviours and health outcomes. The development of a specific causal model based on theory and evidence is illustrated by the ProActive programme, supporting increased physical activity among individuals at risk of Type 2 diabetes. The model provides a rational guide to appropriate measures, intervention points and intervention techniques, and can be tested quantitatively. Causal modelling is critically compared to other approaches to intervention development and evaluation, and research directions are indicated.

Behavioral Research↗

PubMed1999

Effects of the label "schizophrenia" on causal attributions of violence.

We investigated the relation between the label of "schizophrenia" and causal attributions of violence. Undergraduates read 1 of 10 scenarios in which two variables were manipulated: a psychiatric label and environmental stress. The scenario described an employee who acted violently toward his boss. Subjects made causal attributions for the employee's behavior by completing an adapted version of the Causal Dimension Scale II. Subjects also completed a questionnaire designed to explore several issues concerning the effects of the schizophrenia label on perceptions of behavior. Contrary to the primary hypothesis, the schizophrenia label did not lead subjects to make significantly more personality causal attributions for violent behavior. With increasing environmental stress, subjects did make significantly fewer personality attributions. A follow-up study using practicing clinicians as subjects yielded similar findings. The results of these studies are discussed in light of perceived stereotypes of persons with schizophrenia and conceptual issues in attribution research.

Adult↗

PubMed2003

The causal attribution of injury to alcohol consumption: a cross-national meta-analysis from the emergency room collaborative alcohol analysis project.

BACKGROUND: Whereas a substantial literature exists documenting the association of alcohol and injuries, causal associations are less well established. METHODS: The relationship of drinking-in-the-event variables with attributing a causal association of alcohol consumption and the injury event was examined by using meta-analysis across 13 emergency room studies from 8 countries included in the Emergency Room Collaborative Alcohol Analysis Project. RESULTS: Pooled odds ratios for both log-transformed blood alcohol concentration at the time of the emergency room visit and the amount of alcohol consumed in the 6 hr before injury were positively predictive (1.19 and 1.80, respectively) and heterogeneous across studies. Effect size changed little when age and gender were controlled. When stratifying on reporting five or more drinks on an occasion during the last year (5+ yearly drinkers), the amount consumed was positively predictive of reporting a casual association of drinking and injury only for 5+ yearly drinkers. The effect size of feeling drunk at the time of injury, controlling for the amount of alcohol consumed, was positively predictive (2.04) but heterogeneous across studies. Meta-analysis regression found the level to which alcohol is consumed in a detrimental pattern to be a significant predictor of blood alcohol concentration, and of the amount consumed and feeling drunk at the time of injury, on causal attribution, with a lower detrimental pattern level with a larger effect size. CONCLUSIONS: The association of acute use of alcohol on causal attribution may be affected by chronic use to some extent, but this association is negatively affected by the degree to which a society exhibits harmful drinking patterns.

Accidents↗

PubMed2025

Exploring the causal association between television viewing and meniscal injuries: A two-sample Mendelian randomization analysis.

The aim of this study was to assess whether there is a potential causal relationship between sedentary behavior and meniscal injuries based on the Mendelian randomization (MR) method. This study used a two-sample MR design to integrate pooled data from a large-scale genome-wide association studies (GWAS). Single nucleotide polymorphisms (SNPs) that were significantly associated with sedentary behavior (represented by daily TV-viewing time) and independent of each other were selected as instrumental variables, while focusing on data from populations of European ancestry. To ensure the robustness and reliability of the analyses, 3 mainstream MR analysis methods were combined in this study: inverse variance weighted (IVW), weighted median estimation (WME) and MR-Egger regression. Heterogeneity test, horizontal multivariate analysis, and leave-one-out sensitivity test were also conducted to further validate the stability of causal estimation. The results of the IVW method showed that sedentary behavior was significantly associated with the risk of meniscus injury, with an OR (95% CI) of 2.93 (1.89-4.52), and a P-value of < .001, suggesting that sedentary behavior may be an important risk factor for meniscus injury. No significant bias was found in the heterogeneity test and the assessment of multiple validity, and the sensitivity analysis showed that the effect of individual SNPs on the overall estimation was small, and the results had good robustness. This study provides genetic epidemiological evidence of a positive causal effect of sedentary behavior on meniscal injuries based on a causal inference approach with genetic instrumental variables. The results suggest that reducing sedentary time, especially prolonged TV watching behavior, may reduce the risk of meniscus injury to some extent.

Humans↗

PubMed2025

Genetic predisposition to systemic inflammatory proteins is causally associated with inflammatory bowel disease: Insights from multi-omics association study and single-cell RNA-sequencing analysis.

Systemic inflammatory proteins have been reported to be related to inflammatory bowel disease (IBD) in previous observational research. However, their causal links remain obscure. Herein, we performed a Mendelian randomization (MR) analysis to analyze the causality between systemic inflammatory proteins and IBD. Genetic variants related to systemic inflammatory proteins were extracted from a meta-analysis of genome-wide association study (GWAS) data of 8293 European participants. Summary statistics of IBD diverse subtypes were obtained from the international IBD genetic consortium (IIBDGC). We conducted multi-omics method and MR study to detect the causal links through integrating GWAS and protein quantity trait loci (pQTL) data. Inverse variance weighted (IVW) approach was utilized as the dominated analysis method. Moreover, complementary approaches such as MR-Egger intercept test, Cochran Q test and leave-one-out analysis were utilized to validate pleiotropy and heterogeneity. Finally, single-cell RNA-sequencing analysis was performed to detect the expression of significant genes. For IBD, IVW estimates suggested that genetically predicted IL-10 and IL-13 were suggestively associated with an elevated risk of IBD (IL-10: OR: 1.12, 95% CI: 1.00-1.24, P = .04; IL-13: OR: 1.09, 95% CI: 1.01-1.18, P = .023), while CXCL10 was suggestively linked to a lower risk of IBD (CXCL10: OR: 0.90, 95% CI: 0.82-0.99, P = .037). For Crohn disease (CD), the IVW approach provided evidence to sustain that genetically determined IL-13 and CCL3 had a suggestive association with a higher risk of CD (IL-13: OR: 1.13, 95% CI: 1.02-1.26, P = .023; CCL3: OR: 1.22, 95% CI: 1.03-1.45, P = .018). Sensitivity analysis did not explore any heterogeneity and pleiotropy. Our findings supported the causal relationships between 4 specific inflammatory proteins (IL-10, IL-13, CXCL10, and CCL3) and the risk of IBD and CD, thereby providing promising biomarkers of various subtypes stratification and new insights for the prevention and therapeutic target of IBD.

Humans↗

PubMed2026

Multiple metabolic factors and kidney dysfunction: Causal evidence and translational insights from a mendelian randomization study.

Chronic kidney disease is a major global public health burden. This study investigated the causal effects of systolic blood pressure (SBP), apolipoprotein B (ApoB), and serum urate on renal function and albuminuria, and explored potential mechanistic implications. Two-sample Mendelian randomization (MR) analyses were conducted using large-scale genome-wide association study summary statistics from European populations. Univariable MR estimated total causal effects on estimated glomerular filtration rate (eGFR) and albuminuria. Multivariable MR assessed independent effects of correlated exposures, and 2-step MR evaluated albuminuria as a mediator. Cis-MR analyses were performed to explore target-proximal genetic evidence for lipid-related drug targets. Genetically predicted SBP was causally associated with reduced eGFR, while ApoB was inversely associated with albuminuria risk. serum urate showed no significant causal effects. Multivariable and mediation analyses supported distinct roles of SBP and ApoB, with albuminuria partially mediating the SBP-eGFR association. Cis-MR analyses indicated heterogeneous renal effects of lipid-lowering targets. These findings provide genetic evidence linking SBP to renal dysfunction, suggest that albuminuria may partially mediate the association between SBP and renal function, and highlight the complex renal relevance of lipid-related pathways.

Mendelian Randomization Analysis↗

PubMed2026

Causal relationships between oral-gut microbiome and bone neoplasm-related phenotypes: Insights from bidirectional Mendelian randomization.

The human oral and gut microbiota are the 4 largest microbial communities in the body and play crucial roles in maintaining homeostasis and influencing disease. Observational studies have suggested links between these microbiota and bone neoplasm-related phenotypes, but establishing causality has been challenging due to confounding factors and reverse causality. We conducted a bidirectional, 2-sample Mendelian randomization (MR) study to investigate evidence consistent with a potential causal association between the saliva and gut microbiota and various bone neoplasm-related phenotypes. Genetic instruments for saliva and gut microbiota were sourced from large genome-wide association studies. Inverse variance weighted was the primary MR method, supplemented by 4 other MR techniques. Sensitivity analyses, including MR-Egger regression, were performed to assess pleiotropy and heterogeneity. In the forward MR analysis, Veillonella parvula from the saliva microbiota was associated with a decreased risk of bone and connective tissue neoplasms (β: -0.236, 95% CI: [-0.275, -0.197], P = 8.20E-33). MR analyses identified genetically predicted associations between several microbial taxa and bone neoplasm-related phenotypes. Reverse MR analyses showed that genetic liability to bone neoplasm-related phenotypes was associated with variation in the composition of the oral (e.g., Order Bacteroidales, Rothia mucilaginosa) and gut microbiota (e.g., Class Methanobacteria, Genus Eubacterium oxidoreducens group). Sensitivity analyses confirmed the robustness of these findings, as no statistical evidence of substantial heterogeneity or directional horizontal pleiotropy was detected. This study provides genetic evidence supporting a bidirectional causal relationship between specific saliva and gut microbiota and bone neoplasm-related phenotypes. Our findings identify several microbial taxa as potential candidates for future biomarker development and therapeutic investigation in bone neoplasm-related phenotypes. However, these genetically informed associations require further mechanistic, experimental, and prospective clinical validation before clinical application.

Humans↗