Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies.
Background: The Borderline Symptom List (BSL-23) is a well-established self-rating instrument to assess the severity of borderline typical psychopathology. However, a classification of severity levels for the BSL-23 is missing. Methods: Data from 1.090 adults were used to develop a severity classification for the Borderline Symptom List (BSL-23). The severity grading was based on the distribution of the BSL-23 in 241 individuals with a diagnosis of BPD. Data from three independent samples were used to validate the previously defined severity grades. These validation samples included a group of treatment seeking patients with a diagnosis of BPD (n = 317), a sample of individuals with mental illnesses other than BPD (n = 176), and a healthy control sample (n = 356). The severity grades were validated from comparisons with established assessment instruments such as the International Personality Disorders Examination, the Structured Clinical Interview for DSM-IV, the global severity index of the Symptom Checklist (GSI, SCL-90), the Global Assessment of Functioning (GAF), and the Beck Depression Inventory (BDI-II). Results: Six grades of symptom severity were defined for the BSL-23 mean score: none or low: 0-0.3; mild: 0.3-0.7; moderate: 0.7-1.7; high: 1.7-2.7; very high: 2.7-3.5; and extremely high: 3.5-4. These grades received consistent empirical support from the independent instruments and samples. For instance, individuals with a severity grade of none or low were virtually free from diagnostic BPD-criteria, had a GSI below the normative population, and a high level of global functioning corresponding to few or no symptoms. Severity grades indicating high to extremely high levels of BPD symptoms were observed at a much higher rate in treatment-seeking patients (70.0%) than in clinical controls (17.6%) and healthy controls (0.0%). The BSL-23 score that best separated treatment-seeking BPD patients and clinical controls was 1.50, whereas the clearest discrimination of BPD patients and healthy controls was found at a score of 0.64. Conclusions: The grades of BPD-specific symptom severity derived from the distribution of the BSL-23 scores received consistent empirical validation from established assessments for psychopathology. Future studies should expand this validation by including additional instruments e.g., to assess self-esteem, loneliness, connectedness, and quality of life.
The brief version of the Borderline Symptom List (BSL-23) is a self-rated scale developed from the initial 95-item version of Borderline Symptom List (BSL-95). The current study aimed to evaluate the psychometric properties of the Chinese version of the BSL-23. A total of 570 undergraduate students and 323 clinical patients completed the BSL-23, the borderline subscale of the Personality Diagnostic Questionnaire (PDQ-4+), the Center for Epidemiologic Studies Depression Scale (CES-D), the Barratt Impulsiveness Scale, 11th version (BIS-11), the Childhood Trauma Questionnaire (CTQ) and the Attachment Style Questionnaire (ASQ). A Confirmatory Factor Analysis (CFA) was conducted to test the one-factor structure of the BSL-23. Cronbach’s alpha, Omega coefficient, Split-Half coefficient, Mean Inter-Item Correlation (MIC) and test-retest reliability were also measured. The correlations between the BSL-23 and other psychological variables were used to assess criterion-related validity and convergent validity. Participants who scored ≥ 5 on the borderline subscale of the PDQ-4+ were placed into the borderline personality disorder (BPD) screening-positive group, while the others were placed into the screening-negative group. Independent sample t-tests were performed to examine the differences in BSL-23 scores between the BPD screening-positive group and the BPD screening-negative group. The CFA results supported the one-factor structure of the BSL-23 in both samples. The internal consistency was high both in the undergraduate sample (Cronbach’s α = 0.93, Omega = 0.95, Split-Half coefficient = 0.89, MIC = 0.38) and the clinical sample (Cronbach’s α = 0.97, Omega = 0.97, Split-Half coefficient = 0.96, MIC = 0.56). The test-retest reliability within 2 weeks was 0.62. The BSL-23 displayed moderate to high correlations with the PDQ-4+-Borderline subscale, the CES-D, the BIS-11, the CTQ and the ASQ (r = 0.35 – 0.70). In addition, the BSL-23 discriminated between the BPD screening-positive and the BPD screening-negative participants, and also between the patient sample and undergraduate sample. In conclusion, the Chinese version of the BSL-23 has satisfactory psychometric properties to assess BPD symptoms.
Background The secondary use of clinical data in data-gathering, non-interventional research or learning activities (SeConts) has great potential for scientific progress and health care improvement. At the same time, it poses relevant risks for the privacy and informational self-determination of patients whose data are used. Objective Since the current literature lacks a tailored framework for risk assessment in SeConts as well as a clarification of the concept and practical scope of SeConts, we aim to fill this gap. Methods In this study, we analyze each element of the concept of SeConts to provide a synthetic definition, investigate the practical relevance and scope of SeConts through a literature review, and operationalize the widespread definition of risk (as a harmful event of a certain magnitude that occurs with a certain probability) to conduct a tailored analysis of privacy risk factors typically implied in SeConts. Results We offer a conceptual clarification and definition of SeConts and provide a list of types of research and learning activities that can be subsumed under the definition of SeConts. We also offer a proposal for the classification of SeConts types into the categories non-interventional (observational) clinical research, quality control and improvement, or public health research. In addition, we provide a list of risk factors that determine the probability or magnitude of harm implied in SeConts. The risk factors provide a framework for assessing the privacy-related risks for patients implied in SeConts. We illustrate the use of risk assessment by applying it to a concrete example. Conclusions In the future, research ethics committees and data use and access committees will be able to rely on and apply the framework offered here when reviewing projects of secondary use of clinical data for learning and research purposes.
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ObjectivePatients with borderline personality disorder (BPD) use nonsuicidal self‐injury (NSSI) to cope with states of elevated inner tension. It is unclear to what extent remitted BPD patients experience these states and whether the experience of pain still regulates emotion. The purpose of this study was the investigation of baseline stress levels, stress reactivity, and pain‐mediated stress regulation in remitted BPD patients.MethodSubjective and objective stress parameters were assessed in 30 remitted BPD patients, 30 current BPD patients, and 30 healthy controls. After stress induction, a non‐nociceptive tactile stimulus, a tissue‐injuring, or a noninvasive pain stimulus was applied to the right volar forearm.ResultsBaseline stress levels of remitted BPD patients lie in between the stress levels of current BPD patients and healthy controls. Urge for NSSI increased significantly more in current than remitted BPD patients. The experience of pain led to a greater decrease of arousal in current compared to remitted BPD patients and healthy controls.ConclusionsStates of increased tension still seem to appear in remitted BPD patients. The role of pain‐mediated stress regulation appears to be reduced in remitted patients.
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