Publications by authors named "Seon Kyeong Jang"
Over three percent of people carry a dominant pathogenic variant, yet only a fraction of carriers develop disease. Disease phenotypes from carriers of variants in the same gene range from mild to severe. Here, we investigate underlying mechanisms for this heterogeneity: variable variant effect sizes, carrier polygenic backgrounds, and modulation of carrier effect by genetic background (marginal epistasis).
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- - Researchers studied the contribution of polygenic scores (PGSs) for substance use (alcohol, cannabis, nicotine) in predicting outcomes beyond just family history of substance use disorders.
- - The study found that while PGSs were generally effective predictors, their predictive power was influenced by demographic factors and genetic effects from parents, indicating less reliability in twin comparisons.
- - The analysis showed that both PGSs and family history impacts on substance use were mediated by behavioral disinhibition observed in preadolescence, suggesting that disinhibition plays a key role in the relationship between genetics and substance use.
Most transcriptome-wide association studies (TWASs) so far focus on European ancestry and lack diversity. To overcome this limitation, we aggregated genome-wide association study (GWAS) summary statistics, whole-genome sequences and expression quantitative trait locus (eQTL) data from diverse ancestries. We developed a new approach, TESLA (multi-ancestry integrative study using an optimal linear combination of association statistics), to integrate an eQTL dataset with a multi-ancestry GWAS.
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- Tobacco and alcohol use contribute significantly to global mortality rates, with heritability playing a key role in these behaviors.
- This study utilized genetic data from a diverse population of 3.4 million individuals, including 21% non-European ancestry, to identify genetic variants linked to tobacco and alcohol use.
- Findings showed that while increased genetic diversity improved the identification of genomic loci, polygenic risk scores were less effective across different ancestries, underscoring the need for larger and more diverse genetic datasets for better predictive outcomes.
Article Synopsis
- Common genetic variants account for less variation in complex traits like tobacco use than previously thought, leading to discussions about "missing heritability."
- A study of over 26,000 individuals of European descent and nearly 12,000 of African descent found that rare genetic variants contribute significantly to the heritability of smoking behaviors.
- The research revealed that rare variants could explain up to 74% of the heritability estimates for smoking traits, which are much higher than those based on common variants alone.
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- Molecular genetic studies have discovered numerous genome-wide association study (GWAS) loci linked to alcohol and nicotine use, allowing researchers to assess relationships between polygenic scores (PGS) and substance use patterns from late childhood to early adulthood.
- The study utilized latent growth curve models to analyze data from the Minnesota Twin Family Study, examining how PGSs for alcohol and nicotine influenced initial usage and change over time, while controlling for demographic factors.
- Results indicated that PGSs were associated with specific substance use trajectories, with significant cross-substance effects observed, highlighting that PGSs can serve as predictors of both alcohol and nicotine consumption behaviors.
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- Observational studies have shown a link between cannabis use and a higher risk of psychosis, raising questions about whether this relationship is causal or influenced by other factors.
- Analyzing data from twin cohorts, the researchers found that while higher cannabis use in adolescence was related to increased Psychoticism in adulthood, there was no clear causal effect when comparing cannabis use between twins.
- The findings suggest that the observed association between cannabis use and psychosis may stem from shared family traits rather than direct effects of cannabis itself, highlighting the need to focus on other factors in addressing psychotic disorders.
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- Substance abuse comorbidity is common among individuals with psychotic disorders and is associated with negative outcomes, highlighting the importance of studying personality traits in this context.
- This study conducted meta-analyses on personality traits to compare individuals with dual diagnosis (comorbid substance use disorder) and those with only psychotic disorders.
- Results indicated significant differences in several personality traits, such as negative urgency, low premeditation, sensation seeking, and unconscientious disinhibition, being more pronounced in the dual diagnosis group than in those with just psychotic disorders.
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- Substance use is common among individuals with psychiatric disorders, and new genetic studies (GWAS) can help understand the factors behind this relationship.
- Researchers analyzed genetic data from both substance use and psychiatric disorders, finding over 340 shared genetic locations that suggest common biological mechanisms involved in both issues.
- The study concludes that the genetic overlap indicates complex interactions in brain function and development, rather than straightforward causes linking substance use and mental health disorders.
Background: Abnormalities in the 40-Hz auditory steady-state response (ASSR) of the gamma range have been reported in schizophrenia (SZ) and are regarded as important pathophysiological features. Many of the previous studies reported diminished gamma oscillations in SZ, although some studies reported increased spontaneous gamma oscillations. Furthermore, brain morphological correlates of the gamma band ASSR deficits have rarely examined.
View Article and Find Full Text PDFTobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders. They are heritable and etiologically related behaviors that have been resistant to gene discovery efforts. In sample sizes up to 1.
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- The Clinical Assessment Interview for Negative Symptoms (CAINS) was validated as the Korean version (CAINS-K) through a multi-center study involving 180 patients with schizophrenia in Korea.
- The study measured various factors including internal consistency (0.92), inter-rater reliability (0.77), and confirmed the original scale's two-factor structure of motivation/pleasure and expression deficits.
- Findings suggest cultural differences in reported pleasure levels between Korean and American patients, while the CAINS-K showed strong correlations with established negative symptom measures and minimal correlations with other psychiatric symptoms.
Even when individuals with schizophrenia have an intact ability to enjoy rewarding moments, the means to assist them to translate rewarding experiences into goal-directed behaviors is unclear. The present study sought to determine whether informationally administered rewards enhance intrinsic motivation to foster goal-directed behaviors in individuals with schizophrenia (SZ) and healthy controls (HCs). Eighty-four participants (SZ=43, HCs=41) were randomly assigned to conditions involving either a performance-contingent reward with an informationally administered reward or a task-contingent reward with no feedback.
View Article and Find Full Text PDFSevere emotional disturbances such as anxiety and depression have been closely related to aberrant attentional processing of emotional stimuli. However, this has been little studied in schizophrenia, which is also characterized by marked emotional impairments such as heightened negative affect and anhedonia. In the current study, we investigated temporal dynamics of motivated attention to emotional stimuli in schizophrenia.
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- The study investigates the reliability and validity of a Korean version of the Motivation and Pleasure Scale-Self-Report (MPSR), which assesses negative symptoms in schizophrenia.
- A total of 139 patients participated, demonstrating that the MPSR has strong internal consistency and significant correlations with related scales like CAINS and SANS.
- The results suggest that the Korean MPSR is an effective self-report tool for evaluating the severity of negative symptoms in individuals with schizophrenia.
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- Acknowledging that negative symptoms in schizophrenia can be broken down into different factors may improve understanding and treatment options for affected individuals.
- The research tested if the negative symptoms factor from the PANSS is better explained by two distinct factors—expressive deficits and experiential deficits—rather than a single overall factor, using confirmatory factor analysis.
- Results showed that the two-factor model better fits the data, with specific relationships between certain negative symptoms indicating potential measurement errors, highlighting the importance of distinguishing between these factors for accurate assessment.
Introduction: This study assessed bias in selective attention to facial emotions in negative symptoms of schizophrenia and its influence on subsequent memory for facial emotions.
Methods: Thirty people with schizophrenia who had high and low levels of negative symptoms (n = 15, respectively) and 21 healthy controls completed a visual probe detection task investigating selective attention bias (happy, sad, and angry faces randomly presented for 50, 500, or 1000 ms). A yes/no incidental facial memory task was then completed.
Previous meta-analytic studies conducted in Western countries have consistently revealed impairments in theory of mind (ToM) in schizophrenia. However, there is no systematic meta-analytic review of ToM deficits in individuals with schizophrenia in non-Western countries. In addition, ToM impairments in individuals with schizophrenia have not been investigated in the distinctive domains (i.
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