Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.

Hypertension affects more than one billion people worldwide. Here we identify 113 novel loci, reporting a total of 2,103 independent genetic signals (P < 5 × 10-8) from the largest single-stage blood pressure (BP) genome-wide association study to date (n = 1,028,980 European individuals). These associations explain more than 60% of single nucleotide polymorphism-based BP heritability. Comparing top versus bottom deciles of polygenic risk scores (PRSs) reveals clinically meaningful differences in BP (16.9 mmHg systolic BP, 95% CI, 15.5-18.2 mmHg, P = 2.22 × 10-126) and more than a sevenfold higher odds of hypertension risk (odds ratio, 7.33; 95% CI, 5.54-9.70; P = 4.13 × 10-44) in an independent dataset. Adding PRS into hypertension-prediction models increased the area under the receiver operating characteristic curve (AUROC) from 0.791 (95% CI, 0.781-0.801) to 0.826 (95% CI, 0.817-0.836, ∆AUROC, 0.035, P = 1.98 × 10-34). We compare the 2,103 loci results in non-European ancestries and show significant PRS associations in a large African-American sample. Secondary analyses implicate 500 genes previously unreported for BP. Our study highlights the role of increasingly large genomic studies for precision health research.

Measurement invariance of the inventory of teacher-student relationships among middle and high school students.

Teacher-student relationship quality (TSRQ) predicts academic motivation (Wentzel, 1997), school engagement, and academic achievement (Hughes, 2011). However, TSRQ appears to differ across demographics. For example, boys and racially/ethnically minoritized students consistently have poorer relationships with their teachers than girls and White students (Koomen & Jellesma, 2015; Murray et al., 2008). Ensuring that TSRQ is consistently conceptualized across individuals will allow demographic differences on TSRQ to be compared. The present study aims to further validate a survey instrument used to measure TSRQ, called the Inventory of Teacher-Student Relationships (IT-SR; Murray & Zvoch, 2011). Participants included 3,541 middle and high school students in a large school district in the Southeastern United States. The results of the study confirmed the hypothesized three-factor structure of the instrument. The instrument demonstrated configural, metric, and scalar invariance across race/ethnicity (Black/African American, White, Hispanic/Latinx, and multiracial) and partial metric and scalar invariance across gender (boys and girls) and school level (middle school and high school). Significant latent mean differences were found, where boys, Black/African American students, Hispanic/Latinx students, and high school students reported lower scores on various factors on the IT-SR compared to girls, White students, multiracial students, and middle school students, respectively. Results support future research and applied use of the IT-SR with middle and high school students. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

The Even Shorter Almost Perfect Scale: Psychometric Evaluation and Cross-National Implications for Psychological Outcomes.

Short empirically-supported scales or individual items are preferred in comprehensive surveys, brief screeners, and experience sampling studies. To that end, we examined the Short Almost Perfect Scale (SAPS) to evaluate empirical support for the interchangeability of items to measure perfectionistic strivings (Standards) and perfectionistic concerns (Discrepancy). Based on a large and diverse sample (N = 1,103) and tests of tau-equivalence (equal factor loadings) for each respective set of items, Study 1 advanced a subset of SAPS items to measure Standards (2 items) and Discrepancy (3 items). Cross-sectional gender and race/ethnicity invariance were supported, and in structural equations analyses, the SAPS5 factors were significantly associated with depression, state anxiety, life satisfaction, and gratitude. Study 2 cross-validated Study 1 measurement and structural findings with a new U.S. sample (N = 803). The three items representing the Discrepancy (perfectionistic concerns) factor also were supported in a cross-national comparison between the U.S. sample and a scale development sample in New Zealand (N = 3,921). For the most part, across both studies and all analyses, the three Discrepancy items were empirically interchangeable indicators of perfectionistic concerns and comparably strong predictors of psychological outcomes, supporting their use in studies or other contexts with space or time restrictions for measurement.

Dialect identification, intelligibility ratings, and acceptability ratings of dysarthric speech in two American English dialects.

The current study explored the intelligibility and acceptability ratings of dysarthric speakers with African American English (AAE) and General American English (GAE) dialects by listeners who identify as GAE or AAE speakers, as well as listener ability to identify dialect in dysarthric speech. Eighty-six listeners rated the intelligibility and acceptability of sentences extracted from a passage read by speakers with dysarthria. Samples were used from the Atlanta Motor Speech Disorders Corpus and ratings were collected via self-report. The listeners identified speaker dialect in a forced-choice format. Listeners self-reported their dialect and exposure to AAE. AAE dialect was accurately identified in 63.43% of the the opportunities; GAE dialect was accurately identified in 70.35% of the opportunities. Listeners identifying as AAE speakers rated GAE speech as more acceptable, whereas, listeners identifying as GAE speakers rated AAE speech as more acceptable. Neither group of listeners demonstrated a difference in intelligibility ratings. Exposure to AAE had no effect on intelligibility or acceptability ratings. Listeners can identify dialect (AAE and GAE) with a better than chance degree of accuracy. One's dialect may have an effect on intelligibility and acceptability ratings. Exposure to a dialect did not affect listener ratings of intelligibility or acceptability.

Mediating role of social skills in the longitudinal relationship between intrapersonal perfectionism and psychological well-being of preadolescents.

Intrapersonal perfectionism is the dispositional tendency to impose perfectionistic expectations on oneself and is considered a bidimensional construct that consists of standards perfectionism and discrepancy perfectionism. Although scholars established the links between standards perfectionism and psychological adjustment and between discrepancy perfectionism and psychopathology, the mechanisms that explain these associations remain relatively unknown. Thus, a better understanding of these mechanisms, especially in children, is warranted given their high prevalence in this developmental population and potential destructiveness on psychological well-being. The present study examined whether social skills with peers mediated the link between the dimensions of interpersonal perfectionism and psychological outcomes due to the salience of social skills acquisition in middle childhood. The study included 225 students (nfemale = 114; nmale = 111) with ages ranging from 7 to 10 years at Time 1 (T1; Mage = 8.55, SD = 1.15) and from 8 to 11 years at Time 2 (T2; Mage = 9.52, SD = 1.10). Participants provided responses on measures concerning standards perfectionism, discrepancy perfectionism, social skills, and psychological well-being at both time points. Longitudinal structural equation modeling indicated that standards perfectionism was positively associated with increases in social skills over time and psychological well-being, whereas discrepancy perfectionism was linked with decreases in social skills over time followed by psychological maladjustment. The study discusses implications for interventions and treatments.

Predicting and Moderating COVID-Fear and Stress among College Students in Argentina and the USA.

The COVID-19 pandemic negatively affected mental health worldwide and college students were particularly vulnerable to its adverse effects. This longitudinal study was designed to highlight and compare the COVID experiences of college students in Argentina and the USA (N = 361). Specifically, we examined individual factors (gender, emotional regulation, and social support) assessed prior to the pandemic for their role as predictors or moderators of COVID-fear and psychological stress during the first months of the pandemic. The results supported measurement invariance for brief measures of COVID-fear and indicated that, overall, COVID-fear was highest during the second wave of the study (March-April 2020), lowest during the third wave (June 2020), and then rose again during the fourth wave (September 2020). Several interaction effects emerged, revealing important country-level differences in COVID-fear effects for the emotion regulation and social support factors. More so in the Argentina sample than in the USA sample, higher levels of social support at Time 1 were associated with increases in the effect of COVID-fear on stress among students. We discussed the implications of these and other findings for future cross-cultural pandemic-related stress studies.

Cumulative Trauma and Trauma Symptoms: A Three-Way Interaction.

The purpose of this study was to test if perceived social support and self-compassion will interact to reduce the magnitude of the bivariate relationship (buffering effect) between cumulative trauma and trauma symptoms after controlling for gender and age among college students. As part of a broader research project conducted between 2018 and 2019, we collected data via online surveys from a sample of 551 undergraduate students at a public university in the southern region of the US. After data cleaning, the study included 538 participants (representing 97.6% of the original dataset), ensuring a diverse representation across various ethnicities and genders. The three-way interaction model accounted for 38.61% of the variance in PTSD symptoms. In detail, with high levels of perceived social support, there was a significant difference in the buffering effects of perceived social support on the trauma-PTSD association between high and low self-compassion. Conversely, at high levels of self-compassion, perceived social support did not significantly influence the buffering effect of self-compassion. This study underscores the critical role of self-compassion in enhancing the protective effect of high-level perceived social support against PTSD symptoms following cumulative trauma.

The Cultural Humility Scale for Students: Development and initial validation among adolescents.

Designed for middle and high school students to rate the cultural humility levels among their teachers, this two-study article reports on the development and initial validation of the Cultural Humility Scale for Students (CHS-S), which was adapted from the original Cultural Humility Scale used in psychotherapy. Having cultural humility may facilitate positive teacher-student relationships by preventing or responding to cultural differences when they occur. Study 1 validated the scale's use with a sample of middle school students (N = 1522). Exploratory and confirmatory factor analyses supported a two-factor structure (positive factor and negative factor) with 11 total items. Scalar measurement invariance was supported for gender comparisons. Partial scalar models were supported for race/ethnicity and grade comparisons. Compared with boys, girls reported that their teachers displayed significantly higher levels of positive cultural humility (estimate = 0.19, Cohen's d = 0.16, p = .005). Study 2 extended this work to examine high school students (N = 1612) and provided evidence that teacher cultural humility was predictive of teacher-student relationship quality (TSRQ). Results indicated that Black students who rated their teachers as having high cultural humility also reported having significantly more trust in their teachers compared to their White peers (p < .001). In terms of gender, boys who rated their teachers as having lower cultural humility had significantly less trust in their teachers and felt more alienated from their teachers compared to girls (p < .001). Results provide initial evidence that the CHS-S may be a reliable and valid instrument for measuring middle and high school students' perceptions regarding their teachers' cultural humility. Additionally, results suggest that perceived teacher cultural humility is significantly associated with TSRQ (p-values ranged from 0.05 to 0.001 in the areas of Trust, Communication, and Alienation) and could be used to complement evaluations of school climate. Limitations and future directions for research and practice are discussed.

Exact inference for fixed effects meta-analysis of 2 × 2 $$ 2\times 2 $$ tables.

Meta-analysis of associations between rare outcomes and binary exposures are particularly important in studies of a drug's potential side-effects. But meta-analysis of the resulting 2 × 2 $$ 2\times 2 $$ contingency tables presents substantial practical difficulties, as analysts are currently forced to pick between "exact" inference-that eliminates concern over using large-sample approximations with small cell counts-and explicitly allowing for heterogeneity of the underlying effects. A controversial example is given by the Avandia meta-analysis (Nissen and Wolski. N Engl J Med. 2007;356(24):2457-2471) of rosiglitazone's effects on myocardial infarction and death. While the initial Avandia analysis-using simple methods-found a significant effect, its results conflict with subsequent re-analyses that use either exact methods, or that explicitly acknowledge the plausible heterogeneity. In this article, we aim to resolve these difficulties, by providing an exact (albeit conservative) method that is valid under heterogeneity. We also provide a measure of the degree of conservatism, that indicates the approximate extent of the excess coverage. Applied to the Avandia data, we find support for Nissen and Wolski 2007's original results. Given that our method does not require strong assumptions or large cell counts, and provides intervals around the well-known conditional maximum likelihood estimate, we anticipate that it could be an attractive default method for meta-analysis of 2 × 2 $$ 2\times 2 $$ tables featuring rare events.

Sociodemographic factors as moderators of COVID-19 stress on depression.

BACKGROUND AND OBJECTIVES: The COVID-19 pandemic has disrupted many aspects of daily life, but relatively little is known about COVID-19-related stress for subgroups in the population. We examined differences in COVID-stress and depression as a function of gender, race, ethnicity, and subjective social status. We tested these factors as moderators of the association between COVID-stress and depression. DESIGN: We used a cross-sectional design to test associations between sociodemographic factors, COVID-stress, and depression. Analyses were based on confirmatory factor analytic and structural equations models. METHODS: A convenience sample of 1,058 U.S. MTurk workers and college students (54.5% cisgender women; 55.1% racial/ethnic minoritized individuals) was recruited. Participants completed self-report measures of COVID-stress and depression. RESULTS: COVID-stress was positively associated with depression. Overall, neither gender nor racial minoritized status moderated COVID-stress effects on depression. However, intersectional analyses revealed COVID-stress was a significant risk factor for depression among Black women compared to other participants. COVID-stress was more strongly linked to depression for Hispanic individuals and participants with higher social status. CONCLUSIONS: Future studies may benefit from the COVID-stress scale evaluated in this study and by considering the differential effects of sociodemographic factors on psychological functioning during the pandemic.

Meta-analysis of the relationship between self-critical perfectionism and depressive symptoms: Comparison between Asian American and Asian international college students.

A body of research has been dedicated to demonstrating the relationship of perfectionism with a range of mental health indicators. Self-critical perfectionism, a component of perfectionism, has been framed primarily in a negative light within the mental health context. Given that research informs educational and clinical practices, it is important to explore the degree to which such findings generalize across cultures and subcultures. The current meta-analytic research systemically collated studies conducted with Asian college students with a particular attention to exploring whether orientation to Asian culture and cultural values correspondingly moderates the relationship between self-critical perfectionism and depressive symptoms. The degree of upholding Asian cultural values was represented by group identity (i.e., Asian American and Asian international). Eleven studies (N = 3,239) were identified through the literature search. Findings from the random-effects meta-analysis indicated a significant relationship between self-critical perfectionism and depressive symptoms in the overall sample. The group identity significantly moderated the relationship; among Asian international college students, self-critical perfectionism appeared to have a less harmful effect on mental distress compared to Asian American college students. Self-cultivation-one of the salient and virtuous Asian cultural values that aligns with self-critical perfectionism-may have motivated continuous striving for self-improvement to fulfill the honorable duty for their family for Asian international students. Additional findings and implications of the study are further discussed. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.

Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies provides an attractive solution to the problem of collecting large sample sizes for discovering rare variants associated with complex phenotypes. Existing rare variant meta-analysis approaches are not scalable to biobank-scale WGS data. Here we present MetaSTAAR, a powerful and resource-efficient rare variant meta-analysis framework for large-scale WGS/WES studies. MetaSTAAR accounts for relatedness and population structure, can analyze both quantitative and dichotomous traits and boosts the power of rare variant tests by incorporating multiple variant functional annotations. Through meta-analysis of four lipid traits in 30,138 ancestrally diverse samples from 14 studies of the Trans Omics for Precision Medicine (TOPMed) Program, we show that MetaSTAAR performs rare variant meta-analysis at scale and produces results comparable to using pooled data. Additionally, we identified several conditionally significant rare variant associations with lipid traits. We further demonstrate that MetaSTAAR is scalable to biobank-scale cohorts through meta-analysis of TOPMed WGS data and UK Biobank WES data of ~200,000 samples.

Non-suicidal self-injury motivations in the light of self-harm severity indicators and psychopathology in a clinical adolescent sample.

Introduction: Adolescents with psychiatric problems are also considered a vulnerable population in terms of non-suicidal self-injury (NSSI). In the current study, we examined the associations of interpersonal and intrapersonal NSSI motivations with several NSSI severity indicators and psychopathological characteristics. Materials and methods: In a cross-sectional research design, 158 adolescents (83.5% girls; mean age = 16.10 years; SD = 1.49) who have received inpatient or outpatient psychiatric treatment completed the Inventory of Statements About Self-Injury, the Strengths and Difficulties Questionnaire, and the Self-Critical Rumination Scale. Results: More than two-thirds of the sample (75.3%; n = 119) reported at least one episode of NSSI in their life, and 45.38% (n = 54) have engaged in NSSI in the past month (current self-injury). The results indicated that only intrapersonal NSSI functions were linked to NSSI severity indicators (current and repetitive NSSI, versatility), interpersonal functions were not. Furthermore, a number of psychopathological features (co-occurring mental disorders, presence of a mood disorder, more internalizing mental illness symptoms, and more pronounced self-critical rumination) were associated with engaging in NSSI for intrapersonal reasons. We also identified other differences within the specific intrapersonal NSSI motivations. It should be highlighted that the anti-suicide function of NSSI behaved in exactly the opposite way as the other intrapersonal motivations. Discussion: All this points to the fact that in clinical settings, detailed assessment of NSSI motivations and severity indicators can help to develop a more effective treatment plan.

Can a school climate survey accurately and equitably measure school quality? Examining the multilevel structure and invariance of the Georgia School Climate Scale.

School climate measures are increasingly utilized as one indicator of school quality within educational accountability systems. However, concerns have been raised about the accuracy of these indicators given that school climate surveys are often not validated using multilevel methods. Further, cross-school comparisons in climate may not be trustworthy because the school-level invariance of climate surveys has not been investigated. There is a need to examine the validity of school-level climate constructs and to determine if surveys measure climate equitably for schools that serve underrepresented populations. The aim of the current study was to examine the multilevel factor structure of a statewide school climate survey to determine whether it measured climate equitably for students of different races/ethnicities and across schools with varying racial/ethnic and socioeconomic compositions. Participants included 259,778 students from 427 middle schools throughout a southeastern U.S. state. Cross-level invariance analyses revealed that the climate constructs were measured differently across levels of analysis, and school-level climate could not be interpreted as merely the aggregate of individual-level climate. Student- and school-level factorial invariance was tested using multilevel modeling procedures. Results revealed item bias with respect to student and school characteristics, and the relationships between school climate and student and school demographics changed after accounting for identified bias. As more educational agencies consider including school climate surveys in their accountability systems, these findings suggest that multilevel validation procedures and school-level invariance analyses are necessary to ensure accurate and equitable measurement.

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Accurate and efficient classification of variant pathogenicity is critical for research and clinical care. Using data from three large studies, we demonstrate that population-based associations between rare variants and quantitative endophenotypes for three monogenic diseases (low-density-lipoprotein cholesterol for familial hypercholesterolemia, electrocardiographic QTc interval for long QT syndrome, and glycosylated hemoglobin for maturity-onset diabetes of the young) provide evidence for variant pathogenicity. Effect sizes are associated with pathogenic ClinVar assertions (P < 0.001 for each trait) and discriminate pathogenic from non-pathogenic variants (area under the curve 0.82-0.84 across endophenotypes). An effect size threshold of ≥ 0.5 times the endophenotype standard deviation nominates up to 35% of rare variants of uncertain significance or not in ClinVar in disease susceptibility genes with pathogenic potential. We propose that variant associations with quantitative endophenotypes for monogenic diseases can provide evidence supporting pathogenicity.

Expressing regret: a unified view of credible intervals.

Posterior uncertainty is typically summarized as a credible interval, an interval in the parameter space that contains a fixed proportion - usually 95% - of the posterior's support. For multivariate parameters, credible sets perform the same role. There are of course many potential 95% intervals from which to choose, yet even standard choices are rarely justified in any formal way. In this paper we give a general method, focusing on the loss function that motivates an estimate - the Bayes rule - around which we construct a credible set. The set contains all points which, as estimates, would have minimally-worse expected loss than the Bayes rule: we call this excess expected loss 'regret'. The approach can be used for any model and prior, and we show how it justifies all widely-used choices of credible interval/set. Further examples show how it provides insights into more complex estimation problems.

Accounting for population structure in genetic studies of cystic fibrosis.

CFTR F508del (c.1521_1523delCTT, p.Phe508delPhe) is the most common pathogenic allele underlying cystic fibrosis (CF), and its frequency varies in a geographic cline across Europe. We hypothesized that genetic variation associated with this cline is overrepresented in a large cohort (N > 5,000) of persons with CF who underwent whole-genome sequencing and that this pattern could result in spurious associations between variants correlated with both the F508del genotype and CF-related outcomes. Using principal-component (PC) analyses, we showed that variation in the CFTR region disproportionately contributes to a PC explaining a relatively high proportion of genetic variance. Variation near CFTR was correlated with population structure among persons with CF, and this correlation was driven by a subset of the sample inferred to have European ancestry. We performed genome-wide association studies comparing persons with CF with one versus two copies of the F508del allele; this allowed us to identify genetic variation associated with the F508del allele and to determine that standard PC-adjustment strategies eliminated the significant association signals. Our results suggest that PC adjustment can adequately prevent spurious associations between genetic variants and CF-related traits and are therefore effective tools to control for population structure even when population structure is confounded with disease severity and a common pathogenic variant.