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PubMed2001

Reliability and validity of the digestive health status instrument in samples of community, primary care, and gastroenterology patients.

AIM: We evaluated a previously reported digestive health status instrument in community, primary care, and gastroenterology practice populations. Multiple types of reliability, validity and responsiveness were assessed to determine the performance of the questionnaire. METHODS: Study populations included community, primary care and gastroenterology subjects. Psychometric analyses included internal consistency and test-retest reliability, criterion and construct validity, and responsiveness. RESULTS: Acceptable internal consistency was seen on all scales in all three populations. Test-retest reliability was excellent in a speciality population with reflux disease. Criterion validity was demonstrated by strong correlation of reflux scale scores and results on 24-h pH monitoring. Scale scores varied predictably in those receiving gastrointestinal tract imaging and according to diagnosis, indicating construct validity. The reflux scale and pain index were sensitive to change with treatment for reflux disease. Multi-trait scaling analyses from the community sample revealed a structure equivalent to that reported from a primary care sample. CONCLUSIONS: The reliability and validity of the digestive health status instrument on multiple measures in multiple settings have been demonstrated. The instrument was responsive to change with treatment for reflux disease. The demonstrated robustness attests to the suitability for future studies and clinical application.

Adult↗

PubMed2000

Adaptation of the Diabetes Health Profile (DHP-1) for use with patients with Type 2 diabetes mellitus: psychometric evaluation and cross-cultural comparison.

AIMS: To adapt the Diabetes Health Profile (DHP-1) for use with English speaking patients with Type 2 diabetes mellitus and to evaluate the psychometric properties of the adapted measure in a UK and Danish sample of insulin, tablet and diet-treated patients with Type 2 diabetes. METHODS: Following linguistic adaptation using the forward-backward translation procedure, the 32-item DHP-1 was sent to 650 and 800 consecutively selected UK and Danish patients with Type 2 diabetes. Construct validity was assessed using principal axis factoring. Factor stability was assessed across language groups using the coefficient of congruence. Reliability was evaluated using Cronbach's alpha and multi-trait analysis, including item convergent/discriminant validity. Subscale discriminant validity was assessed through known groups with one-way ANOVA and post hoc Scheffe tests for multiple comparisons. RESULTS: Eighteen items (56.25%) were retained following initial item analysis. A three-factor solution accounting for 45.6% and 40.3% of the total explained variance was identified in the UK and Danish samples, respectively. Factors were interpreted as psychological distress (PD), barriers to activity (BA) and disinhibited eating (DE). Factor congruence between language groups ranged from 0.98 to 0.99 and Cronbach's alpha ranged between 0.70 and 0.88. Item scaling success for both language versions was 88.9%. BA scores discriminated between treatment groups in both language groups (F = 24.24, P < 0.001; F = 7.68, P < 0.001) and PD scores in the UK sample (F = 20.97, P < 0.001). CONCLUSIONS: The DHP-18 developed for use with patients with Type 2 diabetes has been shown to have satisfactory internal reliability and validity and measurement equivalence across language groups.

Affect↗

PubMed2005

Genetic parameters of ascites-related traits in broilers: correlations with feed efficiency and carcase traits.

(1) Pulmonary hypertension syndrome followed by ascites is a metabolic disorder in broilers that occurs more often in fast-growing birds and at cool temperatures. (2) Knowledge of the genetic relationships among ascites-related traits and performance traits like carcase traits or feed efficiency traits is required to design breeding programmes that aim to improve the degree of resistance to ascites syndrome as well as production traits. The objective of this study was to estimate these genetic correlations. (3) Three different experiments were set up to measure ascites-related traits (4202 birds), feed efficiency traits (2166 birds) and carcase traits (2036 birds). The birds in different experiments originated from the same group of parents, which enabled the estimation of genetic correlations among different traits. (4) The genetic correlation of body weight (BW) measured under normal conditions and in the carcase experiment with the ascites indicator trait of right ventricle to total ventricle ratio (RV:TV) measured under cold conditions was 0.30. The estimated genetic correlation indicated that single-trait selecting for BW leads to an increase in occurrence of the ascites syndrome but that there are realistic opportunities of multi-trait selection of birds for improved BW and resistance to ascites. (5) Weak but positive genetic relationships were found between feed efficiency and ascites-related traits suggesting that more efficient birds tend to be slightly more susceptible to ascites. (6) The relatively low genetic correlation between BW measured in the carcase or in the feed efficiency experiments and BW measured in the ascites experiment (0.49) showed considerable genotype by environment interaction. (7) These results indicate that birds with high genetic potential for growth rate under normal temperature conditions have lower growth rate under cold-stress conditions due to ascites.

Animal Nutritional Physiological Phenomena↗

PubMed2004

Heritabilities and genetic correlations of laying performance in Muscovy ducks selected in Taiwan.

1. Genetic parameters in the base population of a closed experimental strain of Muscovy ducks, selected for body weight at 10 weeks of age, were estimated from data in 8 successive generations, for the following traits: age at first egg (AGE1EGG), total number of eggs laid at 40 and 52 weeks of age (NEGG40 and NEGG52), number of eggs laid during 15 and 22 weeks in the first laying cycle (NEGG15W and NEGG22W), and their Box-Cox transformed data. 2. The method of multi-trait restricted maximum likelihood with an animal model was used to estimate genetic parameters. Only the results obtained with non-transformed data are shown. 3. Heritability estimates for laying performance showed moderate values, increasing little with age: 0.20+/-0.03 (AGE1EGG), 0.23+/-0.03 (NEGG40), 0.27+/-0.03 (NEGG52), 0.20+/-0.03 (NEGG15W), and 0.22+/-0.03 (NEGG22W). 4. Genetic correlations between laying traits were high. Genetic correlation between AGE1EGG and egg number was negative, it was positive between total numbers of eggs at 40 and 52 weeks and egg numbers in the first laying cycle. 5. Body weight at 10 weeks of age exhibited positive genetic correlations (0.46+/-0.06) with age at first egg and negative with egg production traits (-0.28+/-0.06 to -0.41+/-0.06). 6. The cumulated predicted genetic gains, after 7 generations of selection, expressed per genetic standard deviation unit (sigma(g)) were 0.06 sigma(g), 0.07 sigma(g), 0.17 sigma(g), 0.23 sigma(g), and 0.25 sigma(g) for AGE1EGG, NEGG40, NEGG52, NEGG15W, and NEGG22W, respectively. 7. Selecting Muscovy ducks to improve laying in Taiwanese climatic conditions would be possible using the number of eggs laid up to 52 weeks of age as the selection criterion. Because unintended selection effects for laying traits were present, the selection experiment for body weight at 10 weeks of age was not antagonistic with laying traits.

Animals↗

PubMed2005

Development and validation of the Patient Assessment of Constipation Quality of Life questionnaire.

OBJECTIVE: Chronic constipation is characterized by difficult, infrequent, or seemingly incomplete bowel movements. The Patient Assessment of Constipation Quality of Life (PAC-QOL) questionnaire was developed to address the need for a standardized, patient-reported outcomes measure to evaluate constipation over time. MATERIAL AND METHODS: Items for the PAC-QOL were generated from the literature, clinical experts, and patients. Following principal components and multi-trait analyses, 28 items were retained forming four subscales (worries and concerns, physical discomfort, psychosocial discomfort, and satisfaction) and an overall scale. Validation studies were conducted in the United States, Europe, Canada, and Australia, to evaluate the internal consistency reliability (Cronbach's alpha), reproducibility (Intraclass Correlation Coefficients (ICCs)), validity (analysis of variance models), and responsiveness (effect size) of the PAC-QOL scales. RESULTS: The PAC-QOL scales were internally consistent (Cronbach's alpha >0.80) and reproducible (ICCs >0.70, except for the satisfaction subscale ICC=0.66). PAC-QOL scale scores were significantly associated with abdominal pain (p<0.001) and constipation severity (p<0.05). Effect sizes in patients reporting improvements in constipation over a 6-week period were moderate to large, with subscale effect sizes ranging from 0.76 to 3.41 and the overall scale effect size=1.77. Similar findings were observed in validation studies conducted in Europe, Canada, and Australia. CONCLUSIONS: The PAC-QOL is a brief but comprehensive assessment of the burden of constipation on patients' everyday functioning and well-being. Multinational studies demonstrate that the PAC-QOL is internally consistent, reproducible, valid, and responsive to improvements over time.

Adult↗

PubMed2001

The development and initial validation of the Exercise Causality Orientations Scale.

Deci and Ryan's causality orientations theory suggests that there are individual differences in motivational orientation towards initiating and regulating behaviour. They described three causality orientations: autonomy, control and impersonal. The aim of this paper is to describe the development and concurrent validity of the Exercise Causality Orientations Scale (ECOS), which was designed to measure the strength of these three orientations within exercise. Altogether, 592 working adults aged 35.0 +/- 11.4 years (mean +/- s) completed the ECOS and measures of self-determination, self-consciousness and social desirability. The analysis was conducted in two parts. First, the data were subjected to confirmatory factor analysis using a multi-trait, multi-method framework. The original model resulted in a poor fit to the data. On the basis of its modification indices, three scenarios with ambiguous items were removed successively, resulting in a scale with good psychometric properties. Secondly, Pearson's correlations were conducted between the subscales of the ECOS and those of the questionnaires used for validation. Most of the results supported a priori hypotheses. In conclusion, our results show the ECOS to have good psychometric properties and they provide some support for its concurrent validity.

Adult↗

PubMed2004

Validation of quality of life instruments in ALS.

BACKGROUND: Non-invasive ventilation (NIV) probably improves survival in ALS, but its effect on quality of life (QoL) is less clear. Most potentially useful QoL instruments have not been validated in this context. METHODS: We assessed the validity (multi-trait multi-method analysis), internal consistency (Cronbach's alpha), test-retest stability (intra-class correlations) and response to disease severity and NIV (effect size) of two generic instruments, the Short Form 36 (SF-36) and the General Well-being Schedule; two specific instruments, the Chronic Respiratory Disease Questionnaire (CRQ) and the Sleep Apnoea QoL Index (SAQLI), and a scale of daytime sleepiness, the Epworth Sleepiness Scale (ESS) in 23 subjects with ALS. Functional status, limb and axial muscle strength, and maximum inspiratory pressure were assessed, together with the QoL measurements, every two months. RESULTS: All instruments showed good or excellent validity, internal consistency and test-retest stability overall. Subjects without symptomatic respiratory compromise had difficulty identifying activities for the CRQ dyspnoea domain and symptoms for the SAQLI symptoms domain. Marked floor effects were observed in the physical function and role domains of the SF-36. Domains assessing sleep-related problems and mental health showed greater effect of differences in respiratory function than functional status, and the greatest response to NIV. CONCLUSIONS: Of the generic instruments the SF-36 was most useful, but limited by floor effects. Of the specific instruments, the SAQLI symptoms domain was most responsive to NIV, but this instrument took longer to complete, and several items were inappropriate. The CRQ and ESS are valid and responsive alternatives.

Adult↗

PubMed2005

Cognitive assessment of social anxiety: a comparison of self-report and thought listing methods.

The goal of the present study was to compare 2 cognitive assessment methods for social anxiety: a thought listing and a self-report method. The focus of this study was on the convergent and divergent validity of these methods using a multi-trait multi-method approach. Furthermore, treatment sensitivity was explored. Fifty-eight patients with social phobia completed thought listings followed by 2 different social stress tasks before and after an exposure group treatment (n = 33), or following a waiting period (n = 25). One task consisted of speaking in front of 2 confederates while the other task involved initiating a conversation with an opposite-sex confederate. Two questionnaires measuring positive and negative self-statements regarding public speaking and social interactions were also completed. To compare the balance of positive and negative thoughts, the State of Mind ratio [positive thoughts/(positive+negative thoughts)] was calculated for both cognitive assessment methods. Results demonstrate that methods related to social interaction anxiety showed better convergent validity than methods related to public speaking anxiety; however, public speaking methods captured treatment effects better than methods related to social interaction anxiety. This study questions the common assumption that different cognitive assessment methods measure the same construct.

Adult↗

PubMed2026

SAIGE-GPU: accelerating genome- and phenome-wide association studies using GPUs.

MOTIVATION: Genome-wide association studies (GWAS) at biobank scale are computationally intensive, especially for admixed populations requiring robust statistical models. SAIGE is a widely used method for generalized linear mixed-model GWAS but is limited by its CPU-based implementation, making phenome-wide association studies impractical for many research groups. RESULTS: We developed SAIGE-GPU, a GPU-accelerated version of SAIGE that replaces CPU-intensive matrix operations with GPU-optimized kernels. The core innovation is distributing genetic relationship matrix calculations across GPUs and communication layers. Applied to 2068 phenotypes from 635 969 participants in the Million Veteran Program, including diverse and admixed populations, SAIGE-GPU achieved a 5-fold speedup in mixed model fitting on supercomputing infrastructure and cloud platforms. We further optimized the variant association testing step through multi-core and multi-trait parallelization. Deployed on Google Cloud Platform and Azure, the method provided substantial cost and time savings. AVAILABILITY AND IMPLEMENTATION: Source code and binaries are available for download at https://github.com/saigegit/SAIGE/tree/SAIGE-GPU-1.3.3. A code snapshot is archived at Zenodo for reproducibility (DOI: [10.5281/zenodo.17642591]). SAIGE-GPU is available in a containerized format for use across HPC and cloud environments and is implemented in R/C++ and runs on Linux systems.

Genome-Wide Association Study↗

PubMed2003

Interpersonal and organizational dimensions of patient satisfaction: the moderating effects of health status.

OBJECTIVES: Based on Donabedian's structure, process, and outcome model, this study was conducted to identify the underlying dimensions of patient satisfaction for diabetic patients and determine the effects of demographic characteristics and health status on these dimensions. DESIGN: A cross-sectional analytical research design was used with a questionnaire, comprising demographic characteristics, the general and mental health items from the SF-20, and a 25-item patient satisfaction scale. SETTING AND STUDY PARTICIPANTS: The questionnaire was administered to 263 South African black diabetic outpatients from the diabetic clinics at two hospitals. There were 174 females and 89 males, aged between 16 and 89 years (mean = 53.5, sd = 13.9). The average number of years of schooling was 6.3 (sd = 4.1). Main outcome measure. A reliable and valid patient satisfaction scale. RESULTS: Factor analysis was conducted on the patient satisfaction scale and two factors, accounting for 71.6% of the variance, were extracted. The major items on Factor I were support, consideration, friendliness, and encouragement, labelled the interpersonal dimension. Factor II emphasized availability of a seat and toilet in the waiting area and cleanliness, labelled the organizational dimension. The two factors had very good reliability coefficients: 0.85 (organizational) and 0.98 (interpersonal). Multi-trait scaling showed that all items exceeded the item convergent (r > 0.40) and discriminant (Z > 1.96) validity criteria. Patients in poor general health were significantly less satisfied (P = 0.007) with the organizational quality of their care than patients in good health; patients in poor mental health were significantly less satisfied (P = 0.04) with the interpersonal quality of their care than patients in good mental health. CONCLUSIONS: The findings provided support for Donabedian's model. They demonstrated that attributes of providers and settings are major components of patient satisfaction, and showed that the scale is a reliable and valid measure of patient satisfaction for this South African population.

Adolescent↗

PubMed2026

Using high-dimensional environmental covariates to study genotype by environment interaction for reproductive traits in Duroc boars.

We investigated the potential of incorporating grid-cell-based environmental covariates (ECs) in the genetic evaluation of total sperm count (TSC), sperm motility (MOT), and sperm morphology (MOR) for Duroc boars. A total of 188,665 records derived from 3,684 genotyped boars, born between December 2018 and October 2024 and raised in three stud farms located in different U.S. states, were analyzed using multi-trait linear-threshold repeatability models. To account for genotype by environment interactions (GE), we constructed an interaction matrix as the Hadamard product of the genomic relationship matrix and an environmental (co)variance matrix. The environmental groups were defined in three ways: farm, farm-season, and farm-year-season. The (co)variance matrix was constructed based on daily ECs obtained from the NASA POWER database for each environmental group. Of all available ECs, those significantly associated with TSC, MOT, and MOR (temperature, relative humidity, atmospheric pressure, and wind speed and direction) were retained. We evaluated five models with different GE structures: M1 represented the baseline without accounting for GE, in M2 the GE included farm as environmental groups, in M3 the GE included farm-season as environmental groups, in M4 the GE included farm-year-season as environmental groups, and M5 involved M3 with an additional random effect of the farm-season. Estimates of heritability for TSC, MOT, and MOR ranged from 0.03 to 0.04, 0.05 to 0.08, and 0.04 to 0.08, respectively. Corresponding repeatability ranged from 0.15 to 0.23, 0.28 to 0.49, and 0.28 to 0.49. The proportion of phenotypic variance attributed to GE variance ranged from 0.00 to 0.32, 0.00 to 0.44, and 0.00 to 0.44. Lastly, estimates of genetic correlation, TSC-MOT, TSC-MOR, and MOT-MOR ranged from 0.27 to 0.31, 0.24 to 0.31, and 0.98 to 0.99, respectively, with minor differences across models. We assessed the predictive ability of models using the linear regression validation. Across traits and models, bias ranged from -0.05 to 0.02 standard deviations, slope varied from 0.88 to 0.99, the correlation ranged from 0.75 to 0.84, and accuracy from 0.41 to 0.53. Overall, building the GE matrix considering grid-cell-based ECs helped to account for GE, thereby reducing the proportion of phenotypic variance attributed to genetic components; however, it did not improve the validation metrics. Additional on-farm records for ECs may improve the model performance.

Animals↗

PubMed1999

Discounted expressions of traits in broiler breeding programs.

The commercially grown broiler usually is a crossbred from specialized purebred sire and dam lines. The position of a purebred line in the crossbreeding system influences its genetic contribution to expression of productive and reproductive performance at different stages of the production column and, thus, influences the breeding goal for a given line. In broiler breeding, cumulative discounted expressions (CDE) should be considered to define breeding goals for multi-trait selection. In the present study, a systematic design for the application of discounted gene flow methodology to derive CDE for production and reproduction traits in broiler breeding was developed. Factors considered as influencing the magnitude of CDE were: crossbreeding system (two-way, three-way, and four-way cross), selection scheme (with and without progeny testing and intensity of selection), selection path, trait (production at commercial stage and reproduction at either nucleus or multiplier stage), interest rate, and time horizon for evaluation. Performance data from a commercial breeding stock were applied in the analysis. Results indicated that levels of CDE were significantly affected by all factors studied. The more that pure lines were included in the crossbreeding system, the lower the CDE for a particular selection path. However, the summation of all selection paths did not differ much among crossbreeding systems. Progeny testing decreased CDE by increasing generation intervals. The CDE for reproduction traits were higher than those for production traits mainly as a result of earlier expression of the reproduction traits.

Animal Husbandry↗

PubMed1999

Reliability and validity of French, German, Italian, Dutch, and UK English translations of the Medical Outcomes Study HIV Health Survey.

OBJECTIVES: Test the reliability and validity of 5 translations of the 34-item version of the MOS HIV for use in multinational clinical trials. RESEARCH DESIGN: Investigators in five countries followed a standardized protocol and recruited HIV+ patients stratified by disease stage: asymptomatic; symptomatic; and AIDS. During routine clinic visits, patients completed the MOS HIV and a checklist of HIV-related symptoms. Clinicians reported patients' demographics, most recent CD4+ count and disease stage. SUBJECTS: Three hundred and sixty three HIV+ outpatients attending AIDS clinics in The Netherlands, France, Germany, Italy, and England. MEASURES: Dutch, French, German, Italian, and UK English translations of the MOS HIV CD4+ cell count and the SCL-57. RESULTS: All translations recruited roughly equal proportions of each disease stage, although the number of patients recruited differed by translation (n: German = 92, French = 86; Italian = 88; UK English = 72; and Dutch = 25). Internal consistency reliability was similar across translations and adequate (alpha >.70) for all scales except for Mental Health in the French sample. Multi-trait analyses supported structural validity of the MOS HIV scales in each translation. Principal component analysis of scale scores identified 2 dimensions for all translations except German. For all translations, scores were significantly correlated with symptom severity scores but were uncorrelated with CD4+ cell counts. CONCLUSIONS: In general, the 5 translations of the MOS HIV had similar psychometric properties to those reported in the validation study for the original US English version of the MOS HIV. With some revision, these translations promise to provide useful quality of life data from HIV+ subjects in clinical trials.

Activities of Daily Living↗

PubMed2026

Genetic evidence that advanced COVID-19 accelerates longitudinal brain atrophy: A Mendelian randomization study.

Coronavirus disease 2019 (COVID-19) was reported to persist long-term in the brain and leave several long-term neurologic sequelae. However, the causal relationship between COVID-19 and brain aging is still unknown. The genome-wide association study (GWAS) data on COVID-19 phenotypes (susceptibility, hospitalization, and severity), involving a total of 5,779,391 participants, were collected from the COVID-19 Host Genetics Initiative. In addition, GWAS data on longitudinal changes in 15 brain structures, assessed via magnetic resonance imaging across the lifespan, were sourced from the ENIGMA Consortium and involved 15,640 participants. Two-sample Mendelian randomization was conducted to infer the causal relationship between COVID-19 and longitudinal brain changes. Multi-trait GWAS meta-analysis, colocalization, and fine-mapping analyses were performed to identify shared genetic etiologies. H3K27me3 ChIP-seq was used to evaluate the regulatory effect of colocalized loci. Two-step Mendelian randomization was applied to explore potential mediating mechanisms across multi-omics layers, including proteomics, metabolomics, and immunomics. Our results showed that COVID-19 hospitalization (β = -262.405, P = .041) and severity (β = -177.676, P = .049) were genetically associated with atrophied volume of total brain during longitudinal change. This suggests that individuals with advanced COVID-19 may be more susceptible to accelerated global brain aging. Caudate was genetically affected by all COVID-19 phenotypes. Seven variants were shared between advanced COVID-19 and global brain aging. rs117169628 was colocalized between advanced COVID-19 and global brain aging, and exerted an inhibitory effect on CDH15 expression, further strengthening the causality. Six metabolites, 1 protein, and 1 immune trait were identified as potential mediators. Our study indicates that advanced COVID-19 might be genetically associated with accelerated brain aging. Brain health should be paid more attention in long COVID-19.

Humans↗

PubMed2025

Multi-Polygenic prediction of Frailty and its Trajectories highlights Chronic Pain, Rheumatoid Arthritis, and Educational Attainment pathways.

Frailty is a complex ageing-related trait with a growing evidence base for genetic influence. While a single polygenic score (PGS) for frailty has shown predictive value, few studies have examined the joint effect of multiple genetic risks. This study used a multi-polygenic score (MPS) approach to evaluate the combined and relative contributions of 26 PGSs to frailty, measured via the Frailty Index (FI), in two UK cohorts aged 65 and older: the English Longitudinal Study of Ageing (ELSA) and the Lothian Birth Cohort 1936 (LBC1936). Using elastic net regression with repeated cross-validation, we identified chronic pain and depressive symptoms PGSs as the strongest risk predictors of cross-sectional frailty status, while educational attainment, parental longevity, and rheumatoid arthritis PGSs were protective. Compared to single PGS models, MPS models provided improved prediction of frailty levels, explaining up to 4.7% of variance in frailty status - an improvement over the best single PGS (2.5%). To assess whether PGSs also predicted longitudinal frailty progression, we applied generalized additive mixed models (GAMMs) to model age-related trajectories. In ELSA, five PGSs (chronic pain, depressive symptoms, rheumatoid arthritis, educational attainment, and parental death) significantly interacted with age, influencing the rate of frailty change. In LBC1936, consistent though weaker effects were observed for chronic pain and education PGSs. These findings show that polygenic liability shapes both frailty levels and trajectories in later life. Our results support the use of multi-trait genomic models to improve risk prediction and understanding of frailty's complex aetiology.

Journal Article↗

PubMed2001

Suppression, repressive-defensiveness, restraint, and distress in metastatic breast cancer: separable or inseparable constructs?

A longstanding hypothesis links affective and behavioral inhibition with cancer incidence and progression though it does not clarify psychometric distinctions among related constructs. We hypothesized that repressive-defensiveness, suppression, restraint, and distress would be separable factors in our sample of metastatic breast cancer patients. Our results support the discriminant validity of these constructs in our total sample, and the stability over 1 year in our control group. Using factor analysis, we found 4 separate factors at our prerandomization baseline corresponding closely to hypothesized constructs. Additionally, associations in a multi-trait, multi-occasion (baseline and 1 year) matrix met each of the 3 Campbell and Fiske (1959) criteria of convergent and discriminant validity. Future research testing the links between psychological, physiological, and survival outcomes with affective inhibition in cancer patients will be clearer when informed by these distinctions.

Adult↗

PubMed2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a heritable trait with marked variability in expression and outcomes. Our aims were to discover new genetic loci associated with HCM and to test the effect of a new polygenic risk score (PRS) on incidence, phenotype and outcomes stratified by genotype status. METHODS: A discovery genome-wide association study (GWAS) was performed on 2284 HCM cases and 4525 controls. Two fixed-effects meta-analyses combined our discovery GWAS with single-trait and multi-trait results from a published study. Discovered loci underwent comprehensive bioinformatic analysis including functional and druggability annotations. A PRS using loci from the two meta-analyses was evaluated for association with HCM diagnosis in 411 213 individuals from UK Biobank (UKBB); imaging phenotypes in individuals without HCM; a composite endpoint (including all-cause mortality and transplantation); and sudden cardiac death (SCD) in 1756 HCM cases. PRS analyses were stratified by genotype status. RESULTS: Three loci were found in the discovery GWAS (BAG3, FHOD3 and novel locus PPP1R3A). In the meta-analyses, 70 unique loci were identified, four novel (MYPN, YWHAE, NOS1AP and OBSCN). Bioinformatic analyses identified NOS1AP as a candidate HCM gene. A new PRS was significantly associated with HCM diagnosis (HR=3.19, 95% CI 2.46 to 4.14 for top 5% vs lower 95%; HR=1.88, 95% CI 1.72 to 2.06 per SD increase). Significant associations were found between PRS and greater left ventricular (LV) wall thickness and higher LV ejection fraction in UKBB participants without HCM. Genotype-negative HCM cases in the top 20% of the PRS distribution had an increased risk of SCD (HR=2.72, 95% CI 1.03 to 7.17). CONCLUSIONS: We report novel HCM loci. A new PRS predicted the risk of HCM development and associated imaging characteristics in the UKBB and outcomes in an HCM cohort.

Cardiomyopathies↗

PubMed2001

Quality of life in spinal cord injury patients with urinary difficulties. Development and validation of qualiveen.

BACKGROUND: Quality of life (QoL) may be severely affected in patients with spinal cord injury (SCI) and resulting urinary difficulties (UD). There is, however, a need for instruments capable of measuring QoL in these patients. The aim of this study was to develop and validate a questionnaire suitable for use in SCI patients with urinary disorders. METHODS: Following patient interviews, a questionnaire was developed in French that was subjected to item reduction and cross-sectional validation. The resulting Qualiveen (Qualiveen is a pending registration trade mark of Coloplast A/S, DK-3050 Humlebaek, Denmark) questionnaire underwent multi-trait and principal component analysis and the test-retest reliability of the questionnaire was examined in stable patients. RESULTS: Patient interviews identified 257 concepts relevant to SCI patients with urinary disorders. Item reduction led to a 30-item questionnaire, which was psychometrically validated in 281 SCI patients with UD. The median age of patients was 41 years, 78% were male and the majority were paraplegic (55%). The construct and clinical validity of the Qualiveen was confirmed, as well as its reliability in patients whose condition was stable over a 15-day period. Patients confirmed that it was easy to understand, complete and comprehensive. CONCLUSIONS: The Qualiveen is a reliable and psychometrically validated instrument that may be used to measure the QoL of SCI patients with UD.

Adult↗