Genetic Association in Multivariate Phenotypic Data: Power in Five Models

2010 ◽  
Vol 13 (6) ◽  
pp. 525-543 ◽  
Author(s):  
Camelia C. Minica ◽  
Dorret I. Boomsma ◽  
Sophie van der Sluis ◽  
Conor V. Dolan

This article concerns the power of various data analytic strategies to detect the effect of a single genetic variant (GV) in multivariate data. We simulated exactly fitting monozygotic and dizygotic phenotypic data according to single and two common factor models, and simplex models. We calculated the power to detect the GV in twin 1 data in an ANOVA of phenotypic sum scores, in a MANOVA, and in exploratory factor analysis (EFA), in which the common factors are regressed on the genetic variant. We also report power in the full twin model, and power of the single phenotype ANOVA. The results indicate that (1) if the GV affects all phenotypes, the sum score ANOVA and the EFA are most powerful, while the MANOVA is less powerful. Increasing phenotypic correlations further decreases the power of the MANOVA; and (2) if the GV affects only a subset of the phenotypes, the EFA or the MANOVA are most powerful, while sum score ANOVA is less powerful. In this case, an increase in phenotypic correlations may enhance the power of MANOVA and EFA. If the effect of the GV is modeled directly on the phenotypes in the EFA, the power of the EFA is approximately equal to the power of the MANOVA.

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 351.2-352
Author(s):  
L. Van de Stadt ◽  
F. Kroon ◽  
M. Reijnierse ◽  
D. Van der Heijde ◽  
F. Rosendaal ◽  
...  

Background:Ultrasound (US) is used in rheumatic musculoskeletal diseases (RMDs) such as hand osteoarthritis (OA) as outcome measure. Traditionally scoring is performed real-time, but central reading of static US images could avoid issues of inter-rater reliability. However, agreement between real-time and static assessment has not been studiedObjectives:To study the agreement between real-time and static scoring of US in inflammatory hand OA.Methods:Ultrasound was performed of 30 joints obtained in 75 patients with hand osteoarthritis, treated with prednisolone or placebo in a randomized double-blind trial. Hand joints were assessed for synovial thickening, effusion, Doppler signal and osteophytes by ultrasound (score 0-3 per joint) at baseline and after treatment. Two ultrasonographers blinded for clinical data scored the live images together (simultaneously) in real-time. A consensus score for each joint was recorded. Representative images stored during scanning were scored by one ultrasonographer minimally 6 months after real-time scoring. For each patient, images of each visit were scored paired, with known chronological order.Agreement between scoring methods was studied at joint level with quadratic weighted kappa. At patient level, intra-class correlations (ICC; mixed effect model, absolute agreement, with clustering taken into account) were calculated at both timepoints. ICCs were also calculated for the delta of sum scores. Responsiveness of scoring methods was analyzed with generalized estimating equations (GEE) with treatment as independent and ultrasonography findings as dependent variable.Results:Thirty-nine patients (52%) were treated with prednisolone and 36 (48%) were treated with placebo. Patient characteristics were well-balanced between treatment groups.All patients had signs of synovial thickening and osteophytes as assessed by real-time ultrasonography, and almost all signs of effusion (99%) or a positive Doppler signal (95%) in at least one joint. Total ultrasonography sum score for osteophytes was high (mean 45 ±SD 12), whereas sum score was low for positive Doppler signal (mean 5.9 ±SD 4.4), with intermediate sum scores for synovial thickening and effusion (mean 16 ±SD 6.3 and 11 ±SD 6.0 respectively). Static sum scores were overall slightly higher (osteophytes mean 48 ±SD 10; Doppler mean 6.9 S±D 5.0; synovial thickening mean 20 ±SD 7.0 and effusion 13 ±SD 6.5)Agreement at baseline was good to excellent at joint level (kappa 0.72-0.88) and moderate to excellent at patient level (ICC 0.59-0.86). Agreement for delta sum scores was poor to fair for synovial thickening and effusion (ICC 0.18 and 0.34 respectively), but excellent for Doppler signal (ICC 0.80) (Table 1).Real-time ultrasonography showed responsiveness to prednisolone with a mean between-group difference of synovial thickening sum score of -2.5 (CI:-4.7 to-0.3). Static ultrasonography did not show a decrease in synovial thickening (Figure 1). No difference in ultrasonography scores was seen for the other ultrasonography features, neither with real-time nor static scoring.Conclusion:While cross-sectional agreement between real-time and static ultrasonography was good, agreement of delta sum scores was not and paired static ultrasonography measurement of synovial thickening did not show responsiveness to prednisone therapy where real-time ultrasonography did. Therefore, when using ultrasonography in clinical trials, real-time dynamic scoring should remain the standard.Table 1.Agreement on patient levelBaselineWeek 6Delta W6-BLICC (95% CI)ICC (95% CI)ICC (95% CI)Synovitis0.59 (0.26-0.76)0.58 (0.24-0.77)0.18 (0 - 0.40)Effusion0.84 (0.66-0.92)0.84 (0.75-0.89)0.34 (0.12-0.53)Osteophytes0.82 (0.50-0.92)0.78 (0.56-0.88)NDDoppler0.86 (0.75-0.92)0.91 (0.85-0.94)0.80 (0.70 -0.87)ICC: intra-class correlation coefficient linear mixed model (random patient, fixed rating), absolute agreement. ND: Not DerterminedDisclosure of Interests:Lotte van de Stadt: None declared, Féline Kroon: None declared, Monique Reijnierse Grant/research support from: Dutch Arthritis Foundation, Désirée van der Heijde Consultant of: bbVie, Amgen, Astellas, AstraZeneca, Bayer, BMS, Boehringer Ingelheim, Celgene, Cyxone, Daiichi, Eisai, Eli-Lilly, Galapagos, Gilead, Glaxo-Smith-Kline, Janssen, Merck, Novartis, Pfizer, Regeneron, Roche, Sanofi, Takeda, UCB Pharma, Frits Rosendaal: None declared, Naghmeh Riyazi: None declared, R. de Slegte: None declared, Jende van Zeben: None declared, Cornelia Allaart: None declared, Margreet Kloppenburg Consultant of: Abbvie, Pfizer, Levicept, GlaxoSmithKline, Merck-Serono, Kiniksa, Flexion, Galapagos, Jansen, CHDR, Grant/research support from: MI-APPROACH, Marion Kortekaas: None declared


Author(s):  
Eglė Slabšinskienė ◽  
Andrej Gorelik ◽  
Aistė Kavaliauskienė ◽  
Apolinaras Zaborskis

Although burnout has been described as a serious hazard for personal and professional lives and has been surveyed among dentists in many countries, no study has been published regarding burnout among dentists in Lithuania. This study aimed to evaluate the burnout level among Lithuanian dentists and its association with demographic variables, job satisfaction, and other job-related variables. The data were collected among dentists online or during professional conferences while using an anonymous questionnaire (n = 380). The Maslach Burnout Inventory (MBI) was used to evaluate the burnout level. A Poisson regression was applied for the analysis of relationships between variables. We observed that 42.3% of the respondents had a high emotional exhaustion (EE) (95% confidence interval (CI): 37.4–42.3%), while 18.7% (95% CI: 15.0–22.9%) and 28,2% (95% CI: 23.4–32.6%) had high depersonalization (DP) and low personal accomplishment (PA), respectively. Nonetheless, 15.3% (95% CI: 11.8–18.9%) of the study population experienced a high level of overall burnout. An original job satisfaction index was elaborated. It was significantly associated with sum scores of all burnout dimensions: with the EE sum score (Ratio of Sum Score Means (RSSM) 1.54; 95% CI: 1.46–1.62), DP sum score (RSSM 1.59; 95% CI: 1.45–1.74), and PA sum score (RSSM 0.88; 95% CI: 0.84–0.92). It was concluded that Lithuanian dentists can be characterised by high burnout intensity and high prevalence of burnout, being especially evident in emotional exhaustion. The dentist with low job satisfaction appeared to be the most vulnerable to all burnout dimensions.


2002 ◽  
Vol 29 (2) ◽  
pp. 161-182 ◽  
Author(s):  
Lening Zhang ◽  
John W. Welte ◽  
William F. Wieczorek

The Buffalo Longitudinal Study of Young Men was used to address the possibility of a common factor underlying adolescent problem behaviors. First, a measurement model with a single first-order factor was compared to a model with three separate correlated first-order factors. The three-factor model was better supported, making it logical to conduct a second-order factor analysis, which confirmed the logic. Second, a substantive model was estimated in each of two waves with psychopathic state as the common factor predicting drinking, drug use, and delinquency. Psychopathic state was stable across waves. The theory that a single latent variable accounts for large covariance among adolescent problem behaviors was supported.


2012 ◽  
Vol 610-613 ◽  
pp. 3574-3579
Author(s):  
Cui Hua Wang ◽  
Sheng Long Yang ◽  
Chao Lu ◽  
Hong Xia Yu ◽  
Lian Shen Wang ◽  
...  

By using CoMFA and CoMSIA methods, the new quantitative structures of 25 aromatic hydrocarbons and the 96 hr-EC50 data with C. vulgaris have been investigated to obtain more detailed insight into the relationships between molecular structure and bioactivity. Compared to CoMFA (the average Q2LOO option =0.610), CoMSIA (the average Q2LOO =0.736) has the better results with robustness and stability. CoMSIA analysis using steric, electrostatic, hydrophobic, and H-bond donor and acceptor descriptors show H-bond donor is the common factor for influencing the toxicity, the steric and electrostatic descriptors are next and the hydrophobic descriptor was last. From the contour maps, the number of benzene ring is more crucial for the compound toxicity and the compounds with more benzene ring make toxicity increased. Under the same number of benzene ring, the kind of substituent group and the formed ability of H-bond are the other parameters to influencing the aromatic hydrocarbons toxicity.


1973 ◽  
Vol 33 (3) ◽  
pp. 891-900 ◽  
Author(s):  
Itai Zak

The main problem posed in this study is: What are the content and structure of Jewish and American identity? The Jewish-American Identity Scale, which was adapted and refined for this study, was administered in 1971 to four samples, totaling 1006 Jewish-American college students from various parts of the United States. Initially, factor analysis was applied to the separate samples. Intersample comparisons of factor structures indicated a high degree of congruency; consequently, the samples were combined for subsequent analyses. Factor analysis of the test scores demonstrated that most of the common factor variance was appropriated by two relatively orthogonal factors. Items dealing with American identity and those dealing with Jewish identity had medium to high loadings on the two respective factors. These findings supported the hypothesis of the duality and the orthogonality of dimensions of Jewish and American identity, and cast doubt on the notion forwarded by some researchers that Jewish-American identity forms a bipolar continuum.


2018 ◽  
Vol 11 (3) ◽  
pp. 590-616 ◽  
Author(s):  
Tiffany Judy ◽  
Michael T. Putnam ◽  
Jason Rothman

In this paper we take a closer look at the oft-touted divide between heritage language speakers and adult second language (L2) learners. Here, we explore whether some properties of language may display general effects across different populations of bilinguals, explaining, at least partially, why these two groups show some common differences when compared with monolinguals. To test this hypothesis, we adduce data from two unique populations of bilinguals: a moribund variety of heritage German spoken in southwestern Kansas (Moundridge Schweitzer German) and L2 adult learners of Spanish. Empirically, we investigate whether the confound of switch reference adds an additional cognitive burden to these bilinguals in licensing object control predicates in the former and referential subject pronouns in the latter. Our preliminary findings support the view that overarching concepts such as incomplete acquisition cannot capture the variability observed in these populations, thus further supporting approaches that interpret findings such as these to be the result of specific variables.


2016 ◽  
Author(s):  
Michael Maraun ◽  
Moritz Heene

There has come to exist within the psychometric literature a generalized belief to the effect that a determination of the level of factorial invariance that holds over a set of k populations Δj, j = 1..s, is central to ascertaining whether or not the common factor random variables ξj, j = 1..s, are equivalent. In the current manuscript, a technical examination of this belief is undertaken. The chief conclusion of the work is that, as long as technical, statistical senses of random variable equivalence are adhered to, the belief is unfounded.


2021 ◽  
pp. 122-146
Author(s):  
Matthew Johnson ◽  
Jeffrey M. Bradshaw

AbstractCurrent attempts to understand human-machine systems are complex and unwieldy. Multiple disciplines throw different concepts and constructs at the problem, but there is no agreed-to framework to assemble these interrelated moving parts into a coherent system. We propose interdependence as the common factor that unifies and explains these moving parts and undergirds the different terms people use to talk about them. In this chapter, we will describe a sound and practical theoretical framework based on interdependence that enables researchers to predict and explain experimental results in terms of interlocking relationships among well-defined operational principles. Our exposition is not intended to be exhaustive, but instead aims to describe the basic principles in a way that allows the gist to be grasped by a broad cross-disciplinary audience through simple illustrations.


2021 ◽  
Vol 12 ◽  
Author(s):  
Lotta-Katrin Pries ◽  
Gamze Erzin ◽  
Bart P. F. Rutten ◽  
Jim van Os ◽  
Sinan Guloksuz

To understand the role of environment in the pathoetiology of psychosis spectrum disorders, research has thus far mainly investigated the effects of single exposures in isolation, such as the association between cannabis use and schizophrenia. However, this approach fails to acknowledge the complexity of the exposome, which represents the totality of the environment involving many exposures over an individual's lifetime. Therefore, contemporary research adopting the exposome paradigm has aimed at capturing the combined effect of different environmental exposures by utilizing an aggregate environmental vulnerability score for schizophrenia: the exposome score for schizophrenia. Here, we attempt to provide a comprehensive overview of studies applying the exposome score for schizophrenia. First, we describe several approaches estimating exposomic vulnerability for schizophrenia, which falls into three categories: simple environmental sum scores (sum of dichotomized exposures), meta-analysis-based environmental risk score (sum scores weighted by estimates from meta-analyses), and the exposome score (sum score weighted by estimates from an analysis in an independent training dataset). Studies show that the exposome score for schizophrenia that assumes interdependency of exposures performs better than scores that assume independence of exposures, such as the environmental sum score and the meta-analysis-based environmental risk score. Second, we discuss findings on the pluripotency of the exposome score for schizophrenia and summarize findings from gene-environment studies using the exposome score for schizophrenia. Finally, we discuss possible scientific, clinical, and population-based applications of exposome score for schizophrenia, as well as limitations and future directions for exposome research to understand the etiology of psychosis spectrum disorders.


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