Browsing by Subject "BIAS"

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  • Awad, Susanne F.; Dargham, Soha R.; Toumi, Amine A.; Dumit, Elsy M.; El-Nahas, Katie G.; Al-Hamaq, Abdulla O.; Critchley, Julia A.; Tuomilehto, Jaakko; Al-Thani, Mohamed H. J.; Abu-Raddad, Laith J. (2021)
    We developed a diabetes risk score using a novel analytical approach and tested its diagnostic performance to detect individuals at high risk of diabetes, by applying it to the Qatari population. A representative random sample of 5,000 Qataris selected at different time points was simulated using a diabetes mathematical model. Logistic regression was used to derive the score using age, sex, obesity, smoking, and physical inactivity as predictive variables. Performance diagnostics, validity, and potential yields of a diabetes testing program were evaluated. In 2020, the area under the curve (AUC) was 0.79 and sensitivity and specificity were 79.0% and 66.8%, respectively. Positive and negative predictive values (PPV and NPV) were 36.1% and 93.0%, with 42.0% of Qataris being at high diabetes risk. In 2030, projected AUC was 0.78 and sensitivity and specificity were 77.5% and 65.8%. PPV and NPV were 36.8% and 92.0%, with 43.0% of Qataris being at high diabetes risk. In 2050, AUC was 0.76 and sensitivity and specificity were 74.4% and 64.5%. PPV and NPV were 40.4% and 88.7%, with 45.0% of Qataris being at high diabetes risk. This model-based score demonstrated comparable performance to a data-derived score. The derived self-complete risk score provides an effective tool for initial diabetes screening, and for targeted lifestyle counselling and prevention programs.
  • Batcha, Aarif M. N.; Bamopoulos, Stefanos A.; Kerbs, Paul; Kumar, Ashwini; Jurinovic, Vindi; Rothenberg-Thurley, Maja; Ksienzyk, Bianka; Philippou-Massier, Julia; Krebs, Stefan; Blum, Helmut; Schneider, Stephanie; Konstandin, Nikola; Bohlander, Stefan K.; Heckman, Caroline; Kontro, Mika; Hiddemann, Wolfgang; Spiekermann, Karsten; Braess, Jan; Metzeler, Klaus H.; Greif, Philipp A.; Mansmann, Ulrich; Herold, Tobias (2019)
    The patho-mechanism of somatic driver mutations in cancer usually involves transcription, but the proportion of mutations and wild-type alleles transcribed from DNA to RNA is largely unknown. We systematically compared the variant allele frequencies of recurrently mutated genes in DNA and RNA sequencing data of 246 acute myeloid leukaemia (AML) patients. We observed that 95% of all detected variants were transcribed while the rest were not detectable in RNA sequencing with a minimum read-depth cut-off (10x). Our analysis focusing on 11 genes harbouring recurring mutations demonstrated allelic imbalance (AI) in most patients. GATA2, RUNX1, TET2, SRSF2, IDH2, PTPN11, WT1, NPM1 and CEBPA showed significant AIs. While the effect size was small in general, GATA2 exhibited the largest allelic imbalance. By pooling heterogeneous data from three independent AML cohorts with paired DNA and RNA sequencing (N = 253), we could validate the preferential transcription of GATA2-mutated alleles. Differential expression analysis of the genes with significant AI showed no significant differential gene and isoform expression for the mutated genes, between mutated and wild-type patients. In conclusion, our analyses identified AI in nine out of eleven recurrently mutated genes. AI might be a common phenomenon in AML which potentially contributes to leukaemogenesis.
  • Dhami, Sangeeta; Nurmatov, Ulugbek; Pajno, Giovanni Battista; Fernandez-Rivas, Montserrat; Muraro, Antonella; Roberts, Graham; Akdis, Cezmi; Alvaro-Lozano, Montserrat; Beyer, Kirsten; Bindslev-Jensen, Carsten; Burks, Wesley; du Toit, George; Ebisawa, Motohiro; Eigenmann, Philippe; Knol, Edward; Mäkelä, Mika; Nadeau, Kari Christine; O'Mahony, Liam; Papadopoulos, Nikolaos; Poulsen, Lars; Sackesen, Cansin; Sampson, Hugh; Santos, Alexandra; van Ree, Ronald; Timmermans, Frans; Sheikh, Aziz (2016)
    Background: The European Academy of Allergy and Clinical Immunology (EAACI) is in the process of developing the EAACI Guidelines for Allergen Immunotherapy (AIT) for IgE-mediated food allergy. We seek to critically assess the effectiveness, cost-effectiveness and safety of AIT in IgE-mediated food allergy. Methods: We will undertake a systematic review, which will involve searching international biomedical databases for published, in progress and unpublished evidence. Studies will be independently screened against pre-defined eligibility criteria and critically appraised using established instruments. Data will be descriptively and, if possible and appropriate, quantitatively synthesised. Discussion: The findings from this review will be used to inform the development of recommendations for EAACI's Guidelines on AIT.
  • Perrier, F.; Viallon, V.; Ambatipudi, S.; Ghantous, A.; Cuenin, C.; Hernandez-Vargas, H.; Chajes, V.; Baglietto, L.; Matejcic, M.; Moreno-Macias, H.; Kühn, T.; Boeing, H.; Karakatsani, A.; Kotanidou, A.; Trichopoulou, A.; Sieri, S.; Panico, S.; Fasanelli, F.; Dolle, M.; Onland-Moret, C.; Sluijs, I.; Weiderpass, E.; Quiros, J. R.; Agudo, A.; Huerta, J. M.; Ardanaz, E.; Dorronsoro, M.; Tong, T. Y. N.; Tsilidis, K.; Riboli, E.; Gunter, M. J.; Herceg, Z.; Ferrari, P.; Romieu, I. (2019)
    BackgroundThere is increasing evidence that folate, an important component of one-carbon metabolism, modulates the epigenome. Alcohol, which can disrupt folate absorption, is also known to affect the epigenome. We investigated the association of dietary folate and alcohol intake on leukocyte DNA methylation levels in the European Prospective Investigation into Cancer and Nutrition (EPIC) study. Leukocyte genome-wide DNA methylation profiles on approximately 450,000 CpG sites were acquired with Illumina HumanMethylation 450K BeadChip measured among 450 women control participants of a case-control study on breast cancer nested within the EPIC cohort. After data preprocessing using surrogate variable analysis to reduce systematic variation, associations of DNA methylation with dietary folate and alcohol intake, assessed with dietary questionnaires, were investigated using CpG site-specific linear models. Specific regions of the methylome were explored using differentially methylated region (DMR) analysis and fused lasso (FL) regressions. The DMR analysis combined results from the feature-specific analysis for a specific chromosome and using distances between features as weights whereas FL regression combined two penalties to encourage sparsity of single features and the difference between two consecutive features.ResultsAfter correction for multiple testing, intake of dietary folate was not associated with methylation level at any DNA methylation site, while weak associations were observed between alcohol intake and methylation level at CpG sites cg03199996 and cg07382687, with q(val)=0.029 and q(val)=0.048, respectively. Interestingly, the DMR analysis revealed a total of 24 and 90 regions associated with dietary folate and alcohol, respectively. For alcohol intake, 6 of the 15 most significant DMRs were identified through FL.ConclusionsAlcohol intake was associated with methylation levels at two CpG sites. Evidence from DMR and FL analyses indicated that dietary folate and alcohol intake may be associated with genomic regions with tumor suppressor activity such as the GSDMD and HOXA5 genes. These results were in line with the hypothesis that epigenetic mechanisms play a role in the association between folate and alcohol, although further studies are warranted to clarify the importance of these mechanisms in cancer.
  • Beier, Sebastian; Himmelbach, Axel; Colmsee, Christian; Zhang, Xiao-Qi; Barrero, Roberto A.; Zhang, Qisen; Li, Lin; Bayer, Micha; Bolser, Daniel; Taudien, Stefan; Groth, Marco; Felder, Marius; Hastie, Alex; Simkova, Hana; Stankova, Helena; Vrana, Jan; Chan, Saki; Munoz-Amatriain, Maria; Ounit, Rachid; Wanamaker, Steve; Schmutzer, Thomas; Aliyeva-Schnorr, Lala; Grasso, Stefano; Tanskanen, Jaakko; Sampath, Dharanya; Heavens, Darren; Cao, Sujie; Chapman, Brett; Dai, Fei; Han, Yong; Li, Hua; Li, Xuan; Lin, Chongyun; McCooke, John K.; Tan, Cong; Wang, Songbo; Yin, Shuya; Zhou, Gaofeng; Poland, Jesse A.; Bellgard, Matthew I.; Houben, Andreas; Dolezel, Jaroslav; Ayling, Sarah; Lonardi, Stefano; Langridge, Peter; Muehlbauer, Gary J.; Kersey, Paul; Clark, Matthew D.; Caccamo, Mario; Schulman, Alan H.; Platzer, Matthias; Close, Timothy J.; Hansson, Mats; Zhang, Guoping; Braumann, Ilka; Li, Chengdao; Waugh, Robbie; Scholz, Uwe; Stein, Nils; Mascher, Martin (2017)
    Barley (Hordeum vulgare L.) is a cereal grass mainly used as animal fodder and raw material for the malting industry. The map-based reference genome sequence of barley cv. `Morex' was constructed by the International Barley Genome Sequencing Consortium (IBSC) using hierarchical shotgun sequencing. Here, we report the experimental and computational procedures to (i) sequence and assemble more than 80,000 bacterial artificial chromosome (BAC) clones along the minimum tiling path of a genome-wide physical map, (ii) find and validate overlaps between adjacent BACs, (iii) construct 4,265 non-redundant sequence scaffolds representing clusters of overlapping BACs, and (iv) order and orient these BAC clusters along the seven barley chromosomes using positional information provided by dense genetic maps, an optical map and chromosome conformation capture sequencing (Hi-C). Integrative access to these sequence and mapping resources is provided by the barley genome explorer (BARLEX).
  • Euclid Collaboration; Paykari, P.; Keihänen, E.; Kurki-Suonio, H.; Kirkpatrick, C. C. (2020)
    Aims. Our aim is to quantify the impact of systematic effects on the inference of cosmological parameters from cosmic shear.Methods. We present an "end-to-end" approach that introduces sources of bias in a modelled weak lensing survey on a galaxy-by-galaxy level. We propagated residual biases through a pipeline from galaxy properties at one end to cosmic shear power spectra and cosmological parameter estimates at the other end. We did this to quantify how imperfect knowledge of the pipeline changes the maximum likelihood values of dark energy parameters.Results. We quantify the impact of an imperfect correction for charge transfer inefficiency and modelling uncertainties of the point spread function for Euclid, and find that the biases introduced can be corrected to acceptable levels.
  • Girardello, Marco; Chapman, Anna; Dennis, Roger; Kaila, Lauri; Borges, Paulo; Santangeli, Andrea (2019)
    Species distribution data are crucial for assessing the conservation status of species (red listing, IUCN) and implementing international conservation targets, such as those set by the International Convention on Biological Diversity. Although there have been a number of efforts aimed at aggregating biodiversity data, information on the distribution of many taxa is still scanty (i.e. the Wallacean Shortfall). In this study, we use a large database, including over 19 million species occurrence records, to identify knowledge gaps in biodiversity inventories for butterfly records at a global level. Bayesian hierarchical spatial models were used to quantify the relationship between gaps in inventory completeness and the density of roads, protected areas and elevational range, the former variable being a proxy for accessibility, the latter two for attractiveness to recorders. Our results show that despite > 100 years of butterfly sampling, knowledge of the distribution of butterflies is still limited in tropical areas. The results revealed that gaps in butterfly inventories are largely concentrated in areas of low elevational range, low density of protected areas and low road density. We conclude that the Wallacean Shortfall is a problem even for one of the best studied insect groups. In the light of these data limitations, we discuss prospects for filling gaps in butterfly inventories at the global scale within relatively short time frames. We argue that a combination of citizen science and quantitative tools may help to fill knowledge gaps and inform conservation decisions.
  • Rolf, T.; Pesonen, L. J. (2018)
    Paleomagnetism is a key method to reconstruct the Earth's paleogeography and thus essential for understanding tectonic evolution, but it assumes that the Earth's magnetic field structure has always averaged to a geocentric axial dipole (GAD). The GAD hypothesis may be tested using the observed inclination frequency distribution, but only if continents sampled all of the Earth's latitudes uniformly, which is not known. Here, we provide new insight into the uniform sampling problem by employing a suite of 3D spherical mantle convection models that feature the self-consistent evolution of mantle convection, plate tectonics and continental drift over timescales of 2 Gyr or more. Our results suggest that continents unlikely sampled latitudes uniformly during the Phanerozoic, consistent with previous suggestions. This finding is robust for a variety of geodynamic evolutions with different mantle and lithosphere structures, at least in the absence of true polar wander. For longer sampling durations, uniform sampling typically becomes more feasible, but may only be achieved with confidence after time scales of minimum 1.3 Gyr. This time scale depends on the structure of the mantle and lithosphere and may be shortest when upper mantle viscosity is small such that reduced resistive drag at the cratonic base allows for faster continental drift. Weak plates (low plastic yield strength) promote more dispersed continent configurations, which tends to facilitate uniform sampling. If these conditions are not met, the uniform sampling time scale can easily exceed several billion years. Even the minimum estimate of 1.3 Gyr challenges the validity of using the Phanerozoic inclination frequency distribution to infer the past average magnetic field structure; the approach could however still be applicable using the Precambrian inclination record. (C) 2018 Elsevier B.V. All rights reserved.
  • Puurtinen, Marjaana; Hoppu, Ulla; Puputti, Sari; Mattila, Saila; Sandell, Mari (2021)
    Mobile eye tracking (MET) enables the recording of gaze data in less-controlled research environments, but best practices for its use in studies about visual attention to foods are yet undetermined. This study supports the building of a coherent framework for this methodological approach by discussing current eye-tracking trends in the field, applying MET in an experiment with real foods, and proposing methodological approaches for future studies. In the experiment, 32 female participants' gaze data were recorded while they inspected a salad buffet for 20 s and then assembled a self-choice salad. The functionality of fixation, scanpath, and pupil size measures was investigated, focusing on associations between eye movements and food item color and position, eye movements and food item preference, and pupil size and selected measures. Dish placement affected the relative amount of visits to a single food item, whereas food item color and preference were not associated with the examined measures. The pupil-size measure did not function with the elderly participants. Importantly, a simple cluster analysis, based on a scanpath and a food selection measure, helped to illustrate different profiles of food view and selection. It was determined that food item position should be carefully considered in MET studies involving real foods, and scanpath measures could be useful in bringing forth behavioral differences that are not revealed by fixation parameters alone. Importantly, identifying "attention-action" profiles by combining eyetracking and other measures seems to be a fruitful way of approaching individual differences in food viewing and selection.
  • Kudinov, A. A.; Mantysaari, E. A.; Aamand, G. P.; Uimari, P.; Stranden, I. (2020)
  • Cornish, Alex J.; Law, Philip J.; Timofeeva, Maria; Palin, Kimmo; Farrington, Susan M.; Palles, Claire; Jenkins, Mark A.; Casey, Graham; Brenner, Hermann; Chang-Claude, Jenny; Hoffmeister, Michael; Kirac, Iva; Maughan, Tim; Brezina, Stefanie; Gsur, Andrea; Cheadle, Jeremy P.; Aaltonen, Lauri A.; Tomlinson, Ian; Dunlop, Malcolm G.; Houlston, Richard S. (2020)
    Background Epidemiological studies have linked lifestyle, cardiometabolic, reproductive, developmental, and inflammatory factors to the risk of colorectal cancer. However, which specific factors affect risk and the strength of these effects are unknown. We aimed to examine the relationship between potentially modifiable risk factors and colorectal cancer. Methods We used a random-effects model to examine the relationship between 39 potentially modifiable risk factors and colorectal cancer in 26 397 patients with colorectal cancer and 41 481 controls (ie, people without colorectal cancer). These population data came from a genome-wide association study of people of European ancestry, which was amended to exclude UK BioBank data. In the model, we used genetic variants as instruments via two-sample mendelian randomisation to limit bias from confounding and reverse causation. We calculated odds ratios per genetically predicted SD unit increase in each putative risk factor (OR SD) for colorectal cancer risk. We did mendelian randomisation Egger regressions to identify evidence of potential violations of mendelian randomisation assumptions. A Bonferroni-corrected threshold of p=1.3 x 10(-3) was considered significant, and p values less than 0.05 were considered to be suggestive of an association. Findings No putative risk factors were significantly associated with colorectal cancer risk after correction for multiple testing. However, suggestive associations with increased risk were noted for genetically predicted body fat percentage (OR SD 1.14 [95% CI 1.03-1.25]; p=0.0086), body-mass index (1.09 [1.01-1.17]; p=0.023), waist circumference (1.13 [1.02-1.26]; p=0.018), basal metabolic rate (1.10 [1.03-1.18]; p=0.0079), and concentrations of LDL cholesterol (1.14 [1.04-1.25]; p=0.0056), total cholesterol (1.09 [1.01-1.18]; p=0.025), circulating serum iron (1.17 [1.00-1.36]; p=0.049), and serum vitamin B12 (1.21 [1.04-1.42]; p=0.016), although potential pleiotropy among genetic variants used as instruments for vitamin B12 constrains the finding. A suggestive association was also noted between adult height and increased risk of colorectal cancer (OR SD 1.04 [95% CI 1.00-1.08]; p=0.032). Low blood selenium concentration had a suggestive association with decreased risk of colorectal cancer (OR SD 0.85 [95% CI 0.75-0.96]; p=0.0078) based on a single variant, as did plasma concentrations of interleukin-6 receptor subunit a (also based on a single variant; 0.98 [0.96-1.00]; p=0.035). Risk of colorectal cancer was not associated with any sex hormone or reproductive factor, serum calcium, or circulating 25-hydroxyvitamin D concentrations. Interpretation This analysis identified several modifiable targets for primary prevention of colorectal cancer, including lifestyle, obesity, and cardiometabolic factors, that should inform public health policy. Copyright (C) 2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license.
  • Di Battista, Silvia; Pivetti, Monica; Vainio, Annukka; Berti, Chiara (2020)
    Sacred values are moral foundations that may make public and political debates among groups hard to resolve. A taboo trade-off framework offers the opportunity of measuring the inviolability and the "sacralization" of moral foundations. In this study, moral foundations in a taboo trade-off framework were assessed in a convenience sample of Italians (N = 224) using a new measure to assess sacred values, the Omission as a Compromise on Moral Foundations scale (OC-MF). The OC-MF measures the willingness of individuals to omit moral foundations in exchange for money. It was predicted that Italian center and left-wing participants would be less willing to compromise individualizing moral foundations as opposed to binding ones, and that center and right-wing participants would be less willing to compromise on binding moral foundations than left-wing participants. Confirmatory Factor Analyses demonstrated the two-factor structure of the OC-MF: individualizing and binding. As predicted, Repeated Measures Anova showed that political orientation was related with differential adoptions of moral foundations as sacred values, with center and left-wing participants refusing to compromise more on individualizing than on binding moral foundations. Moreover, left-wing participants were more willing to compromise on binding moral foundations than center and right-wing participants. The OC-MF shows the hypothesized differences between Italian political groups and offers a new understanding of moral reasoning. These findings provide opportunities for improving ideological debates concerning sacred values.
  • Pena-Peniche, Alexander; Mota-Vargas, Claudio; Garcia-Arroyo, Michelle; MacGregor-Fors, Ian (2021)
    Biological invasions occur when individuals of alien species establish and colonize new locations. The House Sparrow (Passer domesticus) is one of the most widespread invasive birds, native to Eurasia and North Africa, and has successfully invaded many regions from across the world. The House Sparrow was successfully introduced in 1852 into North America and quickly invaded most of the North American continent, except the Florida Peninsula. Currently, the species is found throughout agricultural and urban landscapes of North America except the Yucatan Peninsula. We analyzed the invasion process of the House Sparrow in order to determine why it is absent from the Yucatan Peninsula. For this, we focused our assessment on historical records of the species together with climatic variables. Using an ordination analysis, we compared the climatic space of the North American records for the House Sparrow with that of the Yucatan Peninsula, as well as those before and after the Florida Peninsula invasion, which took sparrows longer to fully colonize. We found that climate may represent an important driver in the process of invasion in the North American invasion of House Sparrows, probably delaying the Florida invasion, and so far, preventing the Yucatan Peninsula invasion. Our results suggest that the absence of the House Sparrow in the Yucatan Peninsula could be a temporal delay, as occurred in the Florida Peninsula; yet, climatic conditions in the Yucatan Peninsula show important differences from those of the Florida Peninsula. Given the species' plasticity and generalist life history traits, it is possible that the House Sparrow may overcome present climatic restrictions and invade the Yucatan Peninsula if proper management is not set in action.
  • Mustonen, Virpi; Tuunainen, Juha; Pohjola, Pasi; Hakkarainen, Kai (2017)
    The present study analyses data collected from a series of developmental seminars in a fingerprint laboratory during which fingerprint examiners jointly discussed and developed their work processes, analytical methods, decision-making criteria and rules of documentation. The analysed organizational development took place in the context of moving from paper to digital documentation and from individually to collectively mastered work process. The fingerprint examiners who participated in the seminar series jointly reflected on their existing professional rules and operational practices, improvement of which was called for to facilitate organizational learning. The analysed data set consists of 10 audio-recorded developmental seminars with written documents as well as notes and decisions that were made during the seminar. The results of the study will reveal the complex ways in which the fingerprint examiners share their practical professional knowledge and collectively create decision-making criteria and rules of investigative practices so as to adapt their work practices to the changing quality requirements, evolving international standards and digitalization of research documentation.
  • Talovic, Merhunisa; Sheikh, Aziz; McCleary, Nicola; Erkkola, Maijaliisa; Kaila, Minna; Virtanen, Suvi M.; Nwaru, Bright I. (2017)
    Introduction Pregnancy is associated with several hormonal changes which influence the developing fetus. Variations in maternal endogenous hormones and prepregnancy use of hormonal preparations have been linked to asthma and allergy in the offspring, but findings are inconsistent. We plan to undertake a systematic review to synthesise the evidence on the association between endogenous and exogenous maternal sex hormones and the risk of asthma and allergy in the offspring. Methods and analysis We will search Medline, Embase, Cochrane Library, Institute of Scientific Information Web of Science, Cumulative Index of Nursing and Allied Health, Scopus, Google Scholar, Allied and Complementary Medicine Database, Global Health, Psychological Information (PsycINFO), Centre for Agriculture and Bioscience (CAB) International and WHO Global Health Library from inception until 2016 to identify relevant studies on the topic. Additional studies will be identified by searching databases of proceedings of international conferences, contacting international experts in the field and searching the references cited in identified studies. We will include analytical epidemiological studies. Two researchers will independently screen identified studies, undertake data extraction and assess risk of bias in eligible studies, while a third reviewer will arbitrate any disagreement. We will use the Effective Public Health Practice Project tool to assess the risk of bias in the studies. We will perform a random-effects meta-analysis to synthesise the evidence. We will use the Grading of Recommendations Assessment, Development and Evaluation approach to rate the strength and quality of the overall evidence with respect to each outcome. Ethics and dissemination Ethical approval is not required since the study is a systematic review of published literature. Our findings will be reported in a peer-reviewed scientific journal.
  • Mänty, Minna; Lallukka, Tea; Lahti, Jouni; Pietilainen, Olli; Laaksonen, Mikko; Lahelma, Eero; Rahkonen, Ossi (2017)
    Background: Sickness absence has been shown to be a risk marker for severe future health outcomes, such as disability retirement and premature death. However, it is poorly understood how all-cause and diagnosis-specific sickness absence is reflected in subsequent physical and mental health functioning over time. The aim of this study was to examine the association of all-cause and diagnosis-specific sickness absence with subsequent changes in physical and mental health functioning among ageing municipal employees. Methods: Prospective survey and register data from the Finnish Helsinki Health Study and the Social Insurance Institution of Finland were used. Register based records for medically certified all-cause and diagnostic-specific sickness absence spells (> 14 consecutive calendar days) in 2004-2007 were examined in relation to subsequent physical and mental health functioning measured by Short-Form 36 questionnaire in 2007 and 2012. In total, 3079 respondents who were continuously employed over the sickness absence follow-up were included in the analyses. Repeated-measures analysis was used to examine the associations. Results: During the 3-year follow-up, 30% of the participants had at least one spell of medically certified sickness absence. All-cause sickness absence was associated with lower subsequent physical and mental health functioning in a stepwise manner: the more absence days, the poorer the subsequent physical and mental health functioning. These differences remained but narrowed slightly during the follow-up. Furthermore, the adverse association for physical health functioning was strongest among those with sickness absence due to diseases of musculoskeletal or respiratory systems, and on mental functioning among those with sickness absence due to mental disorders. Conclusions: Sickness absence showed a persistent adverse stepwise association with subsequent physical and mental health functioning. Evidence on health-related outcomes after long-term sickness absence may provide useful information for targeted interventions to promote health and workability.
  • Adamo, Martino; Chialva, Matteo; Calevo, Jacopo; Bertoni, Filippo; Dixon, Kingsley; Mammola, Stefano (2021)
    Despite the perception that plant science focuses on strictly scientific criteria, this analysis finds that there is an aesthetic bias in regards to which plants, based on certain traits, receive more research attention. Scientists' research interests are often skewed toward charismatic organisms, but quantifying research biases is challenging. By combining bibliometric data with trait-based approaches and using a well-studied alpine flora as a case study, we demonstrate that morphological and colour traits, as well as range size, have significantly more impact on species choice for wild flowering plants than traits related to ecology and rarity. These biases should be taken into account to inform more objective plant conservation efforts.
  • Jylkka, Jussi; Soveri, Anna; Wahlstrom, Jenny; Lehtonen, Minna; Rodriguez-Fornells, Antoni; Laine, Matti (2017)
    We examined the relationship between self-reported everyday language switching experience and the performance of early bilinguals in tasks measuring different executive functions. Our participants were Finnish-Swedish early bilinguals, aged 16-41 years (N=66, Experiment 1) and 18-69 years (N=111, Experiment 2). An earlier study using a sample from a similar population discovered a negative relationship between self-reported language switching and a mixing cost in error rates in a number-letter task. This finding was not replicated. Instead, we found that a higher rate of reported contextual language switching predicted larger switching cost reaction times in the number-letter task, and that a higher rate of reported unintended language switches predicted larger error rates in a spatial n-back task. We conclude that these results likely reflect individual differences in executive skills, and do not provide evidence for the hypothesis that language switching trains executive functions.
  • Chen, Sam Li-Sheng; Fann, Jean Ching-Yuan; Sipeky, Csilla; Yang, Teng-Kai; Chiu, Sherry Yueh-Hsia; Yen, Amy Ming-Fang; Laitinen, Virpi; Tammela, Teuvo L. J.; Stenman, Ulf-Håkan; Auvinen, Anssi; Schleutker, Johanna; Chen, Hsiu-Hsi (2019)
    Purpose:Combined information on single nucleotide polymorphisms and prostate specific antigen offers opportunities to improve the performance of screening by risk stratification. We aimed to predict the risk of prostate cancer based on prostate specific antigen together with single nucleotide polymorphism information.Materials and Methods:We performed a prospective study of 20,575 men with prostate specific antigen testing and 4,967 with a polygenic risk score for prostate cancer based on 66 single nucleotide polymorphisms from the Finnish population based screening trial of prostate cancer and 5,269 samples of 7 single nucleotide polymorphisms from the Finnish prostate cancer DNA study. A Bayesian predictive model was built to estimate the risk of prostate cancer by sequentially combining genetic information with prostate specific antigen compared with prostate specific antigen alone in study subjects limited to those with prostate specific antigen 4 ng/ml or above.Results:The posterior odds of prostate cancer based on 7 single nucleotide polymorphisms together with the prostate specific antigen level ranged from 3.7 at 4 ng/ml, 14.2 at 6 and 40.7 at 8 to 98.2 at 10 ng/ml. The ROC AUC was elevated to 88.8% (95% CI 88.6-89.1) for prostate specific antigen combined with the risk score based on 7 single nucleotide polymorphisms compared with 70.1% (95% CI 69.6-70.7) for prostate specific antigen alone. It was further escalated to 96.7% (95% CI 96.5-96.9) when all prostate cancer susceptibility polygenes were combined.Conclusions:Expedient use of multiple genetic variants together with information on prostate specific antigen levels better predicts the risk of prostate cancer than prostate specific antigen alone and allows for higher prostate specific antigen cutoffs. Combined information also provides a basis for risk stratification which can be used to optimize the performance of prostate cancer screening.
  • ITALSGEN Consortium; Int ALS Genomics Consortium; Bandres-Ciga, Sara; Tienari, Pentti J. (2019)
    Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between >700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. The outcome data came from the recently published ALS GWAS involving 20,806 cases and 59,804 controls. Multivariate analyses, genetic risk profiling, and Bayesian colocalization analyses were also performed. Results We have shown, by linkage disequilibrium score regression, that ALS shares polygenic risk genetic factors with a number of traits and conditions, including positive correlations with smoking status and moderate levels of physical activity, and negative correlations with higher cognitive performance, higher educational attainment, and light levels of physical activity. Using Mendelian randomization, we found evidence that hyperlipidemia is a causal risk factor for ALS and localized putative functional signals within loci of interest. Interpretation Here, we have developed a public resource () which we hope will become a valuable tool for the ALS community, and that will be expanded and updated as new data become available. Shared polygenic risk exists between ALS and educational attainment, physical activity, smoking, and tenseness/restlessness. We also found evidence that elevated low-desnity lipoprotein cholesterol is a causal risk factor for ALS. Future randomized controlled trials should be considered as a proof of causality. Ann Neurol 2019;85:470-481