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AbstractThis qualitative study delves into the interplay between coaching leadership and the utilization of strengths at both individual and team levels. Despite the acknowledged significance of this interplay, there is a scarcity of empirical qualitative research in this domain. Thus, this study aimed to address this gap by examining the prevalence and effectiveness of coaching leadership practices and strength use. Through a qualitative research approach, data from 17 supervisors and 23 employees within elderly care units were analyzed using template analysis. The outcomes of this study underscore the pivotal role of leadership in facilitating the application of strengths within the workplace, highlighting the interconnectedness of individual and team-level strength utilization. The findings of this study reveal that leadership plays a pivotal role in enabling and facilitating strength use at work, and that individual- and team-level strength use are linked. Leaders need to personally know their team members at the individual level, empower teams to work autonomously, and create a safe, open atmosphere for diversity at the team level. Adopting qualitative methodology, the study comprehends how coaching leadership facilitates strength utilization. This nuanced approach contributes to literature, enhancing our understanding of leadership’s role in optimizing strengths in a professional context.

Eldercare workers experience higher levels of moral distress than other health and social care service workers. Moral distress is a psychological response to a morally challenging event. Very little is known about moral distress in the context of eldercare and about the mechanisms of preventing or mitigating moral distress. This qualitative study was conducted as part of the “Ensuring the availability of staff and the attractiveness of the sector in eldercareservices” project in Finland in 2021. The data were from 39 semi-structured interviews. This qualitative interview data were examined using two-stage content analysis. The key finding of this study, as reported by eldercare professionals, is that strategies to mitigate moral distress can be found at all organizational levels : organizational, workplace and individual. The tools that emerged from the interviews fell into four main categories: 1) organizational support and education 2) peer support 3) improving self-care and competence and 4) defending patients. The main identified categories confirmed the earlier findings but the qualitative, rich research interview data provided new insights into a little-studied topic: mitigating moral distress in eldercare. The main conclusion is that, in order to mitigate moral distress, ethical competence needs to be strengthened at all organizational levels.

Abstract Background Psychosocial job stressor studies usually examine one exposure at a time and focus on individual workers. In this study we examined the accumulation of work stressors in work units and its association with psychological distress (PD) on work-unit level. We also investigated whether high workplace social capital modifies the effect. Methods We examined survey responses from 813 Finnish health and social services (HSS) work units, comprising 9 502 employees, in a cross-sectional study design. The survey was conducted in 2021. We calculated odds ratios for the association between accumulating job stressors and PD. We also analyzed the interaction between work stressors and the effect modification of high workplace social capital. Results We found that HSS work units with high percentage of employees having high job demands and low rewards (OR 7.2, 95% CI 3.7, 13.8) have an increased risk of higher PD in the work unit. We also found indication of high social capital possibly modifying the effect of job stressors on PD. The results suggest that accumulated job stressors are associated with PD on work unit level, with excess risk for PD compared to the stressors acting separately. Conclusions The results indicate that the effect of accumulating job stressors should be further studied on work-unit level. Participatory organizational-level and work-unit level interventions to tackle job stressors and to improve workplace social capital are warranted.

Sosiaali- ja terveysala on kohdannut 2020-luvulla suuria muutoksia ja haasteita, mikä on kuormittanut alan esihenkilöitä. Hoitotyön esihenkilöiden työnkuvat ovat laajentuneet ja käyneet epäselviksi. Tutkimme vuonna 2022 kerättyjen hoitotyön esihenkilöiden haastattelujen (N=20) pohjalta, millaiset edellytykset esihenkilöillä on rajata ja hallita omaa työtään. Tarkastelemme rajojen hallintaa vaikutusvallan käsitteen pohjalta sisällönanalyysiä käyttäen. Hoitotyön esihenkilöiden vaikutusvalta näyttäytyy hyvin kapeana, kun puhutaan omista työtehtävistä suhteessa organisaation rakenteisiin. Työtä on liikaa, työt sanellaan ylhäältä päin ja oma työnkuva on epäselvä, jolloin mahdollisuus tehdä oma työ hyvin vaarantuu. Sen sijaan suhteessa kollegoihin työ koetaan yhteisenä asiana, josta otetaan kollektiivisesti vastuuta. Työtovereiden kanssa keskustellaan työn rajoista, töitä tasataan ja etsitään yhdessä ratkaisuja liiallisen työkuorman hallintaan. Suhteessa omaan itseen työn rajaaminen on puolestaan itsenäisiä päätöksiä, rohkeutta ja joskus hallitsematonta ajatusten virtaa, mutta myös jotakin, jota voi oppia. Työn rajaaminen on kokemuksen myötä karttunutta ammattitaitoa, ymmärrystä nähdä olennainen ja hyväksyä se, että jotain tärkeää rajautuu ajoittain ulkopuolelle.

Tutkimus käsittelee vanhustyössä työskentelevien hoitajien moraalista toimijuutta moraalisissa ristiriitatilanteissa. Moraalisen toimijuuden rajoittumisen on esitetty olevan keskeinen tekijä eettisen kuormituksen synnyssä. Eettinen kuormitus on yhdistetty esimerkiksi heikentyneeseen työhyvinvointiin ja hoidon laatuun sekä hoitoalan pito- ja vetovoimaisuuden vähenemiseen. Tutkimuskysymys on: miten vanhustyössä työskentelevien hoitajien kohtaamat moraaliset ristiriidat voivat rajoittaa heidän moraalista toimijuuttaan? Aineisto muodostui 40:n vanhustyössä työskentelevän hoitajan ja esihenkilön teemahaastatteluista. Aineisto analysoitiin teorialähtöisellä sisällönanalyysilla, hyödyntäen Hallamaan muotoilua moraalisesta toimijuudesta. Tutkimuksen päätulos on, että hoitajien moraalinen toimijuus näyttäytyi varsin rajoittuneena. Heidän mahdollisuutensa asettaa tavoitteita moraaliselle toiminnalle, tehdä rationaalisia moraalisia päätöksiä ja toimia moraalisesti oikein rajoittuivat. Johtopäätöksenä esitetään, että vanhustyössä tulee luoda riittävät edellytykset hoitajien moraaliselle toimijuudelle.

Vanhuspalveluissa työn kuormitus on ollut suurta jo pidemmän aikaa, mikä korostaa työssä jaksamisen merkitystä. Tutkimuksemme tuottaa tietoa työn kuormitus­ ja voimavaratekijöistä vanhuspalveluissa ja niiden suhteesta huonoon työkykyyn. Tietoa voidaan hyödyntää ylläpidettäessä vanhuspalveluissa työskentelevien työkykyä ja jaksamista. Aineistona käytimme vuonna 2020 julkisista sosiaali­ ja terveysalan (sote) organisaatioista (sairaanhoitopiirejä ja kuntayhtymiä) kerättyä kyselyaineistoa (n = 22 528). Vastaajista 4 347 työskenteli vanhuspalveluissa ja 18 155 muussa sotessa. Logistisen regressioanalyysin tulokset osoittivat, että huonoon työkykyyn yhteydessä olevat kuormitus­ ja voimavaratekijät olivat vanhuspalveluissa ja muualla sotessa samoja, mutta kovarianssianalyysin perusteella niiden tasoissa oli eroja. Kotihoidossa, palveluasumisessa sekä poliklinikka­ ja osastohoidossa työhön liittyi enemmän kuormitustekijöitä kuin muussa sotessa. Lisäksi voimavaratekijöistä työaika­autonomiaa ja kykyjen käyttömahdollisuuksia oli muuta sotea vähemmän. Työkuormituksen helpottamiseksi ja työkyvyn edistämiseksi vanhuspalveluissa ja sote­organisaatioissa huomio tulee kääntää yhteisöllisiin ratkaisuihin, kuten työyhteisön yhteistyön sujuvuuteen, päätöksenteon oikeudenmukaisuuden lisäämiseen ja valmentavan johtajuuden vahvistamiseen.

BackgroundStudies on which persuasive features may work for different users in health contexts are rare. The participants in this study were microentrepreneurs. We built a persuasive mobile app to help them to recover from work. Representatives of this target group tend to be very busy due to work, which was reflected in their use of the app during the randomized controlled trial intervention. Microentrepreneurs also often have dual roles; they are professionals in their line of work as well as entrepreneurs managing their own business, which may add to their workload. ObjectiveThis study aimed to present users’ views on the factors that hinder their use of the mobile health app that we developed and how these factors could be mitigated. MethodsWe interviewed 59 users and conducted both data-driven and theory-driven analyses on the interviews. ResultsFactors reducing app use could be divided into 3 categories: use context (problem domain–related issues, eg, the lack of time due to work), user context (user-related issues, eg, concurrent use of other apps), and technology context (technology-related issues, eg, bugs and usability). Due to the nature of the participants’ entrepreneurship, which often interferes with personal life, it became clear that designs targeting similar target groups should avoid steep learning curves and should be easy (quick) to use. ConclusionsPersonalized tunneling—guiding the user through a system via personalized solutions—could help similar target groups with similar issues better engage with and keep using health apps because of the easy learning curve. When developing health apps for interventions, background theories should not be interpreted too strictly. Applying theory in practice may require rethinking approaches for adaptation as technology has evolved rapidly and continues to evolve. Trial RegistrationClinicalTrials.gov NCT03648593; https://clinicaltrials.gov/ct2/show/NCT03648593

Abstract Background Work in the health and social care services (HSS) is very stressful and sickness absences are high. Nevertheless, little is known about their work stressors and work ability. The first aim of this study is to describe the prevalence of different work stressors and their accumulation among eldercare workers compared to general HSS workers. Second aim is to analyze associations between different work stressors and work ability and thus provide information on factors that are important in enhancing work ability. Methods This cross-sectional survey examined HSS employees in Finland in 2020. The response rate was 67% (N = 22,502). Descriptive analyses were used to describe the control variables and the differences between the work stressors of general HSS and eldercare employees. After this, multinomial logistic regression analysis revealed the association between work stressors and work ability. Results Eldercare employees experienced more often moral distress than HSS employees in general, and this further lowers their work ability. Single work stressors––Karasek’s strain, Siegrist’s ERI, organizational injustice and moral distress––increased the odds of low work ability (OR range 1.4–2.5) in comparison to no work stressors. However, the association with single stressors was roughly one third of that with the accumulation of all four work stressors (OR = 6.8). Thus, the accumulation of several stressors was most harmful for work ability. Conclusions This study provides novel information on the accumulation of work stressors in relation to work ability. The results suggest that in order to enhance work ability, HSS organizations should pay more attention to preventing several stressors from accumulating. Eldercare organizations in particular need to develop effective measures for lowering moral distress.

Objective Previous work ability studies have primarily focused on old workers and physical health. This study investigated how poor perceived work ability (PPWA) is associated with work-related factors in different health and social service (HSS) worker age groups.Design Cross-sectional survey in 2020.Setting HSS employees (general HSS and eldercare) in nine Finnish public sector organisations.Participants All employees who were employed in the organisation completed self-reported questionnaires. Of the original sample (N=24 459, response rate 67%), 22 528 gave consent for research use.Primary and secondary outcome measures Participants evaluated their psychosocial work environment and work ability. Lowest decile of work ability was categorised as poor. The association between psychosocial work-related factors and PPWA in different age-groups of HSS workers, adjusting for perceived health, was analysed with logistic regression.Results The proportion of PPWA was highest in shift workers, eldercare employees, practical nurses and registered nurses. Considerable variation between age groups exists in the work-related psychosocial factors associated with PPWA. Among young employees engaging leadership and working time and work task autonomy were statistically significant, whereas in middle-aged and old employees procedural justice and ethical strain were highlighted. The strength of the association with perceived health also differs in age groups (young: OR=3.77, 95% CI 3.30 to 4.30; middle-aged: OR=4.66, 95% CI 4.22 to 5.14; old: OR=6.16, 95% CI 5.20 to 7.18).Conclusions Young employees would benefit from engaging leadership and mentoring, and from more working time and work task autonomy. As employees get older they would benefit more from job modification and from ethical and just organisation culture.

Abstract Background Association of physiological recovery with nutrition has scarcely been studied. We investigated whether physiological recovery during sleep relates to eating habits, i.e., eating behaviour and diet quality. Methods Cross-sectional baseline analysis of psychologically distressed adults with overweight (N = 252) participating in a lifestyle intervention study in three Finnish cities. Recovery measures were based on sleep-time heart rate variability (HRV) measured for 3 consecutive nights. Measures derived from HRV were 1) RMSSD (Root Mean Square of the Successive Differences) indicating the parasympathetic activation of the autonomic nervous system and 2) Stress Balance (SB) indicating the temporal ratio of recovery to stress. Eating behaviour was measured with questionnaires (Intuitive Eating Scale, Three-Factor Eating Questionnaire, Health and Taste Attitude Scales, ecSatter Inventory™). Diet quality was quantified using questionnaires (Index of Diet Quality, Alcohol Use Disorders Identification Test Consumption) and 48-h dietary recall. Results Participants with best RMSSD reported less intuitive eating (p = 0.019) and less eating for physical rather than emotional reasons (p = 0.010) compared to those with poorest RMSSD; participants with good SB reported less unconditional permission to eat (p = 0.008), higher fibre intake (p = 0.028), higher diet quality (p = 0.001), and lower alcohol consumption (p

Even though entrepreneurial work is stressful, health promotion interventions are seldom targeted at entrepreneurs, and we know little about how to reach and recruit this hard-to-reach group to such studies. We described and evaluated the recruitment process of a mobile health application intervention study aimed at enhancing work ability and recovery. Finnish microentrepreneurs (N = 1243) were registered for the intervention. We analyzed surveys, interviews, and registration data. Most participants registered through email invitations. The registered microentrepreneurs were not representative of all Finnish microentrepreneurs; females and highly educated individuals were overrepresented, and those working in agriculture were underrepresented. Differences be- tween registration routes were observed: females registered more often through the self-enrollment route, whereas males and older entrepreneurs registered more often through email invitations. The findings indicate that recruitment strategies are associated with participant characteristics. To increase participation rates, persuasive recruitment approaches are needed.

Abstract Background Internal motivation and good psychological capabilities are important factors in successful eating-related behavior change. Thus, we investigated whether general acceptance and commitment therapy (ACT) affects reported eating behavior and diet quality and whether baseline perceived stress moderates the intervention effects. Methods Secondary analysis of unblinded randomized controlled trial in three Finnish cities. Working-aged adults with psychological distress and overweight or obesity in three parallel groups: (1) ACT-based Face-to-face (n = 70; six group sessions led by a psychologist), (2) ACT-based Mobile (n = 78; one group session and mobile app), and (3) Control (n = 71; only the measurements). At baseline, the participants’ (n = 219, 85% females) mean body mass index was 31.3 kg/m2 (SD = 2.9), and mean age was 49.5 years (SD = 7.4). The measurements conducted before the 8-week intervention period (baseline), 10 weeks after the baseline (post-intervention), and 36 weeks after the baseline (follow-up) included clinical measurements, questionnaires of eating behavior (IES-1, TFEQ-R18, HTAS, ecSI 2.0, REBS), diet quality (IDQ), alcohol consumption (AUDIT-C), perceived stress (PSS), and 48-h dietary recall. Hierarchical linear modeling (Wald test) was used to analyze the differences in changes between groups. Results Group x time interactions showed that the subcomponent of intuitive eating (IES-1), i.e., Eating for physical rather than emotional reasons, increased in both ACT-based groups (p = .019); the subcomponent of TFEQ-R18, i.e., Uncontrolled eating, decreased in the Face-to-face group (p = .020); the subcomponent of health and taste attitudes (HTAS), i.e., Using food as a reward, decreased in the Mobile group (p = .048); and both subcomponent of eating competence (ecSI 2.0), i.e., Food acceptance (p = .048), and two subcomponents of regulation of eating behavior (REBS), i.e., Integrated and Identified regulation (p = .003, p = .023, respectively), increased in the Face-to-face group. Baseline perceived stress did not moderate effects on these particular features of eating behavior from baseline to follow-up. No statistically significant effects were found for dietary measures. Conclusions ACT-based interventions, delivered in group sessions or by mobile app, showed beneficial effects on reported eating behavior. Beneficial effects on eating behavior were, however, not accompanied by parallel changes in diet, which suggests that ACT-based interventions should include nutritional counseling if changes in diet are targeted. Trial registration ClinicalTrials.gov (NCT01738256), registered 17 August, 2012.

Abstract Background Health policy papers disseminate recommendations and guidelines for the development and implementation of health promotion interventions. Such documents have rarely been investigated with regard to their assumed mechanisms of action for changing behaviour. The Theoretical Domains Framework (TDF) and Behaviour Change Techniques (BCT) Taxonomy have been used to code behaviour change intervention descriptions, but to our knowledge such “retrofitting” of policy papers has not previously been reported. This study aims first to identify targets, mediators, and change strategies for physical activity (PA) and nutrition behaviour change in Finnish policy papers on workplace health promotion, and second to assess the suitability of the Behaviour Change Wheel (BCW) approach for this purpose. Method We searched all national-level health policy papers effectual in Finland in August 2016 focusing on the promotion of PA and/or healthy nutrition in the workplace context (n = 6). Policy recommendations targeting employees’ nutrition and PA including sedentary behaviour (SB) were coded using BCW, TDF, and BCT Taxonomy. Results A total of 125 recommendations were coded in the six policy papers, and in two additional documents referenced by them. Psychological capability, physical opportunity, and social opportunity were frequently identified (22%, 31%, and 24%, respectively), whereas physical capability was almost completely absent (1%). Three TDF domains (knowledge, skills, and social influence) were observed in all papers. Multiple intervention functions and BCTs were identified in all papers but several recommendations were too vague to be coded reliably. Influencing individuals (46%) and changing the physical environment (44%) were recommended more frequently than influencing the social environment (10%). Conclusions The BCW approach appeared to be useful for analysing the content of health policy papers. Paying more attention to underlying assumptions regarding behavioural change processes may help to identify neglected aspects in current policy, and to develop interventions based on recommendations, thus helping to increase the impact of policy papers.

Työelämän moninaiset muutokset haastavat kaikki toimijat terveyden ja työkyvyn edistämiseen työpaikoilla. Työkyvyn talo -malli on yksi tapa kuvata 1980-luvun puolivälissä kehitettyä laaja-alaista työkyvyn käsitettä. Tässä tutkimuksessa kuvataan, millaisia työntekijän hyvinvoinnin sisältöjä Työterveyslaitoksen järjestämissä Sytyttäjä-työpajoissa muodostuu Työkyvyn talon kerroksiin ja niiden ulkopuolelle. Tuloksia voidaan hyödyntää arvioitaessa Sytyttäjä-työpajamallin ja Työkyvyn talo -mallin soveltuvuutta yhteisölliseen terveyden ja työkyvyn edistämiseen sekä kehittämistarpeiden tunnistamiseen työpaikoilla. Työterveyslaitoksen kehittämän ja vuosina 2015–2016 järjestämien Sytyttäjä-työpajojen yhteydessä tehdyt piirustukset ja niiden sisältämät hyvinvoivaa työntekijää tai yrittäjää kuvaavat ilmaisut analysoitiin ensin deduktiivisella sisällönanalyysilla käyttäen luokittelurunkona Työkyvyn talo -mallia. Mallin ulkopuolelle jääneet ilmaisut analysoitiin induktiivisella sisällönanalyysilla. Tulokset tukevat Työkyvyn talo -mallin terveyden ja toimintakyvyn -kerroksen sekä johtamisen, työyhteisön ja työolojen -kerroksen tärkeyttä työkyvyn ulottuvuuksina. Työkyvyn talo -mallin ulkopuoliset sisällöt liittyvät yksilön työkykyä tukeviin ominaisuuksiin, piirteisiin ja toimintatapoihin. Uudet sisällöt kuvastavat työelämässä tapahtuneita muutoksia ja asettavat haasteita työkyvyn määritelmän päivittämiselle. Työkyvyn talo -malli on toimiva perusta ja lähtökohta yhteisölliseen terveyden ja työkyvyn edistämiseen työpaikalla.

BackgroundIncreased adiposity is linked with higher risk for cardiometabolic diseases. We aimed to determine to what extent elevated body mass index (BMI) within the normal weight range has causal effects on the detailed systemic metabolite profile in early adulthood.Methods and findingsWe used Mendelian randomization to estimate causal effects of BMI on 82 metabolic measures in 12,664 adolescents and young adults from four population-based cohorts in Finland (mean age 26 y, range 16-39 y; 51% women; mean ± standard deviation BMI 24 ± 4 kg/m(2)). Circulating metabolites were quantified by high-throughput nuclear magnetic resonance metabolomics and biochemical assays. In cross-sectional analyses, elevated BMI was adversely associated with cardiometabolic risk markers throughout the systemic metabolite profile, including lipoprotein subclasses, fatty acid composition, amino acids, inflammatory markers, and various hormones (pConclusionsMendelian randomization indicates causal adverse effects of increased adiposity with multiple cardiometabolic risk markers across the metabolite profile in adolescents and young adults within the non-obese weight range. Consistent with the causal influences of adiposity, weight changes were paralleled by extensive metabolic changes, suggesting a broadly modifiable systemic metabolite profile in early adulthood. Please see later in the article for the Editors' Summary.

Pre- and perinatal factors and preschool body size may help identify children developing overweight, but these factors might have changed during the development of the obesity epidemic.We aimed to assess the associations between early life risk indicators and overweight at the age of 9 and 15 years at different stages of the obesity epidemic.We used two population-based Northern Finland Birth Cohorts including 4111 children born in 1966 (NFBC1966) and 5414 children born in 1985-1986 (NFBC1986). In both cohorts, we used the same a priori defined prenatal factors, maternal body mass index (BMI), birth weight, infant weight (age 5 months and 1 year), and preschool BMI (age 2-5 years). We used internal references in early childhood to define percentiles of body size (90) and generalized linear models to study the association with overweight, according to the International Obesity Taskforce (IOTF) definitions, at the ages of 9 and 15 years.The prevalence of overweight at the age of 15 was 9% for children born in 1966 and 16% for children born in 1986. However, medians of infant weight and preschool BMI changed little between the cohorts, and we found similar associations between maternal BMI, infant weight, preschool BMI, and later overweight in the two cohorts. At 5 years, children above the 90th percentile had approximately a 12 times higher risk of being overweight at the age of 15 years compared to children below the 50th percentile in both cohorts.The associations between early body size and adolescent overweight showed remarkable stability, despite the increase in prevalence of overweight over the 20 years between the cohorts. Using consequently defined internal percentiles may be a valuable tool in clinical practice.

If preschool measures of body size routinely collected at preventive health examinations are associated with adult central obesity and metabolic syndrome, a focused use of these data for the identification of high risk children is possible. The aim of this study was to test the associations between preschool weight and body mass index (BMI) and adult BMI, central obesity and metabolic alterations.The Northern Finland Birth Cohort 1966 (NFBC1966) (N = 4111) is a population-based cohort. Preschool weight (age 5 months and 1 year) and BMI (age 2-5 years) were studied in relation to metabolic syndrome as well as BMI, waist circumference, lipoproteins, blood pressure, and fasting glucose at the age of 31 years. Linear regression models and generalized linear regression models with log link were used.Throughout preschool ages, weight and BMI were significantly linearly associated with adult BMI and waist circumference. Preschool BMI was inversely associated with high-density lipoprotein levels from the age of 3 years. Compared with children in the lower half of the BMI range, the group of children with the 5% highest BMI at the age of 5 years had a relative risk of adult obesity of 6.2(95% CI:4.2-9.3), of adult central obesity of 2.4(95% CI:2.0-2.9), and of early onset adult metabolic syndrome of 2.5(95% CI:1.7-3.8).High preschool BMI is consistently associated with adult obesity, central obesity and early onset metabolic syndrome. Routinely collected measures of body size in preschool ages can help to identify children in need of focused prevention due to their increased risk of adverse metabolic alterations in adulthood.

Studies of leukocyte telomere length (LTL) and adiposity have produced conflicting results, and the relationship between body mass index (BMI) and telomere length throughout life remains unclear. We therefore tested association of adult LTL measured in 5,598 participants with: i) childhood growth measures (BMI and age at adiposity rebound (AR)); ii) change in BMI from childhood to adulthood and iii) adult BMI, waist-to-hip ratio (WHR), body adiposity index (BAI). Childhood BMI at AR was positively associated with LTL at 31 years in women (P = 0.041). Adult BMI and WHR in both men (P = 0.025 and P = 0.049, respectively) and women (P = 0.029 and P = 0.008, respectively), and BAI in women (P = 0.021) were inversely associated with LTL at 31 years. An increase in standardised BMI between early childhood and adulthood was associated with shorter adult LTL in women (P = 0.008). We show that LTL is inversely associated with multiple measures of adiposity in both men and women. Additionally, BMI increase in women from childhood to adulthood is associated with shorter telomeres at age 31, potentially indicating accelerated biological ageing.

[This corrects the article DOI: 10.1371/journal.pone.0044008.].

The limited ability of common variants to account for the genetic contribution to complex disease has prompted searches for rare variants of large effect, to partly explain the 'missing heritability'. Analyses of genome-wide genotyping data have identified genomic structural variants (GSVs) as a source of such rare causal variants. Recent studies have reported multiple GSV loci associated with risk of obesity. We attempted to replicate these associations by similar analysis of two familial-obesity case-control cohorts and a population cohort, and detected GSVs at 11 out of 18 loci, at frequencies similar to those previously reported. Based on their reported frequencies and effect sizes (OR≥25), we had sufficient statistical power to detect the large majority (80%) of genuine associations at these loci. However, only one obesity association was replicated. Deletion of a 220 kb region on chromosome 16p11.2 has a carrier population frequency of 2×10(-4) (95% confidence interval [9.6×10(-5)-3.1×10(-4)]); accounts overall for 0.5% [0.19%-0.82%] of severe childhood obesity cases (P = 3.8×10(-10); odds ratio = 25.0 [9.9-60.6]); and results in a mean body mass index (BMI) increase of 5.8 kg.m(-2) [1.8-10.3] in adults from the general population. We also attempted replication using BMI as a quantitative trait in our population cohort; associations with BMI at or near nominal significance were detected at two further loci near KIF2B and within FOXP2, but these did not survive correction for multiple testing. These findings emphasise several issues of importance when conducting rare GSV association, including the need for careful cohort selection and replication strategy, accurate GSV identification, and appropriate correction for multiple testing and/or control of false discovery rate. Moreover, they highlight the potential difficulty in replicating rare CNV associations across different populations. Nevertheless, we show that such studies are potentially valuable for the identification of variants making an appreciable contribution to complex disease.

BackgroundThe association between adiposity and cardiometabolic traits is well known from epidemiological studies. Whilst the causal relationship is clear for some of these traits, for others it is not. We aimed to determine whether adiposity is causally related to various cardiometabolic traits using the Mendelian randomization approach.Methods and findingsWe used the adiposity-associated variant rs9939609 at the FTO locus as an instrumental variable (IV) for body mass index (BMI) in a Mendelian randomization design. Thirty-six population-based studies of individuals of European descent contributed to the analyses. Age- and sex-adjusted regression models were fitted to test for association between (i) rs9939609 and BMI (n = 198,502), (ii) rs9939609 and 24 traits, and (iii) BMI and 24 traits. The causal effect of BMI on the outcome measures was quantified by IV estimators. The estimators were compared to the BMI-trait associations derived from the same individuals. In the IV analysis, we demonstrated novel evidence for a causal relationship between adiposity and incident heart failure (hazard ratio, 1.19 per BMI-unit increase; 95% CI, 1.03-1.39) and replicated earlier reports of a causal association with type 2 diabetes, metabolic syndrome, dyslipidemia, and hypertension (odds ratio for IV estimator, 1.1-1.4; all p < 0.05). For quantitative traits, our results provide novel evidence for a causal effect of adiposity on the liver enzymes alanine aminotransferase and gamma-glutamyl transferase and confirm previous reports of a causal effect of adiposity on systolic and diastolic blood pressure, fasting insulin, 2-h post-load glucose from the oral glucose tolerance test, C-reactive protein, triglycerides, and high-density lipoprotein cholesterol levels (all p < 0.05). The estimated causal effects were in agreement with traditional observational measures in all instances except for type 2 diabetes, where the causal estimate was larger than the observational estimate (p = 0.001).ConclusionsWe provide novel evidence for a causal relationship between adiposity and heart failure as well as between adiposity and increased liver enzymes.

Recent studies suggest that meal frequencies influence the risk of obesity in children and adolescents. It has also been shown that multiple genetic loci predispose to obesity already in youth. However, it is unknown whether meal frequencies could modulate the association between single nucleotide polymorphisms (SNPs) and the risk of obesity. We examined the effect of two meal patterns on weekdays -5 meals including breakfast (regular) and ≤ 4 meals with or without breakfast (meal skipping) - on the genetic susceptibility to increased body mass index (BMI) in Finnish adolescents. Eight variants representing 8 early-life obesity-susceptibility loci, including FTO and MC4R, were genotyped in 2215 boys and 2449 girls aged 16 years from the population-based Northern Finland Birth Cohort 1986. A genetic risk score (GRS) was calculated for each individual by summing the number of BMI-increasing alleles across the 8 loci. Weight and height were measured and dietary data were collected using self-administered questionnaires. Among meal skippers, the difference in BMI between high-GRS and low-GRS (

PurposeTo evaluate whether midsagittal (abdominal) obesity in magnetic resonance imaging (MRI), waist circumference (WC) and body fat percentage are associated with lumbar disc degeneration in early adulthood.MethodsWe obtained the lumbar MRI (1.5-T scanner) of 325 females and 233 males at a mean age of 21 years. Lumbar disc degeneration was evaluated using Pfirrmann classification. We analysed the associations of MRI measures of obesity (abdominal diameter (AD), sagittal diameter (SAD), ventral subcutaneous thickness (VST), and dorsal subcutaneous thickness (DST)), WC and body fat percentage with disc degeneration sum scores using ordinal logistic regression.ResultsA total of 155 (48%) females and 147 (63%) males had disc degeneration. AD and SAD were associated with a disc degeneration sum score of ≥3 compared to disc degeneration sum score of 0-2 (OR 1.67; 95% confidence interval (CI) 1.20-2.33 and OR 1.40; 95% CI 1.12-1.75, respectively) among males, but we found no association among females. WC was also associated with disc degeneration among males (OR 1.03 per one cm; 95% CI 1.00-1.05), but not among females.ConclusionMeasures of abdominal obesity in MRI and waist circumference were associated with disc degeneration among 21-year-old males.

ObjectivesPrevention of obesity should start as early as possible after birth. We aimed to build clinically useful equations estimating the risk of later obesity in newborns, as a first step towards focused early prevention against the global obesity epidemic.MethodsWe analyzed the lifetime Northern Finland Birth Cohort 1986 (NFBC1986) (N = 4,032) to draw predictive equations for childhood and adolescent obesity from traditional risk factors (parental BMI, birth weight, maternal gestational weight gain, behaviour and social indicators), and a genetic score built from 39 BMI/obesity-associated polymorphisms. We performed validation analyses in a retrospective cohort of 1,503 Italian children and in a prospective cohort of 1,032 U.S. children.ResultsIn the NFBC1986, the cumulative accuracy of traditional risk factors predicting childhood obesity, adolescent obesity, and childhood obesity persistent into adolescence was good: AUROC = 0·78[0·74-0.82], 0·75[0·71-0·79] and 0·85[0·80-0·90] respectively (all pConclusionThis study provides the first example of handy tools for predicting childhood obesity in newborns by means of easily recorded information, while it shows that currently known genetic variants have very little usefulness for such prediction.

The object of this study was to identify temperament patterns in the Finnish population, and to determine the relationship between these profiles and life habits, socioeconomic status, and health.A cluster analysis of the Temperament and Character Inventory subscales was performed on 3,761 individuals from the Northern Finland Birth Cohort 1966 and replicated on 2,097 individuals from the Cardiovascular Risk in Young Finns study. Clusters were formed using the k-means method and their relationship with 115 variables from the areas of life habits, socioeconomic status and health was examined.Four clusters were identified for both genders. Individuals from Cluster I are characterized by high persistence, low extravagance and disorderliness. They have healthy life habits, and lowest scores in most of the measures for psychiatric disorders. Cluster II individuals are characterized by low harm avoidance and high novelty seeking. They report the best physical capacity and highest level of income, but also high rate of divorce, smoking, and alcohol consumption. Individuals from Cluster III are not characterized by any extreme characteristic. Individuals from Cluster IV are characterized by high levels of harm avoidance, low levels of exploratory excitability and attachment, and score the lowest in most measures of health and well-being.This study shows that the temperament subscales do not distribute randomly but have an endogenous structure, and that these patterns have strong associations to health, life events, and well-being.

Asthma has substantial morbidity and mortality and a strong genetic component, but identification of genetic risk factors is limited by availability of suitable studies.To test if population-based cohorts with self-reported physician-diagnosed asthma and genome-wide association (GWA) data could be used to validate known associations with asthma and identify novel associations.The APCAT (Analysis in Population-based Cohorts of Asthma Traits) consortium consists of 1,716 individuals with asthma and 16,888 healthy controls from six European-descent population-based cohorts. We examined associations in APCAT of thirteen variants previously reported as genome-wide significant (P

An age-dependent association between variation at the FTO locus and BMI in children has been suggested. We meta-analyzed associations between the FTO locus (rs9939609) and BMI in samples, aged from early infancy to 13 years, from 8 cohorts of European ancestry. We found a positive association between additional minor (A) alleles and BMI from 5.5 years onwards, but an inverse association below age 2.5 years. Modelling median BMI curves for each genotype using the LMS method, we found that carriers of minor alleles showed lower BMI in infancy, earlier adiposity rebound (AR), and higher BMI later in childhood. Differences by allele were consistent with two independent processes: earlier AR equivalent to accelerating developmental age by 2.37% (95% CI 1.87, 2.87, p = 10(-20)) per A allele and a positive age by genotype interaction such that BMI increased faster with age (p = 10(-23)). We also fitted a linear mixed effects model to relate genotype to the BMI curve inflection points adiposity peak (AP) in infancy and AR. Carriage of two minor alleles at rs9939609 was associated with lower BMI at AP (-0.40% (95% CI: -0.74, -0.06), p = 0.02), higher BMI at AR (0.93% (95% CI: 0.22, 1.64), p = 0.01), and earlier AR (-4.72% (-5.81, -3.63), p = 10(-17)), supporting cross-sectional results. Overall, we confirm the expected association between variation at rs9939609 and BMI in childhood, but only after an inverse association between the same variant and BMI in infancy. Patterns are consistent with a shift on the developmental scale, which is reflected in association with the timing of AR rather than just a global increase in BMI. Results provide important information about longitudinal gene effects and about the role of FTO in adiposity. The associated shifts in developmental timing have clinical importance with respect to known relationships between AR and both later-life BMI and metabolic disease risk.

Tooth development is a highly heritable process which relates to other growth and developmental processes, and which interacts with the development of the entire craniofacial complex. Abnormalities of tooth development are common, with tooth agenesis being the most common developmental anomaly in humans. We performed a genome-wide association study of time to first tooth eruption and number of teeth at one year in 4,564 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966) and 1,518 individuals from the Avon Longitudinal Study of Parents and Children (ALSPAC). We identified 5 loci at P

To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist-hip ratio (WHR). We selected 26 SNPs for follow-up, for which the evidence of association with measures of central adiposity (WC and/or WHR) was strong and disproportionate to that for overall adiposity or height. Follow-up studies in a maximum of 70,689 individuals identified two loci strongly associated with measures of central adiposity; these map near TFAP2B (WC, P = 1.9x10(-11)) and MSRA (WC, P = 8.9x10(-9)). A third locus, near LYPLAL1, was associated with WHR in women only (P = 2.6x10(-8)). The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity/fat-mass, whereas LYPLAL1 displays a strong female-only association with fat distribution. By focusing on anthropometric measures of central obesity and fat distribution, we have identified three loci implicated in the regulation of human adiposity.

Recent genome-wide association (GWA) studies have identified dozens of common variants associated with adult height. However, it is unknown how these variants influence height growth during childhood. We derived peak height velocity in infancy (PHV1) and puberty (PHV2) and timing of pubertal height growth spurt from parametric growth curves fitted to longitudinal height growth data to test their association with known height variants. The study consisted of N = 3,538 singletons from the prospective Northern Finland Birth Cohort 1966 with genotype data and frequent height measurements (on average 20 measurements per person) from 0-20 years. Twenty-six of the 48 variants tested associated with adult height (p