Infant Motor Development Predicts Sports Participation at Age 14 Years: Northern Finland Birth Cohort of 1966

Motor proficiency is positively associated with physical activity levels. The aim of this study is to investigate associations between the timing of infant motor development and subsequent sports participation during adolescence.Prospective observational study. The study population consisted of 9,009 individuals from the Northern Finland Birth Cohort 1966. Motor development was assessed by parental report at age 1 year, using age at walking with support and age at standing unaided. At follow up aged 14 years, data were collected on the school grade awarded for physical education (PE). Self report was used to collect information on the frequency of sports participation and number of different sports reported.Earlier infant motor development was associated with improved school PE grade, for age at walking supported (p<0.001) and standing unaided (p = <0.001). Earlier infant motor development, in terms of age at walking supported, was positively associated with the number of different sports reported (p = 0.003) and with a greater frequency of sports participation (p = 0.043). These associations were independent of gestational age and birth weight, as well as father's social class and body mass index at age 14 years.Earlier infant motor development may predict higher levels of physical activity as indicated by higher school PE grade, participation in a greater number of different types of sports and increased frequency of sports participation. Identification of young children with slower motor development may allow early targeted interventions to improve motor skills and thereby increase physical activity in later life

QWERTY: The effects of typing on web search behavior

Typing is a common form of query input for search engines and other information retrieval systems; we therefore investigate the relationship between typing behavior and search interactions. The search process is interactive and typically requires entering one or more queries, and assessing both summaries from Search Engine Result Pages and the underlying documents, to ultimately satisfy some information need. Under the Search Economic Theory model of interactive information retrieval, differences in query costs will result in search behavior changes. We investigate how differences in query inputs themselves may relate to Search Economic Theory by conducting a lab-based experiment to observe how text entries influence subsequent search interactions. Our results indicate that for faster typing speeds, more queries are entered in a session, while both query lengths and assessment times are lower

Women with polycystic ovary syndrome are burdened with multimorbidity and medication use independent of body mass index at late fertile age : A population-based cohort study

Introduction This population-based follow-up study investigated the comorbidities, medication use, and healthcare services among women with polycystic ovary syndrome (PCOS) at age 46 years. Material and methods The study population derived from the Northern Finland Birth Cohort 1966 and consisted of women reporting oligo/amenorrhea and hirsutism at age 31 years and/or a PCOS diagnosis by age 46 years (n = 246) and controls without PCOS symptoms or diagnosis (n = 1573), referred to as non-PCOS women. The main outcome measures were self-reported data on symptoms, diagnosed diseases, and medication and healthcare service use at the age of 46 years. Results Overall morbidity risk was increased by 35% (risk ratio [RR] 1.35, 95% confidence interval [CI] 1.16-1.57) and medication use by 27% [RR 1.27, 95% CI 1.08-1.50) compared with non-PCOS women, and the risk remained after adjusting for body mass index. Diagnoses with increased prevalence in women with PCOS were migraine, hypertension, tendinitis, osteoarthritis, fractures, and endometriosis. PCOS was also associated with autoimmune diseases and recurrent upper respiratory tract infections and symptoms. Interestingly, healthcare service use did not differ between the study groups after adjusting for body mass index. Conclusions Women with PCOS are burdened with multimorbidity and higher medication use, independent of body mass index.Peer reviewe

Association between Birth Characteristics and Cardiovascular Autonomic Function at Mid-Life

Background Low birth weight is associated with an increased risk of cardiovascular diseases in adulthood. As abnormal cardiac autonomic function is a common feature in cardiovascular diseases, we tested the hypothesis that low birth weight may also be associated with poorer cardiac autonomic function in middle-aged subjects. Methods At the age of 46, the subjects of the Northern Finland Birth Cohort 1966 were invited to examinations including questionnaires about health status and life style and measurement of vagally-mediated heart rate variability (rMSSD) from R-R intervals (RRi) and spontaneous baroreflex sensitivity (BRS) in both seated and standing positions. Maternal parameters had been collected in 1965–1966 since the 16th gestational week and birth variables immediately after delivery. For rMSSD, 1,799 men and 2,279 women without cardiorespiratory diseases and diabetes were included and 902 men and 1,020 women for BRS. The analyses were adjusted for maternal (age, anthropometry, socioeconomics, parity, gestational smoking) and adult variables (life style, anthropometry, blood pressure, glycemic and lipid status) potentially confounding the relationship between birth weight and autonomic function. Results In men, birth weight correlated negatively with seated (r = -0.058, p = 0.014) and standing rMSSD (r = -0.090, p<0.001), as well as with standing BRS (r = -0.092, p = 0.006). These observations were verified using relevant birth weight categories (<2,500 g; 2,500–3,999 g; ≥4,000 g). In women, birth weight was positively correlated with seated BRS (r = 0.081, p = 0.010), but none of the other measures of cardiovascular autonomic function. These correlations remained significant after adjustment for potential confounders (p<0.05 for all). Conclusions In men, higher birth weight was independently associated with poorer cardiac autonomic function at mid-life. Same association was not observed in women. Our findings suggest that higher, not lower, birth weight in males may contribute to less favourable cardiovascular autonomic regulation and potentially to an elevated cardiovascular risk in later life

The association between physical fitness and depressive symptoms among young adults: results of the Northern Finland 1966 birth cohort study

Background The effect of physical activity on mental health has been the subject of research for several decades. However, there is a lack of studies investigating the association between physical fitness, including both cardiorespiratory and muscular fitness and depressive symptoms among general population. The aim of this study was to determine the association between physical fitness and depressive symptoms among young adults. Methods The study population consists of 5497 males and females, members of the Northern Finland birth cohort of 1966, who at age 31 completed fitness tests and filled in a questionnaire including questions about depressive symptoms (Hopkins’ Symptom Checklist-25) and physical activity. Cardiorespiratory fitness was measured by a 4-min step test and muscular fitness by tests of maximal isometric handgrip and isometric trunk extension. The odds ratios (OR) with 95% confidence intervals (95% CI) for having depressive symptoms were calculated for quintiles groups of physical fitness using the third, median quintile as reference group, and the results were adjusted for potential confounding variables. Results Depressive symptoms were most common among males and females in the lowest quintile group of trunk extension test (OR 1.58 and 95% CI 1.07-2.32 in males and OR 1.43 and 95% CI 1.03-2.0 in females) and among males in the lowest quintile group of handgrip strength (OR 1.64 95% CI 1.11-2.42) compared to the reference group. Level of self-reported physical activity was inversely associated with depressive symptoms both in males (OR 1.74 95% CI 1.25-2.36) and females (OR 1.36 95% CI 1.05-1.75). The cardiorespiratory fitness was not associated with depressive symptoms (OR 1.01 95% CI 0.68-1.49 in males and 0.82 95% CI 0.57-1.16 in females). Conclusions The results indicate that low level of isometric endurance capacity of trunk extensor muscles is associated with high level of depressive symptoms in both sexes. In males, also poor handgrip strength is associated with increased levels of depressive symptoms. The physical activity level is inversely associated with the prevalence of depressive symptoms among young adults

MARV: a tool for genome-wide multi-phenotype analysis of rare variants

Background: Genome-wide association studies have enabled identification of thousands of loci for hundreds of traits. Yet, for most human traits a substantial part of the estimated heritability is unexplained. This and recent advances in technology to produce high-dimensional data cost-effectively have led to method development beyond standard common variant analysis, including single-phenotype rare variant and multi-phenotype common variant analysis, with the latter increasing power for locus discovery and providing suggestions of pleiotropic effects. However, there are currently no optimal methods and tools for the combined analysis of rare variants and multiple phenotypes. Results: We propose a user-friendly software tool MARV for Multi-phenotype Analysis of Rare Variants. The tool is based on a method that collapses rare variants within a genomic region and models the proportion of minor alleles in the rare variants on a linear combination of multiple phenotypes. MARV provides analyses of all phenotype combinations within one run and calculates the Bayesian Information Criterion to facilitate model selection. The running time increases with the size of the genetic data while the number of phenotypes to analyse has little effect both on running time and required memory. We illustrate the use of MARV with analysis of triglycerides (TG), fasting insulin (FI) and waist-to-hip ratio (WHR) in 4,721 individuals from the Northern Finland Birth Cohort 1966. The analysis suggests novel multi-phenotype effects for these metabolic traits at APOA5 and ZNF259, and at ZNF259 provides stronger support for association (P TG+FI = 1.8 × 10−9) than observed in single phenotype rare variant analyses (P TG = 6.5 × 10−8 and P FI = 0.27). Conclusions: MARV is a computationally efficient, flexible and user-friendly software tool allowing rapid identification of rare variant effects on multiple phenotypes, thus paving the way for novel discoveries and insights into biology of complex traits

Genetic and Functional Assessment of the Role of the rs13431652-A and rs573225-A Alleles in the G6PC2 Promoter That Are Strongly Associated With Elevated Fasting Glucose Levels

OBJECTIVE Genome-wide association studies have identified a single nucleotide polymorphism (SNP), rs560887, located in a G6PC2 intron that is highly correlated with variations in fasting plasma glucose (FPG). G6PC2 encodes an islet-specific glucose-6-phosphatase catalytic subunit. This study examines the contribution of two G6PC2 promoter SNPs, rs13431652 and rs573225, to the association signal. RESEARCH DESIGN AND METHODS We genotyped 9,532 normal FPG participants (FPG <6.1 mmol/l) for three G6PC2 SNPs, rs13431652 (distal promoter), rs573225 (proximal promoter), rs560887 (3rd intron). We used regression analyses adjusted for age, sex, and BMI to assess the association with FPG and haplotype analyses to assess comparative SNP contributions. Fusion gene and gel retardation analyses characterized the effect of rs13431652 and rs573225 on G6PC2 promoter activity and transcription factor binding. RESULTS Genetic analyses provide evidence for a strong contribution of the promoter SNPs to FPG variability at the G6PC2 locus (rs13431652: β = 0.075, P = 3.6 × 10−35; rs573225 β = 0.073 P = 3.6 × 10−34), in addition to rs560887 (β = 0.071, P = 1.2 × 10−31). The rs13431652-A and rs573225-A alleles promote increased NF-Y and Foxa2 binding, respectively. The rs13431652-A allele is associated with increased FPG and elevated promoter activity, consistent with the function of G6PC2 in pancreatic islets. In contrast, the rs573225-A allele is associated with elevated FPG but reduced promoter activity. CONCLUSIONS Genetic and in situ functional data support a potential role for rs13431652, but not rs573225, as a causative SNP linking G6PC2 to variations in FPG, though a causative role for rs573225 in vivo cannot be ruled out

Genetic and observational evidence : No independent role for cholesterol efflux over static high-density lipoprotein concentration measures in coronary heart disease risk assessment

Background Observational findings for high-density lipoprotein (HDL)-mediated cholesterol efflux capacity (HDL-CEC) and coronary heart disease (CHD) appear inconsistent, and knowledge of the genetic architecture of HDL-CEC is limited. Objectives A large-scale observational study on the associations of HDL-CEC and other HDL-related measures with CHD and the largest genome-wide association study (GWAS) of HDL-CEC. Participants/methods Six independent cohorts were included with follow-up data for 14,438 participants to investigate the associations of HDL-related measures with incident CHD (1,570 events). The GWAS of HDL-CEC was carried out in 20,372 participants. Results HDL-CEC did not associate with CHD when adjusted for traditional risk factors and HDL cholesterol (HDL-C). In contradiction, almost all HDL-related concentration measures associated consistently with CHD after corresponding adjustments. There were no genetic loci associated with HDL-CEC independent of HDL-C and triglycerides. Conclusion HDL-CEC is not unequivocally associated with CHD in contrast to HDL-C, apolipoprotein A-I, and most of the HDL subclass particle concentrations.Peer reviewe

An agenda-setting paper on data sharing platforms: euCanSHare workshop [version 1; peer review: awaiting peer review]

Various data sharing platforms are being developed to enhance the sharing of cohort data by addressing the fragmented state of data storage and access systems. However, policy challenges in several domains remain unresolved. The euCanSHare workshop was organized to identify and discuss these challenges and to set the future research agenda. Concerns over the multiplicity and long-term sustainability of platforms, lack of resources, access of commercial parties to medical data, credit and recognition mechanisms in academia and the organization of data access committees are outlined. Within these areas, solutions need to be devised to ensure an optimal functioning of platforms