Meta-analysis of exome array data identifies six novel genetic loci for lung function

Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. Methods: We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and the ratio of FEV1 to FVC (FEV1/FVC). These analyses by the SpiroMeta and CHARGE consortia included 60,749 individuals of European ancestry from 23 studies, and 7,721 individuals of African Ancestry from 5 studies in the discovery stage, with follow-up in up to 111,556 independent individuals. Results: We identified significant (P<2·8x10-7) associations with six SNPs: a nonsynonymous variant in RPAP1, which is predicted to be damaging, three intronic SNPs (SEC24C, CASC17 and UQCC1) and two intergenic SNPs near to LY86 and FGF10. Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including TYRO3 and PLAU. Conclusions: Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.

Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups. We undertook phenome-wide association studies for selected associated variants as well as trait and pathway-specific genetic risk scores to infer possible consequences of intervening in pathways underlying lung function. We highlight new putative causal variants, genes, proteins and pathways, including those targeted by existing drugs. These findings bring us closer to understanding the mechanisms underlying lung function and COPD, and should inform functional genomics experiments and potentially future COPD therapies

Incidence, mechanisms, and characteristics of injuries in pole dancers: A prospective cohort study

Objective: Pole dancing is a challenging physical activity. Prospective injury studies in pole dancing are lacking. The aim of this study was to describe the incidence, mechanisms, and characteristics of injuries in pole dancers. Methods: A total of 66 pole dancers from 41 studios across Australia were prospectively followed over 12 months. An intake questionnaire was administered including items on pole dancers\u27 demographics and training characteristics. Exposure was assessed using a daily online training diary. Self-reported injury data were collected via an incident report form and subsequently coded using the Orchard Sports Injury Classification System. Injuries occurring during pole-specific and pole-related activities were included in the analyses. Results: The sample included 63 females and 3 males, mean age 32.3 ± 8.9 years and mean pole training experience 3.5 ± 2.8 years. 25 of 66 participants completed the full study. The 1-year incidence of all new injuries was 8.95 / 1,000 exposure hours (95 % CI 6.94 - 10.96), 7.65 / 1,000 hrs (95 % CI 5.79 - 9.51) for pole-specific injuries and 1.29 / 1,000 hrs (95 % CI 0.53 - 2.06) for pole-related injuries. A total of 103 injuries occurred, 62.1 % of which were sudden onset and 37.9 % gradual onset. Mechanism of onset included 54.4 % acute and 45.6 % repetitive in nature. Shoulder (20.4 %) and thigh (11.7 %, majority ham¬string) were the most reported anatomic injury sites. Non-contact mechanisms accounted for the majority of injuries (57.3 %). The most reported primary contributor to injury onset at the shoulder were manoeuvres characterised by loaded internal humeral rotation (33.3 %), and at the hamstring were manoeuvres and postures involving front splits (100.0 %). Conclusion: The findings indicate that pole dancers are at high risk for injuries. Future research is needed to understand the biomechani¬cal demand of manoeuvres and training characteristics of pole dancing (e.g., workload and recovery) to guide the development of preventative interventions, particularly targeted toward the shoulder and hamstring

A ciência nas utopias de Campanella, Bacon, Comenius, e Glanvill

Este artigo analisa comparativamente o papel que a ciência e a técnica ocupam nas sociedades descritas em A cidade do Sol de Tommasio Campanella, a Nova Atlântida de Francis Bacon, Panorthosia de Jan Amós Comenius e o Complemento à Nova Atlântida de Joseph Glanvill.<br>This article evaluates the role that science and technology plays in the societies described by early modern utopias, making a comparative analysis of Tommasio Campanella's City of Sun, Francis Bacon's New Atlantis, Jan Amós Comenius' Panorthosia, and Joseph Glanvill's The summe of my lord Bacon's New Atlantis

High genetic structuring of Tula hantavirus.

Tula virus (TULV) is a vole-associated hantavirus with low or no pathogenicity to humans. In the present study, 686 common voles (Microtus arvalis), 249 field voles (Microtus agrestis) and 30 water voles (Arvicola spec.) were collected at 79 sites in Germany, Luxembourg and France and screened by RT-PCR and TULV-IgG ELISA. TULV-specific RNA and/or antibodies were detected at 43 of the sites, demonstrating a geographically widespread distribution of the virus in the studied area. The TULV prevalence in common voles (16.7 %) was higher than that in field voles (9.2 %) and water voles (10.0 %). Time series data at ten trapping sites showed evidence of a lasting presence of TULV RNA within common vole populations for up to 34 months, although usually at low prevalence. Phylogenetic analysis demonstrated a strong genetic structuring of TULV sequences according to geography and independent of the rodent species, confirming the common vole as the preferential host, with spillover infections to co-occurring field and water voles. TULV phylogenetic clades showed a general association with evolutionary lineages in the common vole as assessed by mitochondrial DNA sequences on a large geographical scale, but with local-scale discrepancies in the contact areas

Geographic and temporal variation in the consumption of bats by European barn owls

Capsule We report a review of the occurrence of bats in the Barn Owl diet Tyto alba in Europe. Based on 802 studies reporting 4.02 million prey items identified in pellets, 4949 were bats (0.12%). We found that bat predation decreased during the last 150 years, is more frequent on islands than mainland, and is higher in eastern than western Europe and in southern than northern Europe. Although Barn Owls usually capture bats opportunistically, they can sometimes specialize on them