659 research outputs found

    Functional gene group analysis indicates no role for heterotrimeric G proteins in cognitive ability

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    Previous functional gene group analyses implicated common single nucleotide polymorphisms (SNPs) in heterotrimeric G protein coding genes as being associated with differences in human intelligence. Here, we sought to replicate this finding using five independent cohorts of older adults including current IQ and childhood IQ, and using both gene- and SNP-based analytic strategies. No significant associations were found between variation in heterotrimeric G protein genes and intelligence in any cohort at either of the two time points. These results indicate that, whereas G protein systems are important in cognition, common genetic variation in these genes is unlikely to be a substantial influence on human intelligence differences

    Chronic widespread bodily pain is increased among individuals with history of fracture:findings from UK Biobank

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    Acknowledgments This work was supported by grants from the Medical Research Council, British Heart Foundation, Arthritis Research UK, National Osteoporosis Society, International Osteoporosis Foundation, NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, and NIHR Musculoskeletal Biomedical Research Unit, University of Oxford. This research has been conducted using the UK Biobank Resource. Compliance with ethical standards.Peer reviewedPublisher PD

    GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function : a report from the COGENT consortium

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    CORRIGENDUM Molecular Psychiatry (2017) 22, 1651–1652 http://www.nature.com/articles/mp2017197.pdfThe complex nature of human cognition has resulted in cognitive genomics lagging behind many other fields in terms of gene discovery using genome-wide association study (GWAS) methods. In an attempt to overcome these barriers, the current study utilized GWAS meta-analysis to examine the association of common genetic variation (similar to 8M single-nucleotide polymorphisms (SNP) with minor allele frequency >= 1%) to general cognitive function in a sample of 35 298 healthy individuals of European ancestry across 24 cohorts in the Cognitive Genomics Consortium (COGENT). In addition, we utilized individual SNP lookups and polygenic score analyses to identify genetic overlap with other relevant neurobehavioral phenotypes. Our primary GWAS meta-analysis identified two novel SNP loci (top SNPs: rs76114856 in the CENPO gene on chromosome 2 and rs6669072 near LOC105378853 on chromosome 1) associated with cognitive performance at the genome-wide significance level (PPeer reviewe

    Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevity

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    Genomic analysis of longevity offers the potential to illuminate the biology of human aging. Here, using genome-wide association meta-analysis of 606,059 parents' survival, we discover two regions associated with longevity (HLA-DQA1/DRB1 and LPA). We also validate previous suggestions that APOE, CHRNA3/5, CDKN2A/B, SH2B3 and FOXO3A influence longevity. Next we show that giving up smoking, educational attainment, openness to new experience and high-density lipoprotein (HDL) cholesterol levels are most positively genetically correlated with lifespan while susceptibility to coronary artery disease (CAD), cigarettes smoked per day, lung cancer, insulin resistance and body fat are most negatively correlated. We suggest that the effect of education on lifespan is principally mediated through smoking while the effect of obesity appears to act via CAD. Using instrumental variables, we suggest that an increase of one body mass index unit reduces lifespan by 7 months while 1 year of education adds 11 months to expected lifespan

    Decrease of deforestation in Protected Areas of Madagascar during the Covid-19 years

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    Deforestation poses a significant threat to global biodiversity and ecosystem services. This study focuses on estimating the deforestation within Protected Areas (PAs) in Madagascar over a 21-year period from 2001 to 2022. A novel methodology utilizing remote sensing data and specific thresholds of tree canopy density is employed to estimate annual deforestation rates and identify trends and patterns within PAs. The analysis reveals significant deforestation in the PA network over the last decade, particularly in 2014, 2017, 2018, and 2019. Notably, the lowest annual deforestation rates were estimated during the Covid-19 years of 2020 (0.66%), 2021 (0.62%), and the subsequent year in 2022 (0.67%) when considering the entire network of 103 PAs with natural forests from 2013 to 2022

    Decrease of deforestation in Protected Areas of Madagascar during the Covid-19 years

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    Deforestation poses a significant threat to global biodiversity and ecosystem services. This study focuses on estimating the deforestation within Protected Areas (PAs) in Madagascar over a 21-year period from 2001 to 2022. A novel methodology utilizing remote sensing data and specific thresholds of tree canopy density is employed to estimate annual deforestation rates and identify trends and patterns within PAs. The analysis reveals significant deforestation in the PA network over the last decade, particularly in 2014, 2017, 2018, and 2019. Notably, the lowest annual deforestation rates were estimated during the Covid-19 years of 2020 (0.66%), 2021 (0.62%), and the subsequent year in 2022 (0.67%) when considering the entire network of 103 PAs with natural forests from 2013 to 2022.   Résumé La déforestation constitue une menace importante pour la biodiversité mondiale et les services écosystémiques. Cette étude se concentre sur l'évaluation de l'efficacité des aires protégées (AP) pour lutter contre la déforestation à Madagascar sur une période de 21 ans, de 2001 à 2022. Une méthodologie novatrice utilisant des données de télédétection et des seuils spécifiques de densité du couvert arboré est employée pour estimer les taux annuels de déforestation et identifier les tendances et les modèles au sein des AP. Au cours de la dernière décennie, l'analyse révèle une déforestation significative dans le réseau des AP au cours de certaines années, notamment en 2014, 2017, 2018 et 2019. En revanche, il est intéressant de noter qu'entre 2013 et 2022, les taux annuels de déforestation les plus bas ont été estimés pendant les années de Covid-19 en 2020 (0,66 %), 2021 (0,62 %) et l'année suivante en 2022 (0,67 %) sur l’ensemble du réseau des 103 AP avec des forêts naturelles

    Nitric oxide synthase 2A (NOS2A) polymorphisms are not associated with invasive pneumococcal disease

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    <p>Abstract</p> <p>Background</p> <p><it>Streptococcus pneumoniae </it>(pneumococcus) is responsible for over one million deaths per year, with young children, the elderly and immunocompromised individuals being most at risk. Approximately half of East African children have been reported to be asymptomatic carriers of pneumococcus with invasive infection occurring after the disruption of the respiratory membrane which is believed to be caused by the host immune response. Racial incidence of invasive pneumococcal disease (IPD) is higher in certain populations even after adjusting for environmental factors suggesting a genetic component to disease susceptibility. The nitric oxide synthase 2A (NOS2A) gene is responsible for the production of nitric oxide under pathological conditions including host defence against bacterial infection. Nitric oxide is a modulator of apoptotic and inflammatory cascades and endothelial permeability. We hypothesised that genetic variants within this gene may predispose to disease risk and survival.</p> <p>Methods</p> <p>A cohort of 299 children with IPD (221 meningitis, 41 pneumonia and 37 with bacteraemia) and 931 age matched controls from Malawi were used in this study. We investigated nine haplotype tagging single nucleotide polymorphisms within the NOS2A gene and compared the presence or absence of the minor alleles in cases and controls and survivors and non-survivors within the cases.</p> <p>Results</p> <p>We observed no significant associations between cases and controls or with survival in either all IPD cases or in the separate analysis of meningitis cases. A near significant association was obtained for the comparison of rs8078340 in cases and controls (p-value, 0.078). However, results were unadjusted for multiple testing.</p> <p>Conclusion</p> <p>Our results suggest that polymorphic variation within the NOS2A gene does not influence invasive pneumococcal disease susceptibility or survival.</p

    Partial silicification of chalk fossils from the Chilterns

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    RESP-624
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