216 research outputs found
The Interleukin-1 (IL-1) Superfamily Cytokines and Their Single Nucleotide Polymorphisms (SNPs)
TrainMiC® Presentations Translated in Albanian
TrainMiC® is a European programme for life-long learning about how to interpret the metrological requirements in chemistry. It is operational across many parts of Europe via national teams. These teams use shareware pedagogic tools which have been harmonized at European level by a joint effort of many experts across Europe working in an editorial board. The material has been translated into fourteen different languages. In this publication, TrainMiC® presentations translated in Albanian language by the Albanian TrainMiC® team are published.JRC.D.3-Knowledge Transfer and Standards for Securit
TrainMiC® Presentations Translated in Serbian
TrainMiC® is a European programme for life-long learning about how to interpret the metrological requirements in chemistry. It is operational across many parts of Europe via national teams. These teams use shareware pedagogic tools which have been harmonized at European level by a joint effort of many experts across Europe working in an editorial board. The material has been translated into fourteen different languages. In this publication, TrainMiC® presentations translated in Serbian language by the Serbian TrainMiC® team are published.JRC.D.3-Knowledge Transfer and Standards for Securit
TrainMiC® Presentations Translated in Spanish
TrainMiC® is a European programme for life-long learning about how to interpret the metrological requirements in chemistry. It is operational across many parts of Europe via national teams. These teams use shareware pedagogic tools which have been harmonized at European level by a joint effort of many experts across Europe working in an editorial board. The material has been translated into fourteen different languages. In this publication, TrainMiC® presentations translated in Spanish language by the Spanish TrainMiC® team are published.JRC.D.3-Knowledge Transfer and Standards for Securit
TrainMiC® Presentations Translated in Portuguese
TrainMiC® is a European programme for life-long learning about how to interpret the metrological requirements in chemistry. It is operational across many parts of Europe via national teams. These teams use shareware pedagogic tools which have been harmonized at European level by a joint effort of many experts across Europe working in an editorial board. The material has been translated into fourteen different languages. In this publication, TrainMiC® presentations translated in Portuguese language by the Portuguese TrainMiC® team are published.JRC.D.3-Knowledge Transfer and Standards for Securit
Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium : an application of Item Response Theory
Peer reviewe
Rationale and study design for an individualized perioperative open lung ventilatory strategy (iPROVE): study protocol for a randomized controlled trial
Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation
Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the genetic basis of atrial fibrillation, we performed large-scale, trans-ancestry meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 17,931 individuals with atrial fibrillation and 115,142 referents; the exome-wide association studies (ExWAS) and rare variant association studies (RVAS) involved 22,346 cases and 132,086 referents. We identified 12 new genetic loci that exceeded genome-wide significance, implicating genes involved in cardiac electrical and structural remodeling. Our results nearly double the number of known genetic loci for atrial fibrillation, provide insights into the molecular basis of atrial fibrillation, and may facilitate the identification of new potential targets for drug discovery
Meta-analysis of genome-wide association studies for extraversion:Findings from the Genetics of Personality Consortium
Extraversion is a relatively stable and heritable personality trait associated with numerous psychosocial, lifestyle and health outcomes. Despite its substantial heritability, no genetic variants have been detected in previous genome-wide association (GWA) studies, which may be due to relatively small sample sizes of those studies. Here, we report on a large meta-analysis of GWA studies for extraversion in 63,030 subjects in 29 cohorts. Extraversion item data from multiple personality inventories were harmonized across inventories and cohorts. No genome-wide significant associations were found at the single nucleotide polymorphism (SNP) level but there was one significant hit at the gene level for a long non-coding RNA site (LOC101928162). Genome-wide complex trait analysis in two large cohorts showed that the additive variance explained by common SNPs was not significantly different from zero, but polygenic risk scores, weighted using linkage information, significantly predicted extraversion scores in an independent cohort. These results show that extraversion is a highly polygenic personality trait, with an architecture possibly different from other complex human traits, including other personality traits. Future studies are required to further determine which genetic variants, by what modes of gene action, constitute the heritable nature of extraversion
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to similar to 370,000 women, we identify 389 independent signals (P <5 x 10(-8)) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain similar to 7.4% of the population variance in age at menarche, corresponding to similar to 25% of the estimated heritability. We implicate similar to 250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues. Rare variants near the imprinted genes MKRN3 and DLK1 were identified, exhibiting large effects when paternally inherited. Mendelian randomization analyses suggest causal inverse associations, independent of body mass index (BMI), between puberty timing and risks for breast and endometrial cancers in women and prostate cancer in men. In aggregate, our findings highlight the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility
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