7,858 research outputs found
Association of chromosome 9p21 with subsequent coronary heart disease events: A GENIUS-CHD study of individual participant data
No full textBACKGROUND: Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value for stratification of residual risk. METHODS: A variant at chromosome 9p21 (rs1333049) was tested for association with subsequent events during follow-up in 103 357 Europeans with established CHD at baseline from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) Consortium (73.1% male, mean age 62.9 years). The primary outcome, subsequent CHD death or myocardial infarction (CHD death/myocardial infarction), occurred in 13 040 of the 93 115 participants with available outcome data. Effect estimates were compared with case/control risk obtained from the CARDIoGRAMplusC4D consortium (Coronary Artery Disease Genome-wide Replication and Meta-analysis [CARDIoGRAM] plus The Coronary Artery Disease [C4D] Genetics) including 47 222 CHD cases and 122 264 controls free of CHD. RESULTS: Meta-analyses revealed no significant association between chromosome 9p21 and the primary outcome of CHD death/myocardial infarction among those with established CHD at baseline (GENIUSCHD odds ratio, 1.02; 95% CI, 0.99-1.05). This contrasted with a strong association in CARDIoGRAMPlusC4D odds ratio 1.20; 95% CI, 1.18-1.22; P for interaction <0.001 compared with the GENIUS-CHD estimate. Similarly, no clear associations were identified for additional subsequent outcomes, including all-cause death, although we found a modest positive association between chromosome 9p21 and subsequent revascularization (odds ratio, 1.07; 95% CI, 1.04-1.09). CONCLUSIONS: In contrast to studies comparing individuals with CHD to disease-free controls, we found no clear association between genetic variation at chromosome 9p21 and risk of subsequent acute CHD events when all individuals had CHD at baseline. However, the association with subsequent revascularization may support the postulated mechanism of chromosome 9p21 for promoting atheroma development
Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events
No full textBACKGROUND: Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value for stratification of residual risk. METHODS: A variant at chromosome 9p21 (rs1333049) was tested for association with subsequent events during follow-up in 103 357 Europeans with established CHD at baseline from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) Consortium (73.1% male, mean age 62.9 years). The primary outcome, subsequent CHD death or myocardial infarction (CHD death/myocardial infarction), occurred in 13 040 of the 93 115 participants with available outcome data. Effect estimates were compared with case/control risk obtained from the CARDIoGRAMplusC4D consortium (Coronary Artery Disease Genome-wide Replication and Meta-analysis [CARDIoGRAM] plus The Coronary Artery Disease [C4D] Genetics) including 47 222 CHD cases and 122 264 controls free of CHD. RESULTS: Meta-analyses revealed no significant association between chromosome 9p21 and the primary outcome of CHD death/myocardial infarction among those with established CHD at baseline (GENIUS-CHD odds ratio, 1.02; 95% CI, 0.99-1.05). This contrasted with a strong association in CARDIoGRAMPlusC4D odds ratio 1.20; 95% CI, 1.18-1.22; P for interaction <0.001 compared with the GENIUS-CHD estimate. Similarly, no clear associations were identified for additional subsequent outcomes, including all-cause death, although we found a modest positive association between chromosome 9p21 and subsequent revascularization (odds ratio, 1.07; 95% CI, 1.04-1.09). CONCLUSIONS: In contrast to studies comparing individuals with CHD to disease-free controls, we found no clear association between genetic variation at chromosome 9p21 and risk of subsequent acute CHD events when all individuals had CHD at baseline. However, the association with subsequent revascularization may support the postulated mechanism of chromosome 9p21 for promoting atheroma development
A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease
No full textExisting knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association study (GWAS) analysis of common SNPs. Leveraging phased haplotypes from the 1000 Genomes Project, we report a GWAS meta-analysis of ∼185,000 CAD cases and controls, interrogating 6.7 million common (minor allele frequency (MAF) > 0.05) and 2.7 million low-frequency (0.005 < MAF < 0.05) variants. In addition to confirming most known CAD-associated loci, we identified ten new loci (eight additive and two recessive) that contain candidate casual genes newly implicating biological processes in vessel walls. We observed intralocus allelic heterogeneity but little evidence of low-frequency variants with larger effects and no evidence of synthetic association. Our analysis provides a comprehensive survey of the fine genetic architecture of CAD, showing that genetic susceptibility to this common disease is largely determined by common SNPs of small effect size.</p
Identifying small-effect genetic associations overlooked by the conventional fixed-effect model in a large-scale meta-analysis of coronary artery disease
No full textMotivation:
Common small-effect genetic variants that contribute to human complex traits and disease are typically identified using traditional fixed-effect meta-analysis methods. However, the power to detect genetic associations under fixed-effect models deteriorates with increasing hetero-geneity, so that some small-effect heterogeneous loci might go undetected. Han and Eskin devel-oped a modified random-effects meta-analysis approach (RE2) that is more powerful than tradi-tional fixed and random-effects methods at detecting small-effect heterogeneous genetic associa-tions, updating the method (RE2C) to identify small-effect heterogeneous variants overlooked by traditional fixed-effect meta-analysis. Here we re-appraise a large-scale meta-analysis of coronary disease with RE2C to search for small-effect genetic signals potentially masked by heterogeneity in a fixed-effect meta-analysis.
Results:
Our application of RE2C suggests a high sensitivity but low specificity of this approach for discovering small-effect heterogeneous genetic associations. We recommend that reports of small-effect heterogeneous loci discovered with RE2C are accompanied by forest plots and SPRE (standardized predicted random-effects) statistics to reveal the distribution of genetic effect esti-mates across component studies of meta-analyses, highlighting overly influential outlier studies with the potential to inflate genetic signals.</p
New genetic loci link adipose and insulin biology to body fat distribution
No full textBody fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms
Forest plot for independent replication of association between rs4149313 and CAD in CARDIoGRAMplusC4D.
No full text<p>Fixed-effect meta-analysis was applied for effect of rs4149313 on CAD in CARDIoGRAMplusC4D consortium. The diamond in the bottom represents the confidence interval of this independent replication.</p
SHui open data research platform
No full textData collected and revised by individual instutions of the Shui-Consortium. Publication by the EU-China Consortium SHui.For each data-file, the author (institution) of the file is given as “operator”.-- At project end, June 30th, 2022.-- For each data-file, the author/data owner for citation is given as “operator” and “contact”.-- Plot data as .csv; catchment data ad libitum.Spatial situation data: Plot data and catchment data available; country, latitude, and longitude coordinates given.-- Temporal situation data: Long-term and single-season data available. Start and end date for each data file given.CC BY-SA. No embargo. The release on the Shui download site and CSIC repository implies expiration of any embargo delivered by the data owner.Project Co-ordinators: Dr. Jose Alfonso Gómez Calero (Instituto de Agricultura Sostenible (IAS-CISC), Dr. Weifeng Xu (Fujian Agriculture and Forest University, FAFU).This data set contains data from the SHui open-data platform for sharing long-term agricultural experiments aimed to optimizing yield and soil and water. Data and additional material are available under https://shui.boku.ac.at/shui/public/startAlphanumeric data measured at hydrologic and agronomical experiments (e.g., plant development, soil properties, hydrology, erosion, management).Further information on the data, project, partners, and publications under https://www.shui-eu.org/EU-China Consortium SHui: European Union Project 773903 and Chinese MOST.Peer reviewe
Enrichment and characterization of a bacteria consortium capable of heterotrophic nitrification and aerobic denitrification at low temperature
No full textNitrogen removal in wastewater treatment plants is usually severely inhibited under cold temperature. The present study proposes bioaugmentation using psychrotolerant heterotrophic nitrification-aerobic denitrification consortium to enhance nitrogen removal at low temperature. A functional consortium has been successfully enriched by stepped increase in DO concentration. Using this consortium, the specific removal rates of ammonia and nitrate at 10 degrees C reached as high as 3.1 mg N/(g SS h) and 9.6 mg N/ (g SS h), respectively. PCR-DGGE and clone library analysis both indicated a significant reduction in bacterial diversity during enrichment. Phylogenetic analysis based on nearly full-length 16S rRNA genes showed that Alphaproteobacteria. Deltaproteobacteria and particularly Bacteroidetes declined while Gammaproteobacteria (all clustered into Pseudomonas sp.) and Betaproteobacteria (mainly Rhodoferax ferrireducens) became dominant in the enriched consortium. It is likely that Pseudomonas spp. played a major role in nitrification and denitrification, while R. ferrireducens and its relatives utilized nitrate as both electron acceptor and nitrogen source. Crown Copyright (C) 2012 Published by Elsevier Ltd. All rights reserved.</p
Arabic Treebank : Part 2 v 3.1
No full textArabic Treebank: Part 2 (ATB2) v 3.1 , Linguistic Data Consortium (LDC) catalog number LDC2011T09 and isbn 1-58563-590-1, was developed at LDC. It consists of 501 newswire stories from Ummah Press with part-of-speech (POS), morphology, gloss and syntactic treebank annotation in accordance with the Penn Arabic Treebank (PATB) Guidelines developed in 2008 and 2009
Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes (Nature Genetics, (2018), 50, 4, (524-537), 10.1038/s41588-018-0058-3)
No full textIn the HTML version of this article initially published, the author groups ‘AFGen Consortium’, ‘Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium’, ‘International Genomics of Blood Pressure (iGEN-BP) Consortium’, ‘INVENT Consortium’, ‘STARNET’, ‘BioBank Japan Cooperative Hospital Group’, ‘COMPASS Consortium’, ‘EPIC-CVD Consortium’, ‘EPIC-InterAct Consortium’, ‘International Stroke Genetics Consortium (ISGC)’, ‘METASTROKE Consortium’, ‘Neurology Working Group of the CHARGE Consortium’, ‘NINDS Stroke Genetics Network (SiGN)’, ‘UK Young Lacunar DNA Study’ and ‘MEGASTROKE Consortium’ appeared at the end of the author list but should have appeared earlier in the list. In addition, the author group ‘MEGASTROKE Consortium’ was duplicated, and its members were not displayed in the ‘Author information’ section. The errors have been corrected in the HTML version of the article
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