Search results for "WIDE"
showing 10 items of 1235 documents
La suprema giurisdizione nella Sardegna moderna. Travagli della Real Audiencia (1564-1651)
2019
The institution of the Real Audiencia in the kingdom of Sardinia since the 1560s is part of a wider process which saw the rise and development of royal supreme courts of justice in several European countries of the early modern period. In fact, major State formation processes all around Europe required that monarchs increased their control on local authorities and that new increasingly centralised systems of judicial review gained precedence over all particular jurisdictions, feudal as well as municipal. This brought about a dramatic transformation in the field of criminal law enforcement and administration of justice.
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error
2023
Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopi…
Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible suscep…
2014
Item does not contain fulltext Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our disc…
Variants associated with HHIP expression have sex-differential effects on lung function [version 1; peer review: 2 approved]
2020
Background: Lung function is highly heritable and differs between the sexes throughout life. However, little is known about sex-differential genetic effects on lung function. We aimed to conduct the first genome-wide genotype-by-sex interaction study on lung function to identify genetic effects that differ between males and females. Methods: We tested for interactions between 7,745,864 variants and sex on spirometry-based measures of lung function in UK Biobank (N=303,612), and sought replication in 75,696 independent individuals from the SpiroMeta consortium. Results: Five independent single-nucleotide polymorphisms (SNPs) showed genome-wide significant (P<5x10-8) interactions with sex on …
Bayesian estimation of partial population continuity using ancient DNA and spatially explicit simulations.
2017
Abstract The retrieval of ancient DNA from osteological material provides direct evidence of human genetic diversity in the past. Ancient DNA samples are often used to investigate whether there was population continuity in the settlement history of an area. Methods based on the serial coalescent algorithm have been developed to test whether the population continuity hypothesis can be statistically rejected by analysing DNA samples from the same region but of different ages. Rejection of this hypothesis is indicative of a large genetic shift, possibly due to immigration occurring between two sampling times. However, this approach is only able to reject a model of full continuity model (a tot…
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
2023
Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on t…
Challenges of Serendipity in Recommender Systems
2016
Most recommender systems suggest items similar to a user profile, which results in boring recommendations limited by user preferences indicated in the system. To overcome this problem, recommender systems should suggest serendipitous items, which is a challenging task, as it is unclear what makes items serendipitous to a user and how to measure serendipity. The concept is difficult to investigate, as serendipity includes an emotional dimension and serendipitous encounters are very rare. In this paper, we discuss mentioned challenges, review definitions of serendipity and serendipity-oriented evaluation metrics. The goal of the paper is to guide and inspire future efforts on serendipity in r…
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary …
2023
Funder: British Lung Foundation (BLF); doi: https://doi.org/10.13039/501100000351
Separating the Mechanism-Based and Off-Target Actions of Cholesteryl Ester Transfer Protein Inhibitors With CETP Gene Polymorphisms
2010
Background— Cholesteryl ester transfer protein (CETP) inhibitors raise high-density lipoprotein (HDL) cholesterol, but torcetrapib, the first-in-class inhibitor tested in a large outcome trial, caused an unexpected blood pressure elevation and increased cardiovascular events. Whether the hypertensive effect resulted from CETP inhibition or an off-target action of torcetrapib has been debated. We hypothesized that common single-nucleotide polymorphisms in the CETP gene could help distinguish mechanism-based from off-target actions of CETP inhibitors to inform on the validity of CETP as a therapeutic target. Methods and Results— We compared the effect of CETP single-nucleotide polymorphisms …
How build up soil bacterial co-occurrence networks from wide spatial scalesampling?
2019
National audience; Although land use drives soil bacterial diversity and community structure, littleinformation about the bacterial interaction networks is available. Here, we investigatedbacterial co-occurrence networks in soils under different types of land use (forests, grasslands,crops and vineyards) by sampling 1798 sites in the French Soil Quality Monitoring Networkcovering all of France. An increase in bacterial richness was observed from forests tovineyards, whereas network complexity respectively decreased from 16,430 links to 2,046.However, the ratio of positive to negative links within the bacterial networks ranged from 2.9 inforests to 5.5 in vineyards. Networks structure was ce…