Search results for "LOCI"
showing 10 items of 1277 documents
Genome-Wide Haplotype Analysis of Cis Expression Quantitative Trait Loci in Monocytes
2013
In order to assess whether gene expression variability could be influenced by several SNPs acting in cis, either through additive or more complex haplotype effects, a systematic genome-wide search for cis haplotype expression quantitative trait loci (eQTL) was conducted in a sample of 758 individuals, part of the Cardiogenics Transcriptomic Study, for which genome-wide monocyte expression and GWAS data were available. 19,805 RNA probes were assessed for cis haplotypic regulation through investigation of ∼2,1×109 haplotypic combinations. 2,650 probes demonstrated haplotypic p-values >104-fold smaller than the best single SNP p-value. Replication of significant haplotype effects were tested f…
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
2013
The work conducted at the WTCHG was supported by Wellcome Trust grants [076566/Z/05/Z] and [075491/Z/04]; the work in Zurich partly by an SNSF grant [32-108130]. We also thank MAF (Mutation Analysis core Facility) at the Karolinska Institute, Novum, Huddinge. The French part of the project was funded by Agence Nationale de la Recherche (ANR-06-NEURO-019-01 GENEDYS) and Ville de Paris. S Paracchini is a Royal Society University Research Fellow. D Czamara was supported by the Deutsche Forschungsgemeinschaft (German Research Foundation) within the framework of the Munich Cluster for Systems Neurology (EXC 1010 SyNergy). Dyslexia is one of the most common childhood disorders with a prevalence o…
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
2010
We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10(-8)). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with gen…
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
2013
Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. We further characterized these loci for associations with gout, transcript expression and the fractional…
Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene
2011
The chromosome 16p13 region has been associated with several autoimmune diseases, including type 1 diabetes (T1D) and multiple sclerosis (MS). CLEC16A has been reported as the most likely candidate gene in the region, since it contains the most disease-associated single-nucleotide polymorphisms (SNPs), as well as an imunoreceptor tyrosine-based activation motif. However, here we report that intron 19 of CLEC16A, containing the most autoimmune disease-associated SNPs, appears to behave as a regulatory sequence, affecting the expression of a neighbouring gene, DEXI. The CLEC16A alleles that are protective from T1D and MS are associated with increased expression of DEXI, and no other genes in …
Laboratory Measurements of Flow and Turbulence in Discontinuous Distributions of Ligulate Seagrass
2007
Turbulent flow characteristics were investigated in laboratory flume studies of a ligulate plant canopy interrupted by a gap representing discontinuities observed in seagrass prairies. The reliability of velocity measurements obtained using an acoustic Doppler velocimeter within the canopy was shown using specifically designed experiments. In relatively fast flow (mean velocity 5.5 cm s−1), the mean flow profile was logarithmic above the canopy, had an inflection point near its top, and uniformly low values within it. Within the gap, a recirculation cell formed. Reynolds stress maxima were approximately coincident with the mean flow inflection point. Quadrant analysis revealed an ejection-d…
The automated assesment of artery hemodynamic parameters from ultrasound video
2012
The custom designed video processing software for analysis of B-mode and Doppler-mode ultrasound video has been proposed in this work. The software allows adjusting user-defined thresholds and tolerance levels to enhance contour detection in noisy and artifacted ultrasound images. The developed software is able to evaluate 16 hemodynamic parameters (artery diameter, pulse rate and flow velocity related parameters) in each cardiac cycle. The measurements were performed intermittently recording artery diameter (B-mode) and flow velocity (Doppler-mode). Software has validated in femoral artery measurements. The hemodynamic parameters computed by software were consistent with those obtained by …
Cardiac output following fetoscopic coagulation of major placental vessels in fetal sheep.
2008
Objectives To measure changes in cardiac output (CO) after partial cord occlusion in fetal sheep in order to investigate pathophysiological fetal adaptation mechanisms in a simulated acute placental insufficiency model under standardized conditions, with the aim of finding relevant methods for monitoring human fetuses during stress situations. Methods We used minimally invasive, percutaneous endoscopic techniques to close umbilical vessels in mid-gestational fetal sheep. Placental blood flow was reduced by preferentially closing first arterial and then the concomitant venous umbilical vessels within a short time interval. The investigations were carried out on 11 pregnant ewes at a median g…
[Diagnosis of coronary microvascualar dysfunction in diabetic patients with cardiac syndrome X: comparison by current methods].
2013
The study population included 208 patients with chest pain and uninjured coronary arteries that we split into two populations: diabetics (72 patients) and non-diabetics (136 patients). We split patients with chest pain and uninjured coronary arteries that had a myocardial scintigraphy into two populations: patients with positive scintigraphy and negative. We calculated, on angiographic images of each patient, stored on suitable digital supports, Timi Frame Count (TFC), Myocardial Blush Grade (MBG) and Total Myocardial Blush Score (TMBS) using the protocol described by Gibson and Yusuf. On the basis of Yusuf's experience we imagined a new index: the Total Timi Frame Count as the sum of the t…
Relationship Between Carotid Atherosclerosis and Pulse Pressure with Renal Hemodynamics in Hypertensive Patients.
2015
BACKGROUND Structural atherosclerotic damage, arterial stiffness, pulse pressure (PP), and renal hemodynamics may interact and influence each other. Renal resistance index (RRI) appears as a good indicator of systemic vascular changes. The aim of our study was to assess the independent relationships of carotid intima-media thickness (cIMT), aortic pulse wave velocity (aPWV), and peripheral PP with RRI in hypertensives with various degrees of renal function. METHODS We enrolled 463 hypertensive patients (30-70 years) with normal renal function (group 0; n = 280) and with chronic kidney disease (groups I-V; n = 183). All subjects underwent ultrasonographic examination of intrarenal and caroti…