Search results for " ASSOCIATION"
showing 10 items of 996 documents
Functional genomics indicate that schizophrenia may be an adult vascular-ischemic disorder
2015
AbstractIn search for the elusive schizophrenia pathway, candidate genes for the disorder from a discovery sample were localized within the energy-delivering and ischemia protection pathway. To test the adult vascular-ischemic (AVIH) and the competing neurodevelopmental hypothesis (NDH), functional genomic analyses of practically all available schizophrenia-associated genes from candidate gene, genome-wide association and postmortem expression studies were performed. Our results indicate a significant overrepresentation of genes involved in vascular function (P<0.001), vasoregulation (that is, perivascular (P<0.001) and shear stress (P<0.01), cerebral ischemia (P<0.001), neurode…
Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women.
2009
The post-partum period is a time of extreme vulnerability for a whole spectrum of psychiatric disorders. Delivery may be considered an important risk factor in genetically susceptible women. Five hundred and eight SNPs in 44 genes at candidate pathways putatively related to mood changes after delivery were genotyped in a multicenter cohort of 1804 women from Spain. Participants completed two scales at 2-3 days, 8 weeks, and 32 weeks post-partum, the Edinburgh Post-partum Depression Scale (EPDS) and the Spielberger State-Trait Anxiety Inventory (STAI). Those women who scored 9 or more on EPDS were evaluated for major depression using the Diagnostic Interview for Genetics Studies (DIGS) adapt…
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23
2021
Abstract Aims Our objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart failure. Methods and results We conducted the largest genome-wide association study performed so far in DCM, with 2719 cases and 4440 controls in the discovery population. We identified and replicated two new DCM-associated loci on chromosome 3p25.1 [lead single-nucleotide polymorphism (SNP) rs62232870, P = 8.7 × 10−11 and 7.7 × 10−4 in the discovery and replication steps, respectively] and chromosome 22q11.23 (lead SNP rs7284877, P = 3.3 × 10−8 and 1.4 × 10−3 in the discovery and replication steps, respectively), while confirming two previously identif…
PNPLA3 GG genotype and carotid atherosclerosis in patients with non-alcoholic fatty liver disease.
2013
Background and Aim To evaluate if the presence of carotid atherosclerosis in patients with NAFLD, could be related to gene variants influencing hepatic fat accumulation and the severity of liver damage. Methods We recorded anthropometric, metabolic and histological data(Kleiner score) of 162 consecutive, biopsy-proven Sicilian NAFLD patients. Intima-media thickness(IMT), IMT thickening(IMT≥1 mm) and carotid plaques(focal thickening of >1.3 mm at the level of common carotid artery) were evaluated using ultrasonography. IL28B rs12979860 C>T, PNPLA3 rs738409 C>G, GCKR rs780094 C>T, LYPLAL1 rs12137855 C>T, and NCAN rs2228603 C>T single nucleotide polymorphisms were also assessed. The results we…
The impact of preoperative neurological symptom severity on postoperative outcomes in cervical spondylotic myelopathy
2021
Study Design: The study design is a retrospective cohort study.Objective: To compare patient-reported outcomes between patients with mild versus moderate-to-severe myelopathy following surgery for cervical spondylotic myelopathy (CSM).Summary of Background Data: Recent studies have demonstrated that decompression for CSM leads to improved quality of life when measured by patient-reported outcomes. However, it is unknown if preoperative myelopathy classification is predictive of superior postoperative improvements.Materials and Methods: A retrospective review of patients treated surgically for CSM at a single institution from 2014 to 2015 was performed. Preoperative myelopathy severity was c…
The reluctant polymorph: investigation into the effect of self-association on the solvent mediated phase transformation and nucleation of theophylline
2015
Little is known concerning the pathway of the crystallization of the thermodynamically stable polymorph of theophylline, form IV. Here we study the reasons why the thermodynamically stable theophylline form IV can be obtained only by slow, solvent mediated phase transformation (SMPT) in specific solvents, and whether the presence of prenucleation aggregates affect the polymorphic outcome. Solution concentration, polymorphic composition and morphology were monitored over time during the transformation from form II to form IV in several solvents. NMR and FTIR spectroscopy were used to detect prenucleation molecular aggregates present in the solutions. It was determined that theophylline self-…
Child-centered and teacher-directed practices in relation to calculation and word problem solving skills
2019
Abstract This study examined transactional associations between classroom-level math skills and teaching practices. Participants were 523 children from 31 classrooms. Math skills were assessed three times. Teaching practices were observed in Grades 1 and 3. Child-centered practices promoted subsequent calculation skills whereas teacher-directed practices were associated with a lower level of calculation skills. Higher problem-solving skills at Grade 2 predicted more child-centered practices and less teacher-directed practices in third grade. Moreover, calculation skills mediated the effect of child-centered practices on problem-solving skills. The results suggest that teaching practices and…
Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci
2011
Primary sclerosing cholangitis (PSC) is a chronic bile duct disease affecting 2.4-7.5% of individuals with inflammatory bowel disease. We performed a genome-wide association analysis of 2,466,182 SNPs in 715 individuals with PSC and 2,962 controls, followed by replication in 1,025 PSC cases and 2,174 controls. We detected non-HLA associations at rs3197999 in MST1 and rs6720394 near BCL2L11 (combined P = 1.1 x 10(-16) and P = 4.1 x 10(-8), respectively).
Chromosome painting of the pygmy tree shrew shows that no derived cytogenetic traits link primates and scandentia.
2012
We hybridized human chromosome paints on metaphases of the pygmy tree shrew (<i>Tupaia minor</i>, Scandentia). The lack of the ancestral mammalian 4/8 association in both Primates and Scandentia was long considered a cytogenetic landmark that phylogenetically linked these mammalian orders. However, our results show that the association 4/8 is present in <i>Tupaia </i>along with not previously reported associations for 1/18 and 7/10. Altogether there are 11 syntenic associations of human chromosome segments in the pygmy tree shrew karyotype: 1/18, 2/21, 3/21, 4/8, 7/10, 7/16, 11/20, 12/22 (twice), 14/15 and 16/19. Our data remove any cytogenetic evidence that Scandent…
Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32
2010
To identify susceptibility loci for non-Hodgkin lymphoma subtypes, we conducted a three-stage genome-wide association study. We identified two variants associated with follicular lymphoma at 6p21.32 (rs10484561, combined P = 1.12 × 10-29 and rs7755224, combined P = 2.00 × 10-19; r2 = 1.0), supporting the idea that major histocompatibility complex genetic variation influences follicular lymphoma susceptibility. We also found confirmatory evidence of a previously reported association between chronic lymphocytic leukemia/small lymphocytic lymphoma and rs735665 (combined P = 4.24 × 10-9). © 2010 Nature America, Inc. All rights reserved.