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Search Results: 1 - 10 of 231721 matches for " Elizabeth R. Hauser "
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The genetic basis for survivorship in coronary artery disease
Jennifer R. Dungan,Elizabeth R. Hauser
Frontiers in Genetics , 2013, DOI: 10.3389/fgene.2013.00191
Abstract: Survivorship is a trait characterized by endurance and virility in the face of hardship. It is largely considered a psychosocial attribute developed during fatal conditions, rather than a biological trait for robustness in the context of complex, age-dependent diseases like coronary artery disease (CAD). The purpose of this paper is to present the novel phenotype, survivorship in CAD as an observed survival advantage concurrent with clinically significant CAD. We present a model for characterizing survivorship in CAD and its relationships with overlapping time- and clinically-related phenotypes. We offer an optimal measurement interval for investigating survivorship in CAD. We hypothesize genetic contributions to this construct and review the literature for evidence of genetic contribution to overlapping phenotypes in support of our hypothesis. We also present preliminary evidence of genetic effects on survival in people with clinically significant CAD from a primary case-control study of symptomatic coronary disease. Identifying gene variants that confer improved survival in the context of clinically appreciable CAD may improve our understanding of cardioprotective mechanisms acting at the gene level and potentially impact patients clinically in the future. Further, characterizing other survival-variant genetic effects may improve signal-to-noise ratio in detecting gene associations for CAD.
A general integrative genomic feature transcription factor binding site prediction method applied to analysis of USF1 binding in cardiovascular disease
Tianyuan Wang, Terrence S Furey, Jessica J Connelly, Shihao Ji, Sarah Nelson, Steffen Heber, Simon G Gregory, Elizabeth R Hauser
Human Genomics , 2009, DOI: 10.1186/1479-7364-3-3-221
Abstract: Several transcription factors (TFs) have been characterised as mediators of complex disease processes [1-3]. Numerous publications have identified single nucleotide polymorphisms (SNPs) in TFs that are significantly associated with coronary artery disease (CAD) [2,4,5]. This combined evidence suggests that the target genes of these TFs also may be associated with human complex disease. Identification of potential TF targets could further our understanding of gene-gene interactions underlying complex disease. Genome-wide experimental methods, such as chromatin immunoprecipitation microarray (ChIP-chip) [6,7], a technique combining chromatin immunoprecipitation and microarray analysis for identifying TF-interacting genomic regions, are time consuming and expensive. It would be more efficient to develop an in silico computational method for TF target prediction followed by less costly genotyping and more focused molecular biology experiments to identify the association between gene-gene interactions and complex disease.TFs play important roles in the transcriptional regulation of genes by interacting with specific DNA sequences, called transcription factor binding sites (TFBSs), to control cell- and tissue-specific gene expression. Accurately identifying TFBSs is critical to our understanding of the biological regulation of the cell. Although many partially complete genome sequences are available, encoded functional elements such as TFBSs have not been fully characterised. This is due, in part, to the complexity of TF binding activity and the degeneracy of the DNA sequence in the core binding site.Currently, the primary strategy for predicting TFBSs is by DNA motif scanning, which uses DNA sequence motifs to identify potential matching sequences across the genome [8-10]. The common approaches of motif scanning are based on either consensus sequences or binding site matrices. The consensus sequence approach works best on sites that have little degeneracy. The other appr
An assessment of survey measures used across key epidemiologic studies of United States Gulf War I era Veterans
Rebecca B McNeil, Catherine M Thomas, Steven S Coughlin, Elizabeth Hauser, Grant D Huang, Karen M Goldstein, Marcus R Johnson, Tyra Dunn-Thomas, Dawn T Provenzale
Environmental Health , 2013, DOI: 10.1186/1476-069x-12-4
Abstract:
Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser
Judith E Stenger, Hong Xu, Carol Haynes, Elizabeth R Hauser, Margaret Pericak-Vance, Pascal J Goldschmidt-Clermont, Jeffery M Vance
BMC Bioinformatics , 2005, DOI: 10.1186/1471-2105-6-95
Abstract: Statistical Viewer is an add-on package to the open-source Ensembl Genome Browser and Annotation System that displays disease study-specific linkage and/or association data as 2 dimensional plots in new panels in the context of Ensembl's Contig View and Cyto View pages. An enhanced upload server facilitates the upload of statistical data, as well as additional feature annotation to be displayed in DAS tracts, in the form of Excel Files. The Statistical View panel, drawn directly under the ideogram, illustrates lod score values for markers from a study of interest that are plotted against their position in base pairs. A module called "Get Map" easily converts the genetic locations of markers to genomic coordinates. The graph is placed under the corresponding ideogram features a synchronized vertical sliding selection box that is seamlessly integrated into Ensembl's Contig- and Cyto- View pages to choose the region to be displayed in Ensembl's "Overview" and "Detailed View" panels. To resolve Association and Fine mapping data plots, a "Detailed Statistic View" plot corresponding to the "Detailed View" may be displayed underneath.Features mapping to regions of linkage are accentuated when Statistic View is used in conjunction with the Distributed Annotation System (DAS) to display supplemental laboratory information such as differentially expressed disease genes in private data tracks. Statistic View is a novel and powerful visual feature that enhances Ensembl's utility as valuable resource for integrative genomic-based approaches to the identification of candidate disease susceptibility genes. At present there are no other tools that provide for the visualization of 2-dimensional plots of quantitative data scores against genomic coordinates in the context of a primary public genome annotation browser.The availability of the complete DNA sequence of the human genome, along with advances in gene expression, proteomics, metabolomics technology and bioinformatics database
Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system
Lori A Orlando, Elizabeth R Hauser, Carol Christianson, Karen P Powell, Adam H Buchanan, Blair Chesnut, Astrid B Agbaje, Vincent C Henrich, Geoffrey Ginsburg
BMC Health Services Research , 2011, DOI: 10.1186/1472-6963-11-264
Abstract: The family health history system collects a three generation family history on 48 conditions and provides decision support (pedigree and tabular family history, provider recommendation report and patient summary report) for 4 pilot conditions: breast cancer, ovarian cancer, colon cancer, and thrombosis. All adult English-speaking, non-adopted, patients scheduled for well-visits are invited to complete the family health system prior to their appointment. Decision support documents are entered into the medical record and available to provider's prior to the appointment. In order to optimize integration, components were piloted by stakeholders prior to and during implementation. Primary outcomes are change in appropriate testing for hereditary thrombophilia and screening for breast cancer, colon cancer, and ovarian cancer one year after study enrollment. Secondary outcomes include implementation measures related to the benefits and burdens of the family health system and its impact on clinic workflow, patients' risk perception, and intention to change health related behaviors. Outcomes are assessed through chart review, patient surveys at baseline and follow-up, and provider surveys. Clinical validity of the decision support is calculated by comparing its recommendations to those made by a genetic counselor reviewing the same pedigree; and clinical utility is demonstrated through reclassification rates and changes in appropriate screening (the primary outcome).This study integrates a computerized family health history system within the context of a routine well-visit appointment to overcome many of the existing barriers to collection and use of family history information by primary care providers. Results of the implementation process, its acceptability to patients and providers, modifications necessary to optimize the system, and impact on clinical care can serve to guide future implementation projects for both family history and other tools of personalized medicine,
Genome-Wide Linkage Scan for Primary Open Angle Glaucoma: Influences of Ancestry and Age at Diagnosis
Kristy R. Crooks, R. Rand Allingham, Xuejun Qin, Yutao Liu, Jason R. Gibson, Cecilia Santiago-Turla, Karen R. Larocque-Abramson, Elizabeth Del Bono, Pratap Challa, Leon W. Herndon, Stephen Akafo, Janey L. Wiggs, Silke Schmidt, Michael A. Hauser
PLOS ONE , 2011, DOI: 10.1371/journal.pone.0021967
Abstract: Primary open-angle glaucoma (POAG) is the most common form of glaucoma and one of the leading causes of vision loss worldwide. The genetic etiology of POAG is complex and poorly understood. The purpose of this work is to identify genomic regions of interest linked to POAG. This study is the largest genetic linkage study of POAG performed to date: genomic DNA samples from 786 subjects (538 Caucasian ancestry, 248 African ancestry) were genotyped using either the Illumina GoldenGate Linkage 4 Panel or the Illumina Infinium Human Linkage-12 Panel. A total of 5233 SNPs was analyzed in 134 multiplex POAG families (89 Caucasian ancestry, 45 African ancestry). Parametric and non-parametric linkage analyses were performed on the overall dataset and within race-specific datasets (Caucasian ancestry and African ancestry). Ordered subset analysis was used to stratify the data on the basis of age of glaucoma diagnosis. Novel linkage regions were identified on chromosomes 1 and 20, and two previously described loci—GLC1D on chromosome 8 and GLC1I on chromosome 15—were replicated. These data will prove valuable in the context of interpreting results from genome-wide association studies for POAG.
Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12
Silke Schmidt, William K Scott, Eric A Postel, Anita Agarwal, Elizabeth R Hauser, Monica A De La Paz, John R Gilbert, Daniel E Weeks, Michael B Gorin, Jonathan L Haines, Margaret A Pericak-Vance
BMC Genetics , 2004, DOI: 10.1186/1471-2156-5-18
Abstract: Using a correction for testing multiple covariates, statistically significant lod score increases were observed for two chromosomal regions: 14q13 with a lod score of 3.2 in 28 families with average IOP ≤ 15.5 (p = 0.002), and 6q14 with a lod score of 1.6 in eight families with average BMI ≥ 30.1 (p = 0.0004). On chromosome 16p12, nominally significant lod score increases (p ≤ 0.05), up to a lod score of 2.9 in 32 families, were observed with several covariate orderings. While less significant, this was the only region where linkage evidence was associated with multiple clinically meaningful covariates and the only nominally significant finding when analysis was restricted to advanced forms of AMD. Families with linkage to 16p12 had higher averages of SBP, IOP and BMI and were primarily affected with neovascular AMD. For all three regions, linkage signals at or very near the peak marker have previously been reported.Our results suggest that a susceptibility gene on chromosome 16p12 may predispose to AMD, particularly to the neovascular form, and that further research into the previously suggested association of neovascular AMD and systemic hypertension is warranted.Age-related macular degeneration (AMD) affects the central region of the retina (macula), which has the highest concentration of cone photoreceptors and is responsible for central visual acuity. In developed nations, it is the most common cause of irreversible blindness in older adults. Approximately 4% of individuals over 60 years of age and 10% of those over 75 years of age have advanced stages of the disorder, which include geographic atrophy (dry AMD) and neovascular (wet) AMD [1]. While both forms lead to loss of central vision, it is more common and occurs more rapidly with neovascular AMD. It is unknown whether the two clinical subtypes have a distinct etiology, but longitudinal studies have shown that the presence of large soft drusen, which are extensive extracellular protein/lipid deposits in th
A Functional Polymorphism in the 5HTR2C Gene Associated with Stress Responses Also Predicts Incident Cardiovascular Events
Beverly H. Brummett, Michael A. Babyak, Rong Jiang, Svati H. Shah, Richard C. Becker, Carol Haynes, Megan Chryst-Ladd, Damian M. Craig, Elizabeth R. Hauser, Ilene C. Siegler, Cynthia M. Kuhn, Abanish Singh, Redford B. Williams
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0082781
Abstract: Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (rs6318) of the 5HTR2C gene located on the X-chromosome is associated with hypothalamic-pituitary-adrenal axis response to a stress recall task, and with endophenotypes associated with cardiovascular disease (CVD). These findings suggest that individuals carrying the rs6318 Ser23 C allele will be at higher risk for CVD compared to Cys23 G allele carriers. The present study examined allelic variation in rs6318 as a predictor of coronary artery disease (CAD) severity and a composite endpoint of all-cause mortality or myocardial infarction (MI) among Caucasian participants consecutively recruited through the cardiac catheterization laboratory at Duke University Hospital (Durham, NC) as part of the CATHGEN biorepository. Study population consisted of 6,126 Caucasian participants (4,036 [65.9%] males and 2,090 [34.1%] females). A total of 1,769 events occurred (1,544 deaths and 225 MIs; median follow-up time = 5.3 years, interquartile range = 3.3–8.2). Unadjusted Cox time-to-event regression models showed, compared to Cys23 G carriers, males hemizygous for Ser23 C and females homozygous for Ser23C were at increased risk for the composite endpoint of all-cause death or MI: Hazard Ratio (HR) = 1.47, 95% confidence interval (CI) = 1.17, 1.84, p = .0008. Adjusting for age, rs6318 genotype was not related to body mass index, diabetes, hypertension, dyslipidemia, smoking history, number of diseased coronary arteries, or left ventricular ejection fraction in either males or females. After adjustment for these covariates the estimate for the two Ser23 C groups was modestly attenuated, but remained statistically significant: HR = 1.38, 95% CI = 1.10, 1.73, p = .005. These findings suggest that this functional polymorphism of the 5HTR2C gene is associated with increased risk for CVD mortality and morbidity, but this association is apparently not explained by the association of rs6318 with traditional risk factors or conventional markers of atherosclerotic disease.
Lexical Processing in Deaf Readers: An fMRI Investigation of Reading Proficiency
David P. Corina, Laurel A. Lawyer, Peter Hauser, Elizabeth Hirshorn
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0054696
Abstract: Individuals with significant hearing loss often fail to attain competency in reading orthographic scripts which encode the sound properties of spoken language. Nevertheless, some profoundly deaf individuals do learn to read at age-appropriate levels. The question of what differentiates proficient deaf readers from less-proficient readers is poorly understood but topical, as efforts to develop appropriate and effective interventions are needed. This study uses functional magnetic resonance imaging (fMRI) to examine brain activation in deaf readers (N = 21), comparing proficient (N = 11) and less proficient (N = 10) readers’ performance in a widely used test of implicit reading. Proficient deaf readers activated left inferior frontal gyrus and left middle and superior temporal gyrus in a pattern that is consistent with regions reported in hearing readers. In contrast, the less-proficient readers exhibited a pattern of response characterized by inferior and middle frontal lobe activation (right>left) which bears some similarity to areas reported in studies of logographic reading, raising the possibility that these individuals are using a qualitatively different mode of orthographic processing than is traditionally observed in hearing individuals reading sound-based scripts. The evaluation of proficient and less-proficient readers points to different modes of processing printed English words. Importantly, these preliminary findings allow us to begin to establish the impact of linguistic and educational factors on the neural systems that underlie reading achievement in profoundly deaf individuals.
Brownian motion, ionic flux, catalytic reaction and heterogeneous nucleation in biological systems
P. C. T. Dajello,P. R. Hauser
Physics , 2002,
Abstract: A model to describe the arising of new structures in an initial homogeneous biological system is proposed. The essay is motivated by the intention to work on a non-equilibrium situation grouping together several mechanisms and processes as: catalytic reactions on a surface, diffusion, stimulated migration and selective heterogeneous reaction. A model for morphogenesis in early embryos is developed on two basic assumptions; (i) the existence of an electrified surface that defines the shape (form) of the growing structure and (ii) a mechanism to select morphogens (ions or free radicals) from an initially homogeneous medium. The homogeneity is broke when an electric potential arise between different parcels of the system, triggering a complex dynamic that drive the development of material deposits into localized regions of the space. The evolution of the deposits is described by a stochastic formalism allowing for analytical expressions relating macroscopic.
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