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Computational Strategies To Investigate The Genetic Cause Of Human Eye Disease, Wesley Andrew Goar May 2019

Computational Strategies To Investigate The Genetic Cause Of Human Eye Disease, Wesley Andrew Goar

Theses and Dissertations

It is estimated that 4000 genetic diseases/syndromes affect humans with one third of these diseases involving the eye. Many eye disorders, such as age-related macular degeneration that affects an estimated 170 million elderly adults worldwide, are associated with genetic variants. Since the conception of the human genome project we have learned a great deal about the genetic make-up of the human race and have identified over ~20,000 genes. Over 270 of these genes have been implicated in retinal diseases alone with many more genes involved in other forms of ocular disease. Though we have made a great deal ...


Genome-Wide Systems Genetics Of Alcohol Consumption And Dependence, Kristin Mignogna Jan 2019

Genome-Wide Systems Genetics Of Alcohol Consumption And Dependence, Kristin Mignogna

Theses and Dissertations

Widely effective treatment for alcohol use disorder is not yet available, because the exact biological mechanisms that underlie this disorder are not completely understood. One way to gain a better understanding of these mechanisms is to examine the genetic frameworks that contribute to the risk for developing this disorder. This dissertation examines genetic association data in combination with gene expression networks in the brain to identify functional groups of genes associated with alcohol consumption and dependence.

The first study took advantage of the behavioral complexity of human samples, and experimental capabilities provided by mouse models, by co-analyzing gene expression networks ...


Evaluation Of Genetic And Environmental Influences On Broiler Meat Quality, Sara Katherine Orlowski Dec 2018

Evaluation Of Genetic And Environmental Influences On Broiler Meat Quality, Sara Katherine Orlowski

Theses and Dissertations

The effect of both genetic and environmental influences on broiler meat quality were evaluated over three experiments. Selection response was assessed for broiler lines selected for high (HBY4) and low (LBY4) four day percentage breast yield which were formed from a random bred control (RAN). A modern random bred population (MRB) created in 2015 was evaluated for differences in 4 day percentage breast yield and the resulting differences in the incidence and severity of the woody breast and white striping myopathies. Additionally, the use of embryonic thermal manipulation to impact cell division and early caloric feed restriction to slow growth ...


Linkage Mapping For Soybean (Glycine Max) Flood Tolerance, Wade Stiles Hummer Dec 2018

Linkage Mapping For Soybean (Glycine Max) Flood Tolerance, Wade Stiles Hummer

Theses and Dissertations

Flood tolerance in soybean (Glycine max) is not a well-characterized trait, yet flooding damage is second only to drought stress in terms of yield reduction. The objectives of this study were to determine genetic variation for flooding tolerance in two populations of soybean recombinant inbred lines (RILs) and to identify and confirm flood tolerant QTL. Population A (WHA) consisted of 111 RILs derived from the cross 5002T by 91210-350 and Population B (WHB) consisted of 79 RILs from the cross RA-452 by Osage. Experiments were conducted at the Rice Research and Extension Center (RREC) near Stuttgart, AR in 2015 and ...


Molecular Survey For The Honey Bee Trypanosome Parasites Crithidia Mellificae And Lotmaria Passim, Mary-Kate Williams Aug 2018

Molecular Survey For The Honey Bee Trypanosome Parasites Crithidia Mellificae And Lotmaria Passim, Mary-Kate Williams

Theses and Dissertations

Honey bee populations have been fluctuating within recent years. No one cause has been attributed to colony fluctuations due to the theory that multiple stressors interact with one another to impact colony health. Consequently, microorganisms such as internal parasites of honey bees have been understudied as a contributor to colony health decline.

Molecular diagnostics were utilized to detect the presence of two honey bee trypanosome parasites, Crithidia mellificae and Lotmaria passim, in managed and feral honey bee populations from eight states in the United States (USA). Because studies on trypanosome infections are lacking in the USA, it is important to ...


Structural And Functional Brain Connectivity In Middle-Aged Carriers Of Risk Alleles For Alzheimer's Disease, Laura Korthauer Aug 2018

Structural And Functional Brain Connectivity In Middle-Aged Carriers Of Risk Alleles For Alzheimer's Disease, Laura Korthauer

Theses and Dissertations

Single nucleotide polymorphisms (SNPs) in APOE, COMT, BDNF, and KIBRA have been associated with age-related memory performance and executive functioning as well as risk for Alzheimer’s disease (AD). The purpose of the present investigation was to characterize differences in brain functional and structural integrity associated with these SNPs as potential endophenotypes of age-related cognitive decline. I focused my investigation on healthy, cognitively normal middle-aged adults, as disentangling the early effects of healthy versus pathological aging in this group may aid early detection and prevention of AD. The aims of the study were 1) to characterize SNP-related differences in functional ...


Hpa Axis Genetic Variation And Life Stress Influences On Functional Connectivity In Resting State Networks, Tara Ann Miskovich Aug 2018

Hpa Axis Genetic Variation And Life Stress Influences On Functional Connectivity In Resting State Networks, Tara Ann Miskovich

Theses and Dissertations

Stressful or traumatic experiences are a key risk factor for developing psychopathology, primarily through the impact that chronic stress has on hypothalamic-pituitary-adrenal (HPA) axis functioning. The HPA axis regulates the stress response but can become dysregulated with chronic activation and impact brain functioning. In addition to environmental stressors, genetic variation in genes in the HPA axis appear to influence HPA axis functioning and is also related to disruption in brain functioning, particularly in the context of high life stress. The current study focused on examining potential mechanisms through which trauma and stress interacts with HPA axis genes to impact key ...


Investigation Of Bacterial Taxa As Biomarkers Of Fescue Toxicosis And Heat Stress In Grazing Beef Cows, Sarah Katherine Chewning Aug 2018

Investigation Of Bacterial Taxa As Biomarkers Of Fescue Toxicosis And Heat Stress In Grazing Beef Cows, Sarah Katherine Chewning

Theses and Dissertations

Fescue toxicosis in grazing beef cattle is caused by consumption of Ergot alkaloids associated with tall fescue (toxic fescue) and is responsible for substantial economic loss to the U.S. beef industry. Cattle consuming toxic fescue suffer adverse physiological responses, such as: hyperthermia, increased respiration rate (RR), poor reproduction and growth performance. Other adverse responses to fescue toxins include the retention of a winter hair coat and vasoconstriction in the extremities, which can lead to tissue necrosis. Identifying cattle with reduced susceptibility to fescue toxins would allow for efficient use of fescue pastures; thus, the objectives of this thesis was ...


Genetic Basis For Elevated Rheumatic Heart Disease Susceptibility In Samoa, John Bowen Allen Jul 2018

Genetic Basis For Elevated Rheumatic Heart Disease Susceptibility In Samoa, John Bowen Allen

Theses and Dissertations

Rheumatic heart disease is an inflammatory heart disease that affects millions of people around the world. Especially high rates of the disease can be found in Oceania, including the island nation of Samoa. Genetic studies of immune response genes have provided insight into a possible genetic link to increased susceptibility to rheumatic heart disease, including the genes that code for the toll-like receptor (TLR) protein family. One of the functions of TLR proteins is to recognize the presence of bacteria via identification of bacterial flagella. My evaluation of a Samoan family identified a variant in the TLR-5 gene that would ...


Precision Health And Deafness–Optimizing Genetic Diagnosis, Christina Marie Sloan-Heggen May 2018

Precision Health And Deafness–Optimizing Genetic Diagnosis, Christina Marie Sloan-Heggen

Theses and Dissertations

Deafness is the most common sensory deficit in humans. In the United States 1-2 in a thousand babies is born with significant deafness, well over half of which is hereditary. Providing a patient and their family with a genetic diagnosis is the ultimate form of precision health and medicine; it can provide education, impact medical testing and treatment, provide peace of mind, and someday will be the key to providing gene specific therapies. Historically, providing this diagnosis was difficult, expensive, and time consuming due to the extreme clinical and genetic heterogeneity of non-syndromic hearing loss (NSHL).

Targeted genomic enrichment and ...


Natural And Anthropogenic Drivers Of Tree Evolutionary Dynamics, Brandon M. Lind Jan 2018

Natural And Anthropogenic Drivers Of Tree Evolutionary Dynamics, Brandon M. Lind

Theses and Dissertations

Species of trees inhabit diverse and heterogeneous environments, and often play important ecological roles in such communities. As a result of their vast ecological breadth, trees have become adapted to various environmental pressures. In this dissertation I examine various environmental factors that drive evolutionary dynamics in threePinusspecies in California and Nevada, USA. In chapter two, I assess the role of management influence of thinning, fire, and their interaction on fine-scale gene flow within fire-suppressed populations of Pinus lambertiana, a historically dominant and ecologically important member of mixed-conifer forests of the Sierra Nevada, California. Here, I find evidence that ...


Molecular Brain Adaptations To Ethanol: Role Of Glycogen Synthase Kinase-3 Beta In The Transition To Excessive Consumption, Andrew D. Van Der Vaart Jan 2018

Molecular Brain Adaptations To Ethanol: Role Of Glycogen Synthase Kinase-3 Beta In The Transition To Excessive Consumption, Andrew D. Van Der Vaart

Theses and Dissertations

Alcoholism is a complex neuropsychiatric disease that is characterized by compulsive alcohol use and intensifying cravings and withdrawals, often culminating in physiologic dependency. Fundamental alterations in brain chemistry underlie the transition from initial ethanol exposure to repetitive excessive use. Key mediators of this adaptation include changes in gene expression and signal transduction. Here we investigated gene expression pathways in prefrontal cortex and nucleus accumbens following acute or chronic ethanol treatment, to identify genes with potentially conserved involvement in the long-term response of the corticolimbic system to repeated ethanol exposure. We investigated Gsk3b, which encodes glycogen synthase kinase 3-beta, as a ...


Genome Wide Association And Next Generation Sequencing Approaches To Map Determinants Of Ascites In Broiler Chickens, Shatovisha Dey Aug 2017

Genome Wide Association And Next Generation Sequencing Approaches To Map Determinants Of Ascites In Broiler Chickens, Shatovisha Dey

Theses and Dissertations

These studies have investigated different candidate genomic regions for their contributions to ascites in broilers. Ascites syndrome is a manifestation of idiopathic pulmonary arteriole hypertension that concerns the poultry industry worldwide. Investigations have demonstrated the disease to be genetically regulated and to exhibit moderate to high heritabilities. Although previous studies have indicated a few chromosomes to be involved with ascites, no genes have been identified to date with direct links to the disease. This dissertation presents a collection of studies that determine the genomic and genetic interactions for regions on chromosome 2 and 9 for ascites phenotypes in broiler chickens ...


Role Of Mitochondrial Beta-Oxidation In Ethanol Response: A Candidate Gene Study Using Caenorhabditis Elegans, Harini Pallikarana Tirumala Jan 2017

Role Of Mitochondrial Beta-Oxidation In Ethanol Response: A Candidate Gene Study Using Caenorhabditis Elegans, Harini Pallikarana Tirumala

Theses and Dissertations

Alcohol use disorder (AUD) is the fourth leading cause of preventable death in the United States, and the fifth leading risk factor for premature death and disability, globally. There are currently very few treatment options for AUD and there is a need for effective preventive and treatment strategies for this condition. AUD risk has a significant hereditary component, with the contribution of genetic factors being estimated to be about 50%. The Davies-Bettinger laboratory uses C. elegans as a model organism to study the contribution of genetic factors in modulating neuronal responses to ethanol. In this project, we examined the role ...


Investigation On Genetic Modifiers Of Age At Onset Of Major Depressive Disorder, Huseyin Gedik Jan 2017

Investigation On Genetic Modifiers Of Age At Onset Of Major Depressive Disorder, Huseyin Gedik

Theses and Dissertations

Major Depressive Disorder (MDD) is a complex multifactorial disorder, which would lead to disability. Environmental and genetic factors are involved in MDD etiology. The aim of this project was to identify loci modifying age at onset (AAO) of MDD using survival models after adjusting for Childhood Sexual Abuse (CSA). To achieve this aim, a dataset was made available by the China Oxford and VCU Experimental Research on Genetic Epidemiology (CONVERGE) consortium. The study population had 5,220 controls and 5,282 cases with MDD. We performed two univariate association analyses using Cox Proportional Hazard (Cox PH) models. These two are ...


Associations Of Single Nucleotide Polymorphisms In The Bovine Prolactin, Melatonin Receptor 1a, And Dopamine Receptor D2 Genes With Hair Coat Shedding Scores And Productivity Traits In Beef Cattle, Laura R. Meyer Aug 2016

Associations Of Single Nucleotide Polymorphisms In The Bovine Prolactin, Melatonin Receptor 1a, And Dopamine Receptor D2 Genes With Hair Coat Shedding Scores And Productivity Traits In Beef Cattle, Laura R. Meyer

Theses and Dissertations

Calving rate is a qualitative trait regulated by several genes and is strongly affected by the environment. With the development of biotechnology and gene identification, scientists are able to determine which genes affect these productivity traits to improve accurate selection decisions. Prolactin (PRL) has been associated with reproductive traits, melatonin receptor 1a (MTNR1A) has been associated with meat quality traits, and the dopamine receptor D2 (DRD2) gene has been associated with hair coat score (HCS) in cattle. Our objective was to determine associations between mutations in the PRL, MTNR1A, and DRD2 genes and cow-calf profitability traits. Genomic DNA was extracted ...


Reflections On The Current State Of Healthcare Transition For Young Adult Women With Turner Syndrome: Strategies For Facilitating Autonomy And Self-Management, Molly Elizabeth Snyder Jun 2016

Reflections On The Current State Of Healthcare Transition For Young Adult Women With Turner Syndrome: Strategies For Facilitating Autonomy And Self-Management, Molly Elizabeth Snyder

Theses and Dissertations

The transition to adult-centered healthcare is a critical period for emerging adults, especially those with special healthcare needs (SHCNs). Considering the ongoing medical monitoring necessary for women with Turner syndrome (TS), it is essential that the transition process be comprehensive and well-coordinated. The aims of this study were to invite young women with TS to reflect on their healthcare transition experiences, to explore participants’ perceived control of their medical management, and to identify ways in which genetic counselors can be involved in multidisciplinary healthcare teams. The hypotheses were that young women with TS are motivated to learn more about their ...


Genetic Counseling For Alcohol Use Disorder: Assessment Of Need In Affected And At-Risk Populations, Fayth Michelle Kalb Jun 2016

Genetic Counseling For Alcohol Use Disorder: Assessment Of Need In Affected And At-Risk Populations, Fayth Michelle Kalb

Theses and Dissertations

Introduction: Alcohol use disorder (AUD) is highly heritable, yet there has been no investigation regarding the possible benefits of genetic counseling for AUD. This study assessed the beliefs individuals with and at risk for AUD have regarding recurrence risk and etiology of AUD, how the presence of the condition in themselves or their family history has affected their lifestyle decisions, and potential benefit from AUD genetic counseling. Methods: An online questionnaire was distributed through social media to support groups for AUD inviting adults 18 years and older with a personal or family history of AUD. Results: Of the 122 individuals ...


The Undiagnosed Patient And The Diagnostic Odyssey: Current Genetic Counseling Practices And Perspectives, Amelia Cordell Wardyn Jun 2016

The Undiagnosed Patient And The Diagnostic Odyssey: Current Genetic Counseling Practices And Perspectives, Amelia Cordell Wardyn

Theses and Dissertations

Patients seen in genetics clinics often endure a diagnostic odyssey in their search for answers for their medical symptoms. This time is not only challenging for patients and their families, but also for the genetic counselors who are trying to help the patients. Previous research has shown that parents of children with undiagnosed medical disorders have specific goals and reasons for wanting to find a diagnosis, and there are many difficulties faced by these parents. Genetic counselors often serve as a prominent figure during the diagnostic odyssey, but little known research has assessed the current practices of and impact that ...


Exploring The Genetics Of A Complex Disease - Atypical Hemolytic Uremic Syndrome, Fengxiao Bu May 2016

Exploring The Genetics Of A Complex Disease - Atypical Hemolytic Uremic Syndrome, Fengxiao Bu

Theses and Dissertations

Atypical hemolytic uremic syndrome (aHUS) is a rare renal disorder characterized by thrombotic microangiopathy, thrombocytopenia, and acute kidney injury. Its pathogenesis has been attributed to a ‘triggering' event that leads to dysregulation of the complement cascade at the level of the endothelial cell surface. Consistent with this understanding of the disease, mutations in complement genes have been definitively implicated in aHUS. However, the existence of other genetic contributors is supported by two observations. First, in ~50% of cases, disease-causing variants are not identified in complement genes, and second, disease penetrance is typically incomplete and highly variable.

To test this hypothesis ...


Applying Molecular And Phenotypic Tools To Characterize Flesh Texture And Acidity Traits In The Arkansas Peach Breeding Program And Understanding The Crispy Texture In The Arkansas Blackberry Breeding Program, Alejandra Andrea Salgado Rojas Dec 2015

Applying Molecular And Phenotypic Tools To Characterize Flesh Texture And Acidity Traits In The Arkansas Peach Breeding Program And Understanding The Crispy Texture In The Arkansas Blackberry Breeding Program, Alejandra Andrea Salgado Rojas

Theses and Dissertations

Quantitative trait loci (QTL) utilizing a pedigree-based analysis (PBA) approach was performed in the peach breeding program for the first time. The pedigree consisted of seven-F1 populations, their parents, ancestors, and cultivars. Flesh firmness and titratable acidity (TA) were examined in 2011, 2012, and 2013. For TA, a consistent and strong QTL was identified on the proximal end of linkage group (LG) 5 of the peach genome. For flesh firmness, two QTLs were located on LG 4. The first QTL was located on the chromosomal region where the slow-melting flesh (SMF) DNA test was identified, and the second QTL was ...


The Characterization Of Clinical, Genetic And Molecular Aspects Of Primary Angle Closure Glaucoma In A Canine Genetic Model, Dina Ahram Jul 2014

The Characterization Of Clinical, Genetic And Molecular Aspects Of Primary Angle Closure Glaucoma In A Canine Genetic Model, Dina Ahram

Theses and Dissertations

Primary angle closure glaucoma (PACG) is a chronic optic neuropathy that results in retinal ganglion cell (RGC) degeneration, cupping of the optic nerve head (ONH) and subsequent loss of vision. In humans, PACG occurs as a result of a plateau iris or more commonly, a pupillary block. Increased Intraocular pressure and reduced axial length are some of the predisposing factors to PACG. The condition occurs in several breeds of dogs and the prognosis for affected animals is typically poor. Unlike PACG in humans, the mechanism of PACG in canines involves the gradual collapse of the ciliary cleft with or without ...


Impact Of Faah Genotype And Marijuana Use On Brain Structure And Neuropsychological Performance In Emerging Adults, Skyler Gabriel Shollenbarger May 2014

Impact Of Faah Genotype And Marijuana Use On Brain Structure And Neuropsychological Performance In Emerging Adults, Skyler Gabriel Shollenbarger

Theses and Dissertations

Introduction: Chronic MJ use may be associated with higher cognitive ability impairments (see Lisdahl et al., 2013). Regions undergoing later maturation (Gogtay 2004), may be at increased risk for MJ-induced alterations. Endogenous cannabinoid signaling (ECS) is modulated by the function the enzyme Fatty Acid Amide Hydrolase (see Ho & Hilard, 2005), thus the gene encoding for this enzyme (FAAH) impacts ECS (Sipe et al., 2002). Here, we examine the impact of MJ use and FAAH genotype on PFC complexity and underlying frontal white matter (WM) integrity in young adults. Methods: Participants included 37 MJ users and 37 non-using young adults (ages 18-25). Of those, 27 were FAAH A carriers and 47 were homozygous (C/C) carriers. Exclusion criteria included co-morbid psychiatric and neurologic disorders and excessive other drug use. Brain complexity and WM integrity was measured using local gyrification index and Tracula programs. The Letter Number Sequencing, PASAT and D-Kefs c/w interference measured complex attention and inhibition. Multiple regressions and Pearson r correlations were used to predict LGI, WM integrity and cognitive performance indices from MJ use status, FAAH status, and MJ*FAAH interactions controlling for demographic variables and comorbid drug use. Results: MJ users demonstrated decreased LGI in bilateral vmPFC (RH: [beta=-.54, p<.001] and LH: [beta=-.55, p<.001]); bilateral mPFC (RH: [beta=-.48, p=.001] and LH: [beta=-.51, p<.001]); and bilateral frontal poles (RH: [beta=-.31, p=.02]; LH: [beta=-.43, p=.004]), with increased LGI in LH DLPFC [beta=.40, p=.004]. Controlling for the same variables, reduced WM integrity was found in bilateral UCF (RH: [beta=.32, p=.03] and LH: [beta=.31, p=.03]) and fMinor [beta=.27, p=.05] tracts of MJ users. Significant interactions between MJ*FAAH were seen predicting LGI in LH OFC [beta=-.24, p=.04] and WM integrity in fMinor [beta=.26, p=.04] and LH ATR [beta=.36, p=.003]. In MJ users, increased gyrification was associated with better LNS performance in RH mPFC [r=.51, p=.001], RH vmPFC [r=.41, p=.01], and RH frontal pole [r=.45, p=.005] and a negative correlation with gyrification and color-word completion time in LH vmPFC [r=-.32, p=.05]. In MJ users, decreased WM integrity was associated with greater PASAT performance in the RH UNC [r=.38, p=.02]. Discussion: MJ use was associated with reduced LGI in several PFC regions with one region showing an opposite relationship. These results are consistent with Mata and colleagues (2010). We also found reduced WM integrity in fronto-temporal tracts, which may have important emotion regulation implications. These brain characteristics were also moderated by FAAH genotype. Additional implications of ECS and brain health will be discussed.


Genomic Copy Number Variation In Schizophrenia, Danielle Song Rudd May 2014

Genomic Copy Number Variation In Schizophrenia, Danielle Song Rudd

Theses and Dissertations

Schizophrenia (OMIM 181500) is an incurable and severe psychiatric disorder comprised of three symptom domains (positive symptoms, negative symptoms and cognitive impairments) with a worldwide prevalence of approximately 1%. There is a substantial amount of evidence demonstrating that schizophrenia has a strong a genetic component. Broad-sense heritability estimates range from 64-80% and first-degree relatives of schizophrenia patients have 10-fold increased risk of developing the disorder compared to the general population. It is thought that both single nucleotide polymorphisms and copy number variants (CNVs) contribute to the heritability of schizophrenia. This thesis focuses on the role of CNVs in the etiology ...


Walking The Edge With Controversial Use Of Preimplantation Genetic Diagnosis (Pgd): Opinions And Attitudes Of Genetic Counselors, Kristen Everton Jan 2014

Walking The Edge With Controversial Use Of Preimplantation Genetic Diagnosis (Pgd): Opinions And Attitudes Of Genetic Counselors, Kristen Everton

Theses and Dissertations

Purpose: This study explored opinions and attitudes of genetic counselors regarding three controversial applications of preimplantation genetic diagnosis (PGD): PGD for early-onset Alzheimer, use of embryos that are BRCA positive after PGD revealed no disease-free embryos to be available, and PGD to select against a variant of unknown significance (VUS) for Marfan syndrome. Methods: Genetic counselors were contacted through the National Society of Genetic Counselors (NSGC) electronic mailing list. Inclusion criteria required that a participant was currently practicing as a genetic counselor, was a member of the NSGC, and has counseled patients about PGD. Twenty-nine participants volunteered to participate and ...


Phenotypes And Variants In Cases Submitted For X-Linked Intellectual Disability (Xlid) Gene Panel Testing, Michael J. Friez Jan 2014

Phenotypes And Variants In Cases Submitted For X-Linked Intellectual Disability (Xlid) Gene Panel Testing, Michael J. Friez

Theses and Dissertations

Intellectual disability (ID) refers to reduced cognitive function, apparent before the age of 18, that negatively affects a person's learning and adaptive capacity. Approximately 1-3% of the population is affected with ID, males more than females, and most in the mild-to-moderate range. ID creates financial, logistical and psychosocial challenges for affected persons and their families and caregivers. It is estimated that up to 50% of ID has a genetic cause. Molecular genetic diagnosis may help in obtaining services and has important implications for family members, but can be elusive. Genes causing ID are known to be over-represented on the ...


Examining Cleft Lip And Palate As A Lifelong Disease: Genetic Investigation Of Causes And Outcomes, Beth Noelle Davidson May 2012

Examining Cleft Lip And Palate As A Lifelong Disease: Genetic Investigation Of Causes And Outcomes, Beth Noelle Davidson

Theses and Dissertations

Nonsyndromic cleft lip and/or palate (NS CL/P) is a common birth defect with estimated birth prevalence of 1/1000 worldwide. NS CL/P etiology may be explained by the action of as few as two or as many as 14 different genes (Schliekelman et al. 2002) as well as several environmental factors (e.g. smoking and folic acid) (Shi et al. 2008; Wehby et al. 2010). Convincing genetic and/or biologic evidence exists for the contribution of many genes: IRF6, 8q24, FGFR2, FOXE1, BMP4, TGFβ3, MSX1, MAFB , PAX7, ABCA4, and VAX1, to NS CL/P (Dixon et al ...


Identification Of Genes Contributing To Preterm Birth: Insights From Genetic, Transcriptomic, And Epigenetic Analyses, Jinsil Kim May 2012

Identification Of Genes Contributing To Preterm Birth: Insights From Genetic, Transcriptomic, And Epigenetic Analyses, Jinsil Kim

Theses and Dissertations

Preterm birth (PTB) is a global public health problem that has significant adverse effects on neonatal mortality and morbidity. Progress in understanding the pathological mechanisms underlying PTB has been greatly hampered by the complex and polygenic nature of the disease. As a result, a multifaceted approach may hold promise for identifying true causal factors. The main objective of this thesis is to identify genes that play a role in the etiology of PTB using experimental data derived from different molecular levels (genome, transcriptome, and epigenome). To achieve this goal, we performed association studies using a candidate gene approach to identify ...


Identification Of A Genetic Contribution To Meniere's Disease, Colleen Ann Campbell May 2010

Identification Of A Genetic Contribution To Meniere's Disease, Colleen Ann Campbell

Theses and Dissertations

Ménière's disease (MD) is a complex disorder of the inner ear characterized by the symptoms of hearing loss, tinnitus, and vertigo, with an incidence in Caucasians of one in 1000. The hallmark histopathologic feature of MD is endolymphatic hydrops. Symptoms of MD typically present in the fourth decade of life, and the vertigo attacks experienced by patients with MD can be debilitating. Treatments aimed at alleviating the symptoms of MD are ineffective in approximately 30% of patients. Several studies have attempted to identify genetic factors important in MD through the use of families segregating the disease, but causative genes ...