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The Genetic Influence On Subjective Well-Being: A Review Of The Current Knowledge On The Role Of Genetics On Our Sense Of Subjective Well-Being And The Implications It Has For Future Research In Improving Well-Being At Both A Population And Individual Level., Abhishek Gupta

Honors Scholar Theses

This thesis project explores the genetic underpinnings of one of the most cherished attributes in the world, well-being.¹ Specifically, it attempts to understand the influence of the genome on subjective, or experienced, well-being. An investigation was conducted into current literature concerning both the structure of measurement devices of well-being as well as association studies to determine the scope of the correlation that exists between the genome and well-being and identify genetic findings of interest. Ultimately, being able to provide evidence of causality between the genome and sense of well-being at this iteration of well-being and genome research is limited, …

Causes Of Color Blindness: Function And Failure Of The Genes That Detect Color, Dylan Taylor

Senior Honors Theses

Color blindness affects nearly 10% of the entire population, with multiple types of color blindness from various genetic mutations. In the following sections, the nature of light and how the human eye perceives light will be discussed. Afterward, the major forms of color blindness and their genetic causes will be considered. Once these genetic causes have been established, the current method for diagnosing color blindness will be investigated, followed by a discussion of the current treatments available to those with color blindness. Finally, a brief discussion will address possible future work for color blindness with the hope of finding better …

Genetic Cause Of Heterogeneous Inherited Myopathies In A Cohort Of Greek Patients, Ioannis Zaganas, Vasilios Mastorodemos, Martha Spilioti, Lambros Mathioudakis, Helen Latsoudis, Kleita Michaelidou, Dimitra Kotzamani, Konstantinos Notas, Konstantinos Dimitrakopoulos, Irene Skoula, Stefanos Ioannidis, Eirini Klothaki, Sophia Erimaki, Georgios Stavropoulos, Vassilios Vassilikos, Georgios Amoiridis, Georgios Efthimiadis, Athanasios Evangeliou, Panayiotis Mitsias

Neurology Articles

Inherited muscle disorders are caused by pathogenic changes in numerous genes. Herein, we aimed to investigate the etiology of muscle disease in 24 consecutive Greek patients with myopathy suspected to be genetic in origin, based on clinical presentation and laboratory and electrophysiological findings and absence of known acquired causes of myopathy. Of these, 16 patients (8 females, median 24 years-old, range 7 to 67 years-old) were diagnosed by Whole Exome Sequencing as suffering from a specific type of inherited muscle disorder. Specifically, we have identified causative variants in 6 limb-girdle muscular dystrophy genes (6 patients; ANO5, CAPN3, DYSF, ISPD, LAMA2, …

Introduction To Neutrosophic Genetics, Florentin Smarandache

Branch Mathematics and Statistics Faculty and Staff Publications

Neutrosophic Genetics is the study of genetics using neutrosophic logic, set, probability, statistics, measure and other neutrosophic tools and procedures. In this paper, based on the Neutrosophic Theory of Evolution (that includes degrees of Evolution, Neutrality (or Indeterminacy), and Involution) – as extension of Darwin’s Theory of Evolution, we show the applicability of neutrosophy in genetics, and we present within the frame of neutrosophic genetics the following concepts: neutrosophic mutation, neutrosophic speciation, and neutrosophic coevolution.

Connections In The Underworld: A Morphological And Molecular Study Of Diversity And Connectivity Among Anchialine Shrimp., Robert Eugene Ditter

FIU Electronic Theses and Dissertations

This research investigates the distribution and population structure of crustaceans, endemic to anchialine systems in the tropical western Atlantic focusing on cave-dwelling shrimp from the family Barbouriidae. Taxonomic and molecular tools (genetic and genomic) are utilized to examine population dynamics and the presence of phenotypic hypervariation (PhyV) of the critically endangered species Barbouria cubensis (von Martens, 1872). The presence of PhyV and its geographic distribution is investigated among anchialine populations of B. cubensis from 34 sites on Abaco, Eleuthera, and San Salvador, Bahamas. Examination of 54 informative morphological characters revealed PhyV present in nearly 90% (n=463) of specimens with no …

Can A Lifestyle Genomics Intervention Motivate Patients To Engage In Greater Physical Activity Than A Population-Based Intervention? Results From The Now Randomized Controlled Trial, Justine R. Horne, Jason Gilliland, Tara Leckie, Colleen O'Connor, Jamie A. Seabrook, Janet Madill

Paediatrics Publications

Background: Lifestyle genomics (LGx) is a science that explores interactions between genetic variation, lifestyle components such as physical activity (PA), and subsequent health- and performance-related outcomes. The objective of this study was to determine whether an LGx intervention could motivate enhanced engagement in PA to a greater extent than a population-based intervention. Methods: In this pragmatic randomized controlled trial, participants received either the standard, population-based Group Lifestyle BalanceTM (GLB) program intervention or the GLB program in addition to the provision of LGx information and advice (GLB + LGx). Participants (n = 140) completed a 7-day PA recall at baseline, 3, …

Can A Lifestyle Genomics Intervention Motivate Patients To Engage In Greater Physical Activity Than A Population-Based Intervention? Results From The Now Randomized Controlled Trial, Justine R. Horne, Jason Gilliland, Tara Leckie, Colleen O'Connor, Jamie A. Seabrook, Janet Madill

Paediatrics Publications

Background: Lifestyle genomics (LGx) is a science that explores interactions between genetic variation, lifestyle components such as physical activity (PA), and subsequent health- and performance-related outcomes. The objective of this study was to determine whether an LGx intervention could motivate enhanced engagement in PA to a greater extent than a population-based intervention. Methods: In this pragmatic randomized controlled trial, participants received either the standard, population-based Group Lifestyle BalanceTM (GLB) program intervention or the GLB program in addition to the provision of LGx information and advice (GLB + LGx). Participants (n = 140) completed a 7-day PA recall at baseline, 3, …

Back From The Brink?: Rebounding And Remnant Amphibian Populations In A Pathogen Enzootic Environment, Alexander D. Shepack

FIU Electronic Theses and Dissertations

The Anthropocene epoch has been marred by a global biodiversity crisis and the advent of Earth’s sixth mass extinction. Amphibians, the most threatened vertebrate taxa, have become the poster children for this sixth mass extinction. The pathogenic fungus Batrachochytrium dendrobatidis has been blamed for many of declines and extinctions seen in amphibians. The now panglobal Bd causes the disease chytridiomycosis in a large number of amphibian species and has been linked to population crashes in Central and South America, Australia, Europe, and the United States. Now enzootic around the world, amphibian populations continue to confront Bd in a long-term battle …

Identifying Genetic Factors That Contribute To The Increased Risk Of Congenital Heart Defects In Infants With Down Syndrome, Cristina E. Trevino, Aaron M. Holleman, Holly Corbitt, Cheryl L. Maslen, Tracie C. Rosser, David J. Cutler, H. Richard Johnston, Benjamin L. Rambo-Martin, Jai Oberoi, Kenneth J. Dooley, George T. Capone, Roger H. Reeves, Heather J. Cordell, Bernard D. Keavney, A. J. Agopian, Elizabeth Goldmuntz, Peter J. Gruber, James O'Brien, Douglas Bittel, Lalita Wadhwa, Clifford L. Cua, Ivan P. Moskowitz, Jennifer G. Mulle, Michael P. Epstein, Stephanie L. Sherman, Michael E. Zwick

Faculty Publications

Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at a > 2000-fold increased prevalence compared to the general population. This study aimed to identify risk-associated genes and pathways and to examine a potential polygenic contribution to AVSD in DS. We analyzed a total cohort of 702 individuals with DS with or without AVSD, with genomic data from whole exome sequencing, whole genome sequencing, and/or array-based imputation. We utilized sequence kernel association testing and polygenic risk score (PRS) methods to examine rare and common variants. Our findings suggest that the Notch pathway, particularly …

Genetics Fall 2020 Infographics, Robyn Puffenbarger

Genetics Fall 2020

No abstract provided.

Knowledge And Practice Regarding Prostate Cancer Germline Testing Among Urologists: Gaps To Address For Optimal Implementation, Stacy Loeb, Nataliya Byrne, Dawn Walter, Danil V Makarov, David R Wise, Daniel Becker, Veda N Giri

Department of Medical Oncology Faculty Papers

BACKGROUND: Germline testing is recommended for all men with metastatic prostate cancer (PCa), and for some with localized PCa meeting specific histologic or family history criteria. Germline genetic evaluation has important implications for PCa prognosis and management, as well as implications for family members and cancer screening. Despite the importance of germline evaluation, its utilization in urologic practice is unknown.

MATERIALS AND METHODS: We conducted a 32-item survey of U.S. urologists to examine knowledge of germline testing guidelines and practice patterns. It was shared through email to 6 American Urological Association sections, the Veterans Affairs Urology Mailgroup, and social media. …

Risk Prediction Of Late-Onset Alzheimer’S Disease Implies An Oligogenic Architecture, Qian Zhang, Julia Sidorenko, Baptiste Couvy-Duchesne, Riccardo E. Marioni, Margaret J. Wright, Alison M. Goate, Edoardo Marcora, Kuan-Lin Huang, Tenielle Porter, Simon M. Laws, Perminder S. Sachdev, Karen A. Mather, Nicola J. Armstrong, Anbupalam Thalamuthu, Henry Brodaty, Loic Yengo, Jian Yeng, Naomi R. Wray Robertson, Allan F. Mcrae, Peter M. Visscher, Steven Collins, Christine Thai, Brett Trounson, Kate Lennon, Qiao Xin Li, Fernanda Yevenes Ugarte, Irene Volitakis, Michael Vovos, Australian Imaging Biomarkers And Lifestyle

Research outputs 2014 to 2021

© 2020, The Author(s). Genetic association studies have identified 44 common genome-wide significant risk loci for late-onset Alzheimer’s disease (LOAD). However, LOAD genetic architecture and prediction are unclear. Here we estimate the optimal P-threshold (Poptimal) of a genetic risk score (GRS) for prediction of LOAD in three independent datasets comprising 676 cases and 35,675 family history proxy cases. We show that the discriminative ability of GRS in LOAD prediction is maximised when selecting a small number of SNPs. Both simulation results and direct estimation indicate that the number of causal common SNPs for LOAD may be less than 100, suggesting …

Integrate Structural Analysis, Isoform Diversity, And Interferon-Inductive Propensity Of Ace2 To Predict Sars-Cov2 Susceptibility In Vertebrates, Eric R. Sang, Yun Tian, Yuanying Gong, Laura C. Miller, Yongming Sang

Agricultural and Environmental Sciences Faculty Research

The current new coronavirus disease (COVID-19) has caused globally over 0.4/6 million confirmed deaths/infected cases across more than 200 countries. As the etiological coronavirus (a.k.a. SARS-CoV2) may putatively have a bat origin, our understanding about its intermediate reservoir between bats and humans, especially its tropism in wild and domestic animals are mostly unknown. This constitutes major concerns in public health for the current pandemics and potential zoonosis. Previous reports using structural analysis of the viral spike protein (S) binding its cell receptor of angiotensin-converting enzyme 2 (ACE2), indicate a broad potential of SARS-CoV2 susceptibility in wild and particularly domestic animals. …

The P-Glycoprotein Repertoire Of The Equine Parasitic Nematode Parascaris Univalens, Alexander P. Gerhard, Jürgen Krücken, Emanuel Heitlinger, I. Jana I. Janssen, Marta Basiaga, Sławomir Kornaś, Céline Beier, Martin K. Nielsen, Richard E. Davis, Jianbin Wang, Georg Von Samson-Himmelstjerna

Maxwell H. Gluck Equine Research Center Faculty Publications

P-glycoproteins (Pgp) have been proposed as contributors to the widespread macrocyclic lactone (ML) resistance in several nematode species including a major pathogen of foals, Parascaris univalens. Using new and available RNA-seq data, ten different genomic loci encoding Pgps were identified and characterized by transcriptome-guided RT-PCRs and Sanger sequencing. Phylogenetic analysis revealed an ascarid-specific Pgp lineage, Pgp-18, as well as two paralogues of Pgp-11 and Pgp-16. Comparative gene expression analyses in P. univalens and Caenorhabditis elegans show that the intestine is the major site of expression but individual gene expression patterns were not conserved between the two nematodes. In P. …

Science Fiction And The Law: A New Wigmorian Bibliography, Jorge L. Contreras

Utah Law Faculty Scholarship

In 1908, Dean John Henry Wigmore compiled a list of novels that no lawyer could “afford to ignore”. Wigmore’s list, taken up by Professor Richard Weisberg in the 1970s, catalogs one hundred novels, stories and dramatic works from Antigone to The Merchant of Venice to Native Son, each of which portrays or offers insight into the legal system or the practice of law. Weisberg’s updated list also includes a compilation of critical studies in the then-emerging law and literature movement. This article undertakes a similar bibliographic exercise with respect to law and the literature of science fiction. While science fiction, …

The Association Of Comt Genotype With Buproprion Treatment Response In The Treatment Of Major Depressive Disorder., Jay Fawver Md, Mindy Flanagan, Thomas Smith, Michelle Drouin, Michael Mirro Md

Health Services and Informatics Research

BACKGROUND: Pharmacodynamics and pharmacogenetics are being explored in pharmacological treatment response for major depressive disorder (MDD). Interactions between genotype and treatment response may be dose dependent. In this study, we examined whether MDD patients with Met/Met, Met/Val, and Val/Val COMT genotypes differed in their response to bupropion in terms of depression scores.

METHODS: This study utilized a convenience sample of 241 adult outpatients (≥18 years) who met DSM-5 criteria for MDD and had visits at a Midwest psychopharmacology clinic between February 2016 and January 2017. Exclusion criteria included various comorbid medical, neurological, and psychiatric conditions and current use of benzodiazepines …

Genome Diversity And The Origin Of The Arabian Horse, Elissa J. Cosgrove, Raheleh Sadeghi, Florencia Schlamp, Heather M. Holl, Mohammad Moradi-Shahrbabak, Seyed Reza Miraei-Ashtiani, Salma Abdalla, Ben Shykind, Mats H. T. Troedsson, Monika Stefaniuk-Szmukier, Anil Prabhu, Stefania Bucca, Monika Bugno-Poniewierska, Barbara Wallner, Joel Malek, Donald C. Miller, Andrew G. Clark, Douglas F. Antczak, Samantha A. Brooks

Veterinary Science Faculty Publications

The Arabian horse, one of the world's oldest breeds of any domesticated animal, is characterized by natural beauty, graceful movement, athletic endurance, and, as a result of its development in the arid Middle East, the ability to thrive in a hot, dry environment. Here we studied 378 Arabian horses from 12 countries using equine single nucleotide polymorphism (SNP) arrays and whole-genome re-sequencing to examine hypotheses about genomic diversity, population structure, and the relationship of the Arabian to other horse breeds. We identified a high degree of genetic variation and complex ancestry in Arabian horses from the Middle East region. Also, …

Prevalence And Clinical Features Of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified By Whole-Exome Sequencing In 1000 Children At A Single Center, Eileen Crowley, Neil Warner, Jie Pan, Sam Khalouei, Abdul Elkadri, Karoline Fiedler, Justin Foong, Andrei L Turinsky, Dana Bronte-Tinkew, Shiqi Zhang

Paediatrics Publications

BACKGROUND & AIMS: A proportion of infants and young children with inflammatory bowel diseases (IBDs) have subtypes associated with a single gene variant (monogenic IBD). We aimed to determine the prevalence of monogenic disease in a cohort of pediatric patients with IBD.

METHODS: We performed whole-exome sequencing analyses of blood samples from an unselected cohort of 1005 children with IBD, aged 0-18 years (median age at diagnosis, 11.96 years) at a single center in Canada and their family members (2305 samples total). Variants believed to cause IBD were validated using Sanger sequencing. Biopsies from patients were analyzed by immunofluorescence and …

Executive Summary Of The Early-Onset Breast Cancer Evidence Review Conference., David Chelmow, Mark D Pearlman, Amy Young, Laura Bozzuto, Sandra Dayaratna, Myrlene Jeudy, Mallory E Kremer, Dana Marie Scott, Julia Sage OʼHara

Department of Obstetrics and Gynecology Faculty Papers

The Centers for Disease Control and Prevention launched the Bring Your Brave campaign to increase knowledge about early-onset breast cancer, defined as breast cancer in women aged 18-45 years. The American College of Obstetricians and Gynecologists convened a panel of experts in breast disease from the Society for Academic Specialists in General Obstetrics and Gynecology to review relevant literature, validated tools, best practices, and practice guidelines as a first step toward developing educational materials for women's health care providers about early-onset breast cancer. Panel members conducted structured literature reviews, which were then reviewed by other panel members and discussed at …

Sensors And Wearables In Oncology: A Study Of The Barriers And Facilitators To Adoption, Sam Hanna

Doctor of Philosophy in Translational Health Sciences Dissertations

Innovation, although a subject of considerable debate (e.g., Baregheh et al., 2009; Christensen, 1997), can be defined as the introduction and dissemination of a new or a different idea into use or practice that drives impact (Solis and Sinfield, 2014). Many studies and editorials have highlighted the complexity of the United States health system and detailed the slow speed by which innovative ideas materialize into impactful innovations (Continuing America’s leadership (2017); England & Stewart (2007); Kannampallil, Schauer, Cohen & Patel (2011)). While there are many advances in sensor and wearable technologies in this instance, the adoption rate by oncologists has …

Pathogenic Aortopathy Genes Are Associated With Faster Thoracic Aneurysm Growth: Long Term Experience From The Aurora St. Luke's Aortopathy Clinic, Viviana Zlochiver, Xiaoxiao Qian, Ana C. Perez Moreno, Michelle Bush, Heather K. Sanders, Muhammad Fuad Jan, A J. Tajik

Aurora Internal Medicine Residents

No abstract provided.

The Normative Molecule: Patent Rights And Dna, Saurabh Vishnubhakat

Faculty Scholarship

Throughout the biotechnology age, fears about the distortionary effects of property and other legal institutions upon the health and self-determination of individuals and societies have accompanied more popularly sensational fears about unscrupulous choices within the scientific community itself. Still, for most of that time the prevailing legal regime both in the United States and in Europe remained generally permissive of ownership of, and exclusionary power over, the fruits of much biomedical research, though this leniency took different forms and came about in different ways. In particular, the policy of the United States Patent and Trademark Office to grant patents on …

Genetic Analysis Of Flower Color Differences Between A Hummingbird-Pollinated And A Self-Pollinated Monkeyflower (Mimulus) Species, Caitlin Foster

University Scholar Projects

Flower color plays an important role in pollinator discrimination and speciation. Understanding the genetic contributions to flower color differences between two closely related species, Mimulus cardinalis and Mimulus parishii, can improve understanding of how they developed different pollination syndromes and diverged from a recent common ancestor. M. cardinalis is hummingbird-pollinated and has large, bright red flowers while M. parishii is self-pollinated and has small, pale pink flowers. An F2 hybrid population between these two species was created to establish a platform for analysis of the genetic architecture controlling the differences in anthocyanin pigmentation. Statistical analysis of anthocyanin concentration distribution …

Genetic Intelligence: Myth Busted, Carissa Brand

Academic Symposium of Undergraduate Scholarship

No abstract provided.

Evolutionary And Ecological Determinism Of Host Specificity In Arthropod Parasites, Joseph Levey

UCARE Research Products

Understanding why some diseases infect more species than others is crucial for predicting where and when disease will spread, which can inform the management of wildlife, agriculture, and human health. Currently, large scale patterns of host-parasite dynamics are being studied to understand where to look for and how to manage emerging human diseases (Leroy 2005; Benelli 2018). Previous research has used the Global Mammal Parasite Database (GMPD) to look at host breadth—the number and diversity of species a pathogen can infect—for various groups of parasites, e.g. helminths, arthropods, fungi, etc., from a host-centric perspective (Stephens et al. 2017; Park et …

Genetic Studies Of Wildlife, Brittaney L. Buchanan

School of Natural Resources: Dissertations, Theses, and Student Research

Genetic techniques are being more frequently used to understand the biology and management of wildlife species. The wild turkey is one species of genetic interest because the correct identification of individuals to the subspecies level is difficult using traditional methods. Currently phenotypic differences in plumage, especially the upper tail coverts, are used to assign individuals to subspecies. To hunters wanting to complete a “grand slam,” identification of birds’ subspecies is important. This study focuses on the five extant subspecies: Eastern (M. g. silvestris), Osceola (M. g. osceola), Rio Grande (M. g. intermedia), Merriam’s ( …

Genetic Relationships And Therapeutic Options For Relapsed Acute Lymphoblastic Leukemia, Hailie Shertzer

Senior Honors Theses

Acute lymphoblastic leukemia (ALL) is the most common form of cancer among children and can be lethal to the adult population. Though 80% of patients with ALL reach complete remission after treatment, about 20% of those diagnosed fail to remain cancer-free. Genetic rearrangements are the hallmark of relapsed ALL, but the mechanism by which these rearrangements occur is still unclear. Recent research suggests these mutations may be detectable during initial diagnosis. If researchers are able to accurately assess the probability of relapse during diagnosis by analyzing the genome of the leukemic cells, the likelihood of administering effective therapy would increase. …

Effects Of Stream Permanence On The Stoneflies (Plecoptera) Of The Mammoth Cave Region, Taylor Mcroberts

Masters Theses & Specialist Projects

Stoneflies (Plecoptera) are often associated with cold perennial streams, but many species also inhabit intermittent streams that experience reduced or lack of flow during summer and autumn. In this study the influence of stream permanence on stonefly assemblage composition and spatial distribution in the Mammoth Cave region, Kentucky, USA, was addressed based on a 14 month sampling regime from the fullest range of stream sizes and habitable flow regions available. Adult stoneflies were collected monthly at Mammoth Cave National Park and the Western Kentucky University Green River Preserve. Collections were done from December 2018–October 2019 using a standard timed protocol …

Adora2a C Allele Carriers Exhibit Ergogenic Responses To Caffeine Supplementation, Jozo Grgic, Craig Pickering, David J. Bishop, Juan Del Coso, Brad J. Schoenfeld, Grant M. Tinsley, Zeljko Pedisic

Publications and Research

Caffeine's ergogenic effects on exercise performance are generally explained by its ability to bind to adenosine receptors. ADORA2A is the gene that encodes A2A subtypes of adenosine receptors. It has been suggested that ADORA2A gene polymorphisms may be responsible for the inter-individual variations in the effects of caffeine on exercise performance. In the only study that explored the influence of variation in ADORA2A—in this case, a common polymorphism (rs5751876)—on the ergogenic effects of caffeine on exercise performance, C allele carriers were identified as “non-responders” to caffeine. To explore if C allele carriers are true “non-responders” to the ergogenic effects of …

Genome-Wide Dna Methylation Meta-Analysis In The Brains Of Suicide Completers, Stefanie Policicchio, Sam Washer, Joana Viana, Artemis Latrou, Joe Burrage, Eilis Hannon, Gustavo Turecki, Zachary Kaminsky, Jonathan Mill, Emma L. Dempster, Therese Murphy

Articles

Suicide is the second leading cause of death globally among young people representing a significant global health burden. Although the molecular correlates of suicide remains poorly understood, it has been hypothesised that epigenomic processes may play a role. The objective of this study was to identify suicide-associated DNA methylation changes in the human brain by utilising previously published and unpublished methylomic datasets. We analysed prefrontal cortex (PFC, n = 211) and cerebellum (CER, n = 114) DNA methylation profiles from suicide completers and non-psychiatric, sudden-death controls, meta-analysing data from independent cohorts for each brain region separately. We report evidence for …