Digital Commons Network^™

Transgressing Boundaries Of Identity, Geography And Time In Transmutadxos And La Mucama De Omicunlé, Lucinda Smith

Tête à Tête: Journal of Francophone Studies

The literary works of Rita Indiana (1977) and Yolanda Arroyo Pizarro (1970) are recognised for exposing and challenging hegemonic ideas of identity, sexuality and power. The transgression of boundaries appears time and again in the fiction of both writers, whether these be boundaries of sexual or gender identity, desire, geography, time or even life and death. Using Rita Indiana’s novel La mucama de Omicunlé (2015) and Arroyo’s collection of short stories Transmutadxs (2016), the authors’ representations of such transgressions are the focus of this essay.

Further to addressing similar themes in their texts, both Rita Indiana and Arroyo Pizarro were …

Bodies And Expressions: Exploring The Aesthetics Of Disability Performance Art, Jaya Sarkar

Tête à Tête: Journal of Francophone Studies

No abstract provided.

“Bovarique” Bodies From 19th Century France To 20st Century London, Andisheh Ghaderi, Anoosheh Ghaderi

Tête à Tête: Journal of Francophone Studies

Women’s bodies have always been charged by social associations that aim to control, shape, and discipline women. The frustrations and the ennui caused by sociocultural and political constraints push women to a state of existential crisis and eventually a erasure through biological death. Such vicious cycles had been depicted in the literary works to which Gustave Flaubert’s Madame Bovary (1856) serves as a prominent example. Flaubert’s protagonist, Emma Bovary represents the pathway of a young, provincial, woman to a tragic adulthood filled with banality, emptiness, and despair. Objects, ranging from journals to clothes, are omnipresent in Emma’s life and shape …

Writing Desire On The Lesbian Body: Baudelaire’S Fantasies And Vivien’S Realities, Emily Wieder

Tête à Tête: Journal of Francophone Studies

In The Flowers of Evil [Les Fleurs du Mal (1857)], French poet Charles Baudelaire paints three female bodies: the mistress, the prostitute, and the lesbian. The latter appears in three of one-hundred poems but so captivated Baudelaire that he almost titled the collection The Lesbians. Censors nevertheless condemned the anthology and suppressed two of the lesbian poems. The remaining lesbian poem compares the “damned women” to “thoughtful cattle.” A rare representation of lesbian bodies, this metaphor problematically depicts them as savage.

Yet this “Other” exemplifies the baudelairean poetic ideal. By crafting Beauty, the Poet immortalizes his corpus. As the …

Developmental Functioning Of Infants And Toddlers With Neurodevelopmental Disorders, Megan Callahan

LSU Master's Theses

Autism spectrum disorder (ASD), epilepsy, and cerebral palsy (CP) are some of the most common neurodevelopmental disorders among children with prevalence rates of 1.85% (Maenner et al., 2020), 1.2% (Zack & Kobau, 2017), and between 0.21 and 0.31% (Christensen et al., 2013), respectively. These neurodevelopmental disorders are highly comorbid with each other and with other disorders, such as intellectual disability (ID). While previous research has investigated developmental functioning in these neurodevelopmental disorders, it has primarily focused on only two at a time and in older children or adults. The current study aimed to investigate developmental functioning in these neurodevelopmental disorders …

Not So Different As Cats And Dogs: Companionship During The Covid-19 Pandemic, Shelly Volsche, Elizabeth Johnson

People and Animals: The International Journal of Research and Practice

COVID- 19 lockdown provided a unique, in situ opportunity to probe caretaker experiences of living with companion animals during a stressful event. We launched an online survey in the United States that included standard demographic questions, questions related to household structures, and 25 Likert scale questions that probed perceptions of whether and how respondents’ relationships changed during social isolation. This paper uses a subset of that data specific to dog and cat guardians. A principal components analysis and Mann-Whitney U test returned no significant differences between cat and dog guardians on three scales (Scale 1: Psychological Well-being, Scale 2: …

The Role Of Terrestrial Productivity And Hydrology In Regulating Aquatic Dissolved Organic Carbon Concentrations In Boreal Catchments, Xudan Zhu, Liang Chen, Jukka Pumpanen, Anne Okjala, John Zobitz, Xuan Zhou, Hjalmar Lauren, Marjo Palviainen, Kimmo Neitola, Frank Berninger

Faculty Authored Articles

The past decades have witnessed an increase in dissolved organic carbon (DOC) concentrations in the catchments of the Northern Hemisphere. Increasing terrestrial productivity and changing hydrology may be reasons for the increases in DOC concentration. The aim of this study is to investigate the impacts of increased terrestrial productivity and changed hydrology following climate change on DOC concentrations. We tested and quantified the effects of gross primary production (GPP), ecosystem respiration (RE) and discharge on DOC concentrations in boreal catchments over 3 years. As catchment characteristics can regulate the extent of rising DOC concentrations caused by the regional or global …

Features Of Improving The Special Strength Training Of Highly Qualified Handball Players In Sports Training, Olga Viktorovna Goncharova, Alisher Odilovich Abdalimov

Eurasian Journal of Sport Science

Purpose: The paper presents the program of special strength training of highly qualified handball players developed by us. The experimental data obtained in the work confirm the effectiveness of its use in the educational and training process.

Methods: analysis of educational and methodological literature, pedagogical testing, pedagogical observation, pedagogical experiment, methods of mathematical statistics.

Results: The program of special strength training of highly qualified handball players developed by us, after being introduced into the training process, has shown its effectiveness mainly in the development of speed and strength qualities of athletes, as well as explosive strength and reactive ability of …

Relationship Of Dag1 And Serpina5 Sperm Proteins With Bull Fertility, Saulo Menegatti Zoca, Julie Walker, Jerica J. J. Rich, Kaitlin M. Epperson, Taylor N. Andrews, Adalaide C. Kline, Jessica Nora Drum, M. Sofia Ortega, George Perry

SDSU Beef Day 2022 Summary Publication

Study Description:

Semen from 22 dairy bulls was used to evaluate the presence, localization, and quantification of DAG1 and SERPINA5 on sperm. Sperm motility parameters and viability was also evaluated for semen from each bull. Semen from 19 out of the 22 dairy bulls was used for in vitro embryo production (two Low-SCR and one High-SCR were not available for in vitro embryo production). Bulls were classified based on their sire conception rates (SCR) values as High-SCR (SCR > 1.0) or Low-SCR fertility (SCR < -4.0). Low fertility bulls were subdivided based on their blastocyst rate (BL) as High-BL (Low-SCR/High-BL BL ≥ 31%) or Low-BL (Low-SCR/Low-BL BL ≤ 26%), and High-SCR bulls were not subdivided. The GLM procedure in SAS was used with bull as a fixed effect to determine if variance was greater between bulls compared to within bull. Correlations were determined among DAG1 and SERPINA5 concentrations, percentage of tail labeled for SERPINA5, SCR, sperm total motility, progressive motility, and viability, and in vitro embryo produced cleavage rate (CL) and BL. The GLIMMIX procedure of SAS was used to evaluate the relationship of bull field fertility (High- and Low-SCR), and field and in vitro fertility (High-SCR, Low-SCR/High-BL, Low-SCR/Low-BL) classifications with sperm total (TMOT) and progressive (PROG) motility, viability, CL, BL, DAG1 and SERPINA5 relative concentration, and proportion of sperm tail labeled for SERPINA5. Both SERPINA5 and DAG1 were localized on the sperm head; however, SERPINA5 was also localized on the sperm tail. There was greater variance in concentration among bulls compared to within bull for both DAG1 (P < 0.01; 69.4 vs 49.1, respectively) and SERPINA5 (P < 0.01; 325.8 vs 285.4, respectively). There was a positive correlation between concentration of DAG1 and SERPINA5 (P = 0.01; r = 0.54). Concentrations of SERPINA5 were also correlated with CL (P = 0.04; r = 0.48), and percentage of sperm tail labeled for SERPINA5 was correlated with viability (P = 0.05; r = 0.44) and tended to be correlated with CL (P = 0.10; r = 0.39). There was no relationship between SCR or BL rate classifications and DAG1 (P ≥ 0.66), SERPINA5 (P ≥ 0.54), or percentage of sperm tail labeled for SERPINA5 (P ≥ 0.48).

Common Genetic Variants Contribute To Risk Of Transposition Of The Great Arteries., Doris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik Van Weerd, Odilia I Woudstra, Fleur V Y Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J Cordell, A J Agopian, Gillian M Blue, Daniela Q C M Barge-Schaapveld, Marc Gewillig, Christoph Preuss, Elisabeth M Lodder, Phil Barnett, Aho Ilgun, Leander Beekman, Karel Van Duijvenboden, Regina Bokenkamp, Martina Müller-Nurasyid, Hubert W Vliegen, Thelma C Konings, Joost P Van Melle, Arie P J Van Dijk, Roland R J Van Kimmenade, Jolien W Roos-Hesselink, Gertjan T Sieswerda, Folkert Meijboom, Hashim Abdul-Khaliq, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Julia Moosmann, Frank-Thomas Riede, Stephan Schubert, Pilar Galan, Mark Lathrop, Hans M Munter, Ammar Al-Chalabi, Christopher E Shaw, Pamela J Shaw, Karen E Morrison, Jan H Veldink, Leonard H Van Den Berg, Sylvia Evans, Marcelo A Nobrega, Ivy Aneas, Milena Radivojkov-Blagojević, Thomas Meitinger, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F Smythe, Luis Altamirano-Diaz, Jane Lougheed, Berto J Bouma, Marie-A Chaix, Jennie Kline, Anne S Bassett, Gregor Andelfinger, Roel L F Van Der Palen, Patrice Bouvagnet, Sally-Ann B Clur, Jeroen Breckpot, Wilhelmina S Kerstjens-Frederikse, David S Winlaw, Ulrike M M Bauer, Seema Mital, Elizabeth Goldmuntz, Bernard Keavney, Damien Bonnet, Barbara J Mulder, Michael W T Tanck, Jeroen Bakkers, Vincent M Christoffels, Cornelis J Boogerd, Alex V Postma, Connie R Bezzina

Faculty Research 2022

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA.

METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients …

Editorial: Fibrosis And Inflammation In Tissue Pathophysiology., Isotta Chimenti, Susanne Sattler, Gonzalo Del Monte-Nieto, Elvira Forte

Faculty Research 2022

No abstract provided.

Seagrassnet Monitoring In The Great Bay Estuary, Nh/Mefield Season 2020, Kalle Matso, Trevor Mattera, David Burdick, Lara Martin, Amanda Giacchetti, Tom Gregory

PREP Reports & Publications

No abstract provided.

From Consent To Empowerment In Support Of Decision-Making In Embryonic Genetic Design, Pamela Laufer-Ukeles

Chicago-Kent Law Review

No abstract provided.

Understanding The Regulation Of Innate Immune Mechanisms And Its Relevance In Diseases Using Drosophila Melanogaster, Pooja Kadaba Ranganath

Theses and Dissertations

Drosophila melanogaster is an excellent model organism to study conserved innate immune mechanisms. D. melanogaster utilizes both humoral and cellular immune responses to combat fungal, bacterial and parasitic pathogens; The cellular immune response targets parasites and parasitoid wasps are a major parasite of D. melanogaster. Fly larvae are commonly infected by parasitoid wasps and in response, mount a robust cellular immune response against the parasitoid egg. Numerous signaling pathways like JNK and JAK-STAT have been shown to play a role in the immune response against parasitoid wasps and have a conserved role in human immunity. However, the regulation of the …

Territory Holders Are More Aggressive Towards Older, More Dangerous Floaters, Walter H. Piper, Katherine R. Lee, Brian Hoover

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Animals that show aggression often risk injury and incur steep energetic costs. Thus, aggression should occur at such times and towards such opponents as to maximize fitness. We tested hypotheses predicting adaptive territorial aggression in the common loon, a species in which ease of observation of territory owners and floaters (prebreeders) seeking to evict them provide a rare window onto owner-floater competition. As predicted, older, more competitive floaters (4-year-olds and upwards) tended to intrude into territories that had produced chicks the previous year (and, hence, were of high quality). Older floaters also showed predicted increases in aggression and territorial yodeling, …

Preliminary Evidence That Lectins In Infant Soy Formula Apparently Bind Bovine Milk Exosomes And Prevent Their Absorption In Healthy Adults, Ezra Mutai, Alice Kah Hui Ngu, Janos Zempleni

Department of Nutrition and Health Sciences: Faculty Publications

Background: Milk exosomes and their microRNA (miR) cargos are bioavailable. The content of exosomes and miRs is negligible in infant formulas compared to human milk, and dietary depletion of exosomes led to changes in bacterial communities and impaired gut health in juvenile mice. Adverse effects of formula feeding may be compounded by using soy formulas due to exosome binding by abundant lectins in that matrix. The purpose of this study was to assess the bioavailability of milk exosomes and their miR cargos added to soy formula in adults, as well as the potential role of soy lectins in exosome …

Does A Custodial Rights Understanding Of The Gdpr Justify Fraudulent Misrepresentation By Sperm Donors?, Dov Greenbaum

Chicago-Kent Law Review

No abstract provided.

Effects Of Religiosity And Travel Desire On Covid-19 Vaccination Intentions, Muhammet Kesgin, Ali Selcuk Can, Dogan Gursoy, Yuksel Ekinci, Khaled Aldawodi

Articles

Despite the deadly consequences of the COVID-19 pandemic, vaccine hesitation remains a threat to public health and international travel. This study tests the effect of Muslim religiosity on belief-based attitudes (i.e., subjective norms, perceived behavioural control) and travel desire as a proxy for COVID-19 vaccination intentions. The structural model was tested using PLS-SEM with the data collected via a self-administrated survey between April and June 2021 in Saudi Arabia (N=759). Results reveal that travel desire along with belief-based attitudes influence COVID-19 vaccination intentions. Intrinsic religiosity influences individuals’ subjective norms, directly and perceived behavioural control and COVID-19 vaccination intentions indirectly through …

Long-Term Water Balance Evaluation In Glass Ionomer Restorative Materials, Howard Roberts, David Berzins, John Nicholson

Oral Health Practice Faculty Publications

The complex role of water in glass ionomer cement (polyalkenoate) dental restorative materials has been studied, but much of the present understanding concerning water balance within these materials is based on very early studies and short-term experiments. This study evaluated the nature of the water species of six conventional and four resin modified glass ionomer restorative materials over 3 years using thermogravimetric analysis techniques. Materials were prepared, placed in crucibles, and stored in physiologic phosphate buffered saline and evaluated at 24 h, 1 week, and then at 1, 3, 6, 9, 12, 18, 24, 30 and 36 months. All materials …

Surface Acoustic Wave (Saw) Sensors: Physics, Materials, And Applications, Debdyuti Mandal, Sourav Banerjee

Faculty Publications

Surface acoustic waves (SAWs) are the guided waves that propagate along the top surface of a material with wave vectors orthogonal to the normal direction to the surface. Based on these waves, SAW sensors are conceptualized by employing piezoelectric crystals where the guided elastodynamic waves are generated through an electromechanical coupling. Electromechanical coupling in both active and passive modes is achieved by integrating interdigitated electrode transducers (IDT) with the piezoelectric crystals. Innovative meta-designs of the periodic IDTs define the functionality and application of SAW sensors. This review article presents the physics of guided surface acoustic waves and the piezoelectric materials …

A Systematic Approach For Developing Feed-Forward/Back-Propagating Neural Network Models For Predicting Bulk Chemical And Physical Properties Of Transition Metals, Neil Clifton Mitchell

Theses and Dissertations

Bulk materials made from transition elements and their alloys are substances used in many industrial applications and are composed of elements contained in the d- and f-blocks of the periodic table. Many of the useful properties of these materials are related to their unfilled d- and f-orbitals. It is supposed that computational models of orbitals describing two-atom homogeneous clusters of transition elements provide enough information to predict bulk chemical and physical properties of transition materials. This thesis reports the use of a simple (one hidden node) three layer feed-forward/back-propagating artificial neural network and orbital energies obtained from DFT-SCF/MO approximations to …

January 21, 2022 Ereporter, University Of Alabama At Birmingham

eReporter (campus newsletter)

No abstract provided.

Strengthening A Linear Reformulation Of The 0-1 Cubic Knapsack Problem Via Variable Reordering, Richard Forrester, Lucas Waddell

Faculty Journal Articles

The 0-1 cubic knapsack problem (CKP), a generalization of the classical 0-1 quadratic knapsack problem, is an extremely challenging NP-hard combinatorial optimization problem. An effective exact solution strategy for the CKP is to reformulate the nonlinear problem into an equivalent linear form that can then be solved using a standard mixed-integer programming solver. We consider a classical linearization method and propose a variant of a more recent technique for linearizing 0-1 cubic programs applied to the CKP. Using a variable reordering strategy, we show how to improve the strength of the linear programming relaxation of our proposed reformulation, which ultimately …

Cryofouling Avoidance In The Antarctic Scallop Adamussium Colbecki, William S. Wong, Lukas Hauer, Paul A. Cziko, Konrad Meister

Faculty, Staff, and Students

The presence of supercooled water in polar regions causes anchor ice to grow on submerged objects, generating costly problems for engineered materials and life-endangering risks for benthic communities. The factors driving underwater ice accretion are poorly understood, and passive prevention mechanisms remain unknown. Here we report that the Antarctic scallop Adamussium colbecki appears to remain ice-free in shallow Antarctic marine environments where underwater ice growth is prevalent. In contrast, scallops colonized by bush sponges in the same microhabitat grow ice and are removed from the population. Characterization of the Antarctic scallop shells revealed a hierarchical micro-ridge structure with sub-micron nano-ridges …

Exploring Substance Use And Frequency In International Students Through The Lens Of Acculturation And Social Cognitive Theory, Queenette Chimeucheya Otamiri

Health and Kinesiology Theses

Design/Objective: The research is a quantitative exploratory cross-sectional survey among international students. The goal of the research was to explore the relationship between acculturation and patterns and prevalence of substance use among the participants.

Background: There is a paucity of data regarding the influence of acculturation on recreational drug consumption and the prevalence of substance use in the United States among international college students. College students are a high-risk population for drug abuse. Substance abuse among youth is a global problem that has detrimental consequences for one’s health, family, community, and educational and professional life (Makanjuola et al., …

An Exploratory Study On The Microbiome Of Northern And Southern Populations Of Ixodes Scapularis Ticks Predicts Changes And Unique Bacterial Interactions, Deepak Kumar, Latoyia P. Downs, Abdulsalam Adegoke, Erika Machtinger, Kelly Oggenfuss, Richard S. Ostfeld, Monica Embers, Shahid Karim

Faculty Publications

The black-legged tick (Ixodes scapularis) is the primary vector of Borrelia burgdorferi, the causative agent of Lyme disease in North America. However, the prevalence of Lyme borreliosis is clustered around the Northern States of the United States of America. This study utilized a metagenomic sequencing approach to compare the microbial communities residing within Ix. scapularis populations from northern and southern geographic locations in the USA. Using a SparCC network construction model, we performed potential interactions between members of the microbial communities from Borrelia burgdorferi–infected tissues of unfed and blood-fed ticks. A significant difference in bacterial composition …

Trait Energy And Fatigue May Be Connected To Gut Bacteria Among Young Physically Active Adults: An Exploratory Study, Ali Boolani, Karyn M. Gallivan, Kristin S. Ondrak, Courtney J. Christopher, Hector F. Castro, Shawn R. Campagna, Christopher M. Taylor, Meng Luo, Scot E. Dowd, Matthew Lee Smith, Lauri O. Byerley

School of Medicine Faculty Publications

Recent scientific evidence suggests that traits energy and fatigue are two unique unipolar moods with distinct mental and physical components. This exploratory study investigated the correlation between mental energy (ME), mental fatigue (MF), physical energy (PE), physical fatigue (PF), and the gut microbiome. The four moods were assessed by survey, and the gut microbiome and metabolome were determined from 16 S rRNA analysis and untargeted metabolomics analysis, respectively. Twenty subjects who were 31 ± 5 y, physically active, and not obese (26.4 ± 4.4 kg/m2) participated. Bacteroidetes (45%), the most prominent phyla, was only negatively correlated with PF. The second …

Nanostring Digital Molecular Profiling Of Protein And Microrna In Rhabdomyosarcoma., Atif Ahmed, Midhat S. Farooqi, Sahibu Sultan M Habeebu, Elizabeth Gonzalez, Terrie Flatt, Ashley L. Wilson, Frederic G. Barr

Manuscripts, Articles, Book Chapters and Other Papers

Purpose: Rhabdomyosarcoma (RMS) exhibits a complex prognostic algorithm based on histologic, biologic and clinical parameters. The embryonal (ERMS) and spindle cell-sclerosing RMS (SRMS) histologic subtypes warrant further studies due to their heterogenous genetic background and variable clinical behavior. NanoString digital profiling methods have been previously highlighted as robust novel methods to detect protein and microRNA expression in several cancers but not in RMS.

Methods/patients: To identify prognostic biomarkers, we categorized 12 ERMS and SRMS tumor cases into adverse (n = 5) or favorable (n = 7) prognosis groups and analyzed their signaling pathways and microRNA profiles. The digital …

Editorial: Ecology, Metabolism And Evolution Of Archaea-Perspectives From Proceedings Of The International Workshop On Geo-Omics Of Archaea, Brian P. Hedlund, Chuanlun Zhang, Fengping Wang, Christian Rinke, William F. Martin

Life Sciences Faculty Research

To facilitate global efforts in addressing fundamental questions related to the biology of archaea, an international consortium of experts organized the International Workshop on Geo-Omics of Archaea (IWGOA), with the overarching themes of Ecology/Biogeochemistry, Metabolism, and Evolution. The IWGOA was held in Shenzhen, China, from October 25th to 27th, 2019. The meeting was attended by more than 200 attendees from China, Japan, USA, Australia, Germany, and France. Some of the most exciting oral and poster presentations made at the IWGOA are celebrated in this Research Topic Figure 1. The 21 manuscripts herein span different aspects of archaeal biology in both …

Common Genetic Variants Contribute To Risk Of Transposition Of The Great Arteries, Doris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik Van Weerd, Odilia I Woudstra, Fleur V Y Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J Cordell, A J Agopian, Gillian M Blue, Daniela Q C M Barge-Schaapveld, Marc Gewillig, Christoph Preuss, Elisabeth M Lodder, Phil Barnett, Aho Ilgun, Leander Beekman, Karel Van Duijvenboden, Regina Bokenkamp, Martina Müller-Nurasyid, Hubert W Vliegen, Thelma C Konings, Joost P Van Melle, Arie P J Van Dijk, Roland R J Van Kimmenade, Jolien W Roos-Hesselink, Gertjan T Sieswerda, Folkert Meijboom, Hashim Abdul-Khaliq, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Julia Moosmann, Frank-Thomas Riede, Stephan Schubert, Pilar Galan, Mark Lathrop, Hans M Munter, Ammar Al-Chalabi, Christopher E Shaw, Pamela J Shaw, Karen E Morrison, Jan H Veldink, Leonard H Van Den Berg, Sylvia Evans, Marcelo A Nobrega, Ivy Aneas, Milena Radivojkov-Blagojević, Thomas Meitinger, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F Smythe, Luis Altamirano-Diaz, Jane Lougheed, Berto J Bouma, Marie-A Chaix, Jennie Kline, Anne S Bassett, Gregor Andelfinger, Roel L F Van Der Palen, Patrice Bouvagnet, Sally-Ann B Clur, Jeroen Breckpot, Wilhelmina S Kerstjens-Frederikse, David S Winlaw, Ulrike M M Bauer, Seema Mital, Elizabeth Goldmuntz, Bernard Keavney, Damien Bonnet, Barbara J Mulder, Michael W T Tanck, Jeroen Bakkers, Vincent M Christoffels, Cornelis J Boogerd, Alex V Postma, Connie R Bezzina

Faculty, Staff and Student Publications

RATIONALE: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

OBJECTIVE: We sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA.

METHODS AND RESULTS: We conducted a genome-wide association study in an international set of 1,237 patients …