Genetics Commons^™

Genetic Effect On Body Mass Index And Cardiovascular Disease Across Generations, Chloé Sarnowski, Matthew P Conomos, Ramachandran S Vasan, James B Meigs, Josée Dupuis, Ching-Ti Liu, Aaron Leong

Faculty, Staff and Student Publications

BACKGROUND: Whether genetics contribute to the rising prevalence of obesity or its cardiovascular consequences in today's obesogenic environment remains unclear. We sought to determine whether the effects of a higher aggregate genetic burden of obesity risk on body mass index (BMI) or cardiovascular disease (CVD) differed by birth year.

METHODS: We split the FHS (Framingham Heart Study) into 4 equally sized birth cohorts (birth year before 1932, 1932 to 1946, 1947 to 1959, and after 1960). We modeled a genetic predisposition to obesity using an additive genetic risk score (GRS) of 941 BMI-associated variants and tested for GRS-birth year interaction …

Biodiversity Of Philippine Marine Fishes: A Dna Barcode Reference Library Based On Voucher Specimens, Katherine E. Bemis, Matthew G. Girard, Mudjekeewis D. Santos, Kent E. Carpenter, Jonathan R. Deeds, Diane E. Pitassy, Nicko Amor L. Flores, Elizabeth S. Hunter, Amy C. Driskell, Kenneth S. Macdonald Iii, Lee A. Weigt, Jeffrey T. Williams

Biological Sciences Faculty Publications

Accurate identification of fishes is essential for understanding their biology and to ensure food safety for consumers. DNA barcoding is an important tool because it can verify identifications of both whole and processed fishes that have had key morphological characters removed (e.g., filets, fish meal); however, DNA reference libraries are incomplete, and public repositories for sequence data contain incorrectly identified sequences. During a nine-year sampling program in the Philippines, a global biodiversity hotspot for marine fishes, we developed a verified reference library of cytochrome c oxidase subunit I (COI) sequences for 2,525 specimens representing 984 species. Specimens were primarily purchased …

Association Of Interpersonal Trauma And Polygenic Risk Scores With Depressive Symptoms In College Students, Rowan K. O'Hara

Theses and Dissertations

Major depression is considered a complex trait influenced by both polygenic risk factors and environmental exposures, such as childhood trauma. This study applied statistical genetic methods to calculate aggregate genetic risk for major depression to predict depressive symptoms scores in a college student sample. Data were from the Spit for Science (S4S) study in which college students from a large urban university self-reported interpersonal trauma (IPT) exposure prior to college and depressive symptoms from the past month (N = 7502; ancestry group: 20% African [AFR], 12% Admixed Americas [AMR], 10% East Asian [EAS], 49% European [EUR], 8% South Asian [SAS]). …

Examining Genetically-Informed Etiologic Models Of Co-Occurring Posttraumatic Stress Disorder And Recreational Cannabis Use Among College Students, Terrell A. Hicks

Theses and Dissertations

The college years encompass a period of increased risk recreational cannabis use (RCU), as well as a time of increased risk for trauma exposure and developing posttraumatic stress disorder (PTSD). Given the high co-occurrence between RCU and PTSD, and the potentially negative consequences of the two (e.g., worse academic outcomes), there is a need to understand the etiologic mechanisms of these commonly co-occurring conditions. Two primary phenotypic models exist: self-medication model (i.e., PTSD to RCU) and the high-risk model (i.e., RCU to PTSD). To date, there are two existing studies longitudinally examining the etiologic models proposed to explain co-occurring RCU …

Executive Functioning Among The Karyotypes In Turner Syndrome And Implications For Interventions, Sara Scull

Antioch University Dissertations & Theses

Turner syndrome (TS) is a genetic disorder seen in phenotypically female (pf) individuals who have either a complete or partial absence of the second sex (X) chromosome. TS includes different karyotypes, and it presents with a variety of phenotypic and genotypic features. In general, the neuropsychological profiles for individuals diagnosed suggest that TS can contribute to challenges in various aspects of daily life, including social and emotional functioning. With regard to academic performances, individuals with TS often present with relative strengths in a range of verbal abilities and relative weakness in visual-spatial/perceptual abilities, nonverbal memory, motor function, processing speed, executive …

Exome Array Analysis Of 9721 Ischemic Stroke Cases From The Sign Consortium, Huichun Xu, Kevin Nguyen, Brady J Gaynor, Hua Ling, Wei Zhao, Patrick F Mcardle, Timothy D O'Connor, O Colin Stine, Kathleen A Ryan, Megan Lynch, Jennifer A Smith, Jessica D Faul, Yao Hu, Jeffrey W Haessler, Myriam Fornage, Charles Kooperberg, On Behalf Of The Trans-Omics For Precision Medicine Topmed Stroke Working Group, James A Perry, Charles C Hong, John W Cole, Elizabeth Pugh, Kimberly Doheny, Sharon L R Kardia, David R Weir, Steven J Kittner, Braxton D Mitchell, Sign Consortium

Faculty, Staff and Student Publications

Recent genome wide association studies have identified 89 common genetic variants robustly associated with ischemic stroke and primarily located in non-coding regions. To evaluate the contribution of coding variants, which are mostly rare, we performed an exome array analysis on 106,101 SNPs for 9721 ischemic stroke cases from the SiGN Consortium, and 12,345 subjects with no history of stroke from the Health Retirement Study and SiGN consortium. We identified 15 coding variants significantly associated with all ischemic stroke at array-wide threshold (i.e., p < 4.7 × 10-7), including two common SNPs in ABO that have previously been associated with stroke. Twelve of the remaining 13 variants were extremely rare …

The Conquest Of Milk: The Rise Of Lactase Persistence And The Fall Of Scandinavian Hunter-Gatherers, Nicholas Mays

James Madison Undergraduate Research Journal (JMURJ)

Over half of the global human population suffers from lactase nonpersistence, a condition marked by losing the ability to digest lactose after infancy. However, a minority of the global population, primarily located in Central and Northern Europe, has a genetic mutation that results in lactase persistence, which is the continued ability to process lactose after infancy. This interdisciplinary analysis blends archaeology, cultural anthropology, evolutionary biology, and archaeogenetics to explore the origin and rise of lactase persistence in Europe and its contribution to the end of hunter-gatherer societies in Scandinavia. Furthermore, the paper uses gene-culture coevolutionary theory to argue that lactase …

Tree To Tree: Phylogenetics Of Diverse Anura Using Portable Lab Equipment: Primer Optimization, Bioinformatic Pipeline, And Phylogenetic Analyses Reveal Potential New Species And Ability To Identify Evolutionary Relationships In A Hyper Diverse Anura Clade Using Nanopore Sequencing, Elinor Sterner

Independent Study Project (ISP) Collection

The Corredor Llanganates-Sangay is an extremely significant region for conservation, coined a “gift to the earth” by the World Wildlife Fund. Understanding amphibians species and populations is key due to their roles as hyper sensitive bioindicators. In recent years, portable sequencing equipment (Mini PCR thermocyclers, Oxford Nanopore Technology’s MinION sequencer, etc) make genetic data collection in remote areas possible, greatly increasing potential for conservation genetics and genomics. This study uses portable equipment to sequence two mitochondrial loci in 104 Anuran samples collected in four sites in the Corridor and presents phylogenies of each gene as well as a concatenated phylogeny. …

Heterogeneity In The Prevalence Of Premature Hypertension Among Asian American Populations Compared With White Individuals: A National Health Interview Survey Study, Sina Kianoush, Mahmoud Al Rifai, Anwar T. Merchant, Xiaoming Jia, Zainab Samad, Aneil Bhalla, Ayesha Khan, Dongshan Zhu, Salim S. Virani

Section of Cardiology

Background: Differences in prevalence of risk factors such as hypertension may explain heterogeneity in cardiovascular risk across Asian American populations.
Methods: We used National Health Interview Survey (NHIS) data from 2006 to 2018 among White, Chinese, Asian Indian, Filipino, and 'other Asians' (Japanese, Korean, and Vietnamese). Unadjusted and adjusted odds ratios (aOR) with 95% confidence intervals were reported using logistic regression models for the association between race and self-reported premature hypertension (age old). Models were adjusted for sex, education, body mass index, smoking status, diabetes, and coronary heart disease.
Results: We studied 99,864 participants with history of hypertension (mean age, …

The Effects Of Physical Function And Genetics On Cognition And Blood Biomarkers In Individuals At-Risk For Alzheimer’S Disease And Related Dementias, Joshua Louis Gills

Graduate Theses and Dissertations

Alzheimer’s disease and related dementia (ADRD) rates are expected to triple by the year 2050. Early detection and specific mitigation efforts are warranted to blunt the alarming rate. Physical function (PF) declines with age, but higher physical function is associated with better cognitive functioning in middle-to- older age individuals. Moreover, greater physical activity (PA) is associated with better global cognition; however, Apoliporotein e4 carriers may not gain the same benefits with exercise. Additionally, plasma phosphorylated tau 217 (p-tau217) has been identified as a novel diagnostic ADRD biomarker which needs further research to examine associations with risk factors. Therefore, the aims …

Genetic Impacts Of Deforestation On Mouse Lemurs, Darice Westphal

Dissertations, Theses, and Capstone Projects

The impact of deforestation on the genetic structure of mouse lemurs is poorly understood. In this project, I assess deforestation of Madagascar’s terrestrial protected regions, quantify genomic wide genetic variation in two sympatric mouse lemurs, and evaluate the role of landscape structure in genetic relatedness patterns within two sympatric mouse lemur species. Overall deforestation rates across the 98 terrestrial protected areas in Madagascar are increasing, resulting in an average annual deforestation rate of 0.68% per year, with approximately 10,600 km² lost between 2000 and 2019. In a comparison of relatedness patterns between the sympatric gray mouse lemur (Microcebus …

Parental Stress In Tuberous Sclerosis Complex, Jenny Do

Dissertations and Theses (Open Access)

Tuberous Sclerosis Complex (TSC) is a multi-systemic genetic disorder with great clinical variability. As the needs of one child with TSC may vastly differ from another, parenting demands may similarly differ. Characterizing parental stress, or emotional maladaptation arising from parenting duties, can enable healthcare providers to assist parents of children most efficiently with TSC-related symptoms and improve both parent and child health outcomes. This study surveyed 269 parents of children (aged 0-12 years) with TSC and received the following information: children’s TSC clinical features, parent demographics, and a Parent Stress Index (PSI) score. Parents reported higher stress levels for children …

Invisible Disabilities, Academic Capital And Competitiveness Of Genetic Counseling Applicants, Natalie E. Stoner, Meagan Choates, Carla Mcgruder, Debra Murray, Theresa Wittman, Sara Wofford, Claire N. Singletary

Dissertations and Theses (Open Access)

The field of genetic counseling has historically lacked diversity. Recent research has begun to explore how visible diversity may present barriers to a genetic counseling applicant becoming competitive, but has not yet characterized potential barriers with invisible diversities, such as being a first-generation college student, or a part of the LBGTQ+ community. Therefore, this study aimed to address this gap among those with invisible diversities, as well as explore their academic capital (AC), a theoretical framework used to identify factors that make students more likely to succeed in post-secondary work including supportive networks, trustworthy information, family uplift, college knowledge, overcoming …

For Whom The Bell Tolls: Psychopathological And Neurobiological Correlates Of The Dna Methylation Index Of Time-To-Death, Sage E. Hawn, Xiang Zhao, Danielle R. Sullivan, Mark Logue, Dana Fein-Schaffer, William Milberg, Regina Mcglinchey, Mark W. Miller, Erika J. Wolf

Psychology Faculty Publications

Psychopathology is a risk factor for accelerated biological aging and early mortality. We examined associations between broad underlying dimensions of psychopathology (reflecting internalizing and externalizing psychiatric symptoms), PTSD, and age-adjusted GrimAge (“GrimAge residuals”), a DNA methylation biomarker of mortality risk relative to age. We also examined neurobiological correlates of GrimAge residuals, including neurocognitive functioning, blood-based biomarkers (of inflammation, neuropathology, metabolic disease), and cortical thickness. Data from two independent trauma-exposed military cohorts (n = 647 [62.9% male, M_age = 52], n = 434 [90% male, M_age = 32]) were evaluated using linear regression models to test associations between …

Evaluating A Test For Shedding Propensity Using Tape Lifts From Different Skin Locations, Xiao M. Chen

Student Theses

The shedding propensity of a person can assist data interpretation in casework when assessing the possibility of passive transfer for DNA analysis. Past studies on shedding propensity evaluated palmar skin (washed and unwashed) deposits. This study compared different skin locations with respect to shedding propensity, and explored the potential of tape-lifts as a skin surface collection method. Eight different skin types and samples were collected with adhesive tape disks from 28 participants over three non-consecutive days; the washed and unwashed fingers from both hands, toe, and arm, neck below ear, and nape. Samples were extracted, quantified, amplified, genotyped, and evaluated …

Otoliths Of South-Western Australian Fish: A Photographic Catalogue, Chris Dowling, Kim Smith, Elaine Lek, Joshua Brown

Fisheries Research Reports

Due to the species-specific nature of otoliths and given they are often the only part of the fish preserved when fish die, otolith catalogues can be used in numerous applications, such as diet studies in fish eating animals, including pinnipeds, fish and sea birds; archaeological purposes such as reconstructing indigenous people’s diets from otoliths found in middens or evolutionary history of fish species by comparing fossilized otoliths. Given the unique mixture of subtropical and temperate fish, including many endemic species that occur off the southwest corner of WA having a catalogue for this area is extremely important for people working …

Having A High-Activity Catechol-O-Methyltransferase Allele Is Associated With Elevated Anxiety And Lower Salivary Dehydroepiandrosterone But Also Lower Alpha Amylase In Children With Chromosome 22q11.2 Deletion Syndrome., Jessie Beebe

LSU New Orleans Theses and Dissertations

Chromosome 22q11.2 deletion syndrome (22q11.2DS) results from a hemizygous deletion located on the long arm of chromosome 22. The most common deletion sizes affect between 30 and 90 genes. Individuals with 22q11.2DS may develop serious developmental and psychiatric disorders. The phenotype is highly variable, however, and may be influenced by allelic variation of the retained copies of genes covered by the deletion. I set out to examine the effects of two genes, catechol-O-methyltransferase (COMT) and proline dehydrogenase (PRODH), in relation to anxiety in children and adolescents with 22q11.2DS. Individuals with the major COMT allele (higher activity) have significantly higher anxiety …

Patterns Of Recent Natural Selection On Genetic Loci Associated With Sexually Differentiated Human Body Size And Shape Phenotypes, Audrey M. Arner, Kathleen E. Grogan, Mark Grabowski, Hugo Reyes-Centeno, George H. Perry

Anthropology Faculty Publications

Levels of sex differences for human body size and shape phenotypes are hypothesized to have adaptively reduced following the agricultural transition as part of an evolutionary response to relatively more equal divisions of labor and new technology adoption. In this study, we tested this hypothesis by studying genetic variants associated with five sexually differentiated human phenotypes: height, body mass, hip circumference, body fat percentage, and waist circumference. We first analyzed genome-wide association (GWAS) results for UK Biobank individuals (~194,000 females and ~167,000 males) to identify a total of 114,199 single nucleotide polymorphisms (SNPs) significantly associated with at least one of …

The Role Of Placental Genes On Intellectual Disability And Developmental Delay, Maedot A. Yidenk

Dissertations, Theses, and Capstone Projects

The complex interaction between gene expressions and environmental factors plays a key role in the pathogenesis of various diseases, including neurodevelopmental disorders (Lenroot & Giedd, 2008). This study aimed to evaluate first, the magnitude of association between placental gene Methyl-CpG Binding Protein 2 (MeCP2) and intellectual disability (ID) in the offspring and second, the synergy between placental gene Forkhead box protein 1(FOXP1) and developmental delay (DD) in the offspring. We focused on assessing two specific paradigms, i) placental gene expressions of MeCP2 among children that have ID vs. children without ID; and ii) placental gene expression of …

Big Five Personality Traits And Political Orientation: An Inquiry Into Political Beliefs, Ian E. Phillips

The Downtown Review: An Interdisciplinary Journal Written and Peer-Reviewed by Mandel Honors College Students at Cleveland State University

Personality research centered on the Big Five personality traits has heavily impacted our understanding in regards to what forces orient a person on a political spectrum. Examining how personality differences interact with political orientation, this research seeks to provide information on what makes someone either more or less likely to be liberal or conservative based on their temperament. In this paper, previous personality research is synthesized into one discussion, centered on what the effects of each trait are and how they impact political orientation, the heritability of personality, and what implications there are for such research in the realm of …

Assessing Genetic Counselors' Clinical Approach And Practices Regarding Pathogenic/Likely Pathogenic Variant Downgrades, Grant Bonesteele

Dissertations and Theses (Open Access)

Although rare, variant downgrades from a pathogenic/likely pathogenic (P/LP) variant to a variant of uncertain significance can have a significant impact on patients and their families in the clinical cancer setting. However, there is a lack of literature about how to approach these potentially challenging cases as a genetic counselor. Therefore, we aimed to characterize genetic counselors’ experiences, approach, and practices to variant downgrade cases using an online survey. The survey asked participants how they would approach variant downgrade scenarios involving the CDH1 or ATM genes with variable family histories. Genetic counselors appear to be united in whether they would …

Determination Of Human Shedding Propensity Based On Str Results, Genevieve Trapani

Student Theses

Trace DNA evidence may be discovered at a crime scene after having been deposited by a person of interest via active or passive transfer. Based on previous studies, passive transfer of one’s DNA is influenced by their shedding propensity, or probability of depositing a detectable amount of DNA through touch. Determining the shedding propensity of a person of interest can aid in trace DNA interpretation in forensic casework. This study explored STR profile quality and the presence of a DNA mixture for different skin surface locations, including fingertips before and after handwashing. As expected, unwashed fingers showed a higher prevalence …

The Genetic Links Between Archaic And Modern Humans, Maria J. Orellana Rosales

Thinking Matters Symposium

Our modern physiology is the mixture of many archaic humans that once roamed our planet. The evidence of these archaic humans is still present in our DNA. This poster reviews how our understanding of ancient human genetics has drastically changed due to advances in molecular genetics. Neanderthal and Denisovan remains have been sequenced for nuclear and mitochondrial DNA. Neanderthal and Denisovan genetic ancestry have been identified by genomic studies in modern human populations across Eurasia and Pacific Island regions. Studies have shown a gene flow of 4±1% from Neanderthals to present-day Eurasians. Whereas, Papuan and Melanesian individuals share 4±0.7% more …

Genetically Modified Organisms Are Important But Also Controversial, Masen Pelletier

Thinking Matters Symposium

Genetically modified organisms (GMOs) are organisms containing a set or multiple sets of genes that have been introduced into the organism using laboratory techniques. In the instance of agriculture, the genes introduced provide advantages for the farmer and consumer by yielding plants that produce greater yields, longer growing seasons, longer shelf lives, greater concentrations of vitamins or add additional vitamins that are novel to the plant. There are two general ways that GM (genetically modified) crops are produced: the addition or removal of genes. This review focuses on an example of each strategy. An example of the latter is GM …

Attitudes And Opinions About Direct-To-Consumer Genetic Testing In Undergraduate Science Students, Morgan N. Driver, Sally I-Chun Kuo, Olivia Nayeri, Chloe J. Walker, Chelsea Derlan Willians, Tricia Smith, Amy E. Adkins, Danielle M. Dick

Graduate Research Posters

Background: There has been exponential growth in the number of direct-to-consumer genetic testing kits sold in the past decade. Consumers utilize direct-to-consumer genetic tests for a number of reasons which include learning about one’s ancestry and potential ways to manage health. Emerging adults tend to be early adopters of new technologies; however, there has been little research regarding the opinions about direct-to-consumer genetic testing in emerging adults.

Methods: Data came from a study conducted in an upper-level biology course focusing on understanding undergraduate science students’ overall experiences with receiving personalized genetic testing results from 23andMe. The present study used data …

The Law Of Black Mirror - Syllabus, Yafit Lev-Aretz, Nizan Packin

Open Educational Resources

Using episodes from the show Black Mirror as a study tool - a show that features tales that explore techno-paranoia - the course analyzes legal and policy considerations of futuristic or hypothetical case studies. The case studies tap into the collective unease about the modern world and bring up a variety of fascinating key philosophical, legal, and economic-based questions.

Microrna Gene Expression States Underlying Individual Variation In Aging And Lifespan In Isogenic C. Elegans, Holly Kinser

McKelvey School of Engineering Graduate Student Theses & Dissertations

Average lifespan differs greatly between species, but lifespan among same-species individuals is also highly variable. While much effort has been devoted to uncovering longevity-associated traits and lifespan-extending perturbations in humans and model organisms, how differences in lifespan arise between individuals is unknown. Studies of human identical twins demonstrate that surprisingly little of the variation in lifespan between individuals can be explained by genetics and shared environment. Furthermore, even genetically identical C. elegans reared in highly homogeneous environments display a degree of variability in lifespan similar to that of outbred human populations. Thus, longevity must be determined at least in part …

The Trauma Of Head Injury

DePaul Magazine

Thanks to the vision and leadership of Vincent de Paul Professor of Biological Sciences Dorothy Kozlowski, who has teamed with scientists and researchers across the country, DePaul is playing an instrumental role in advancing our understanding of the speci­fic causes and e‑ffects of traumatic brain injury (TBI). In collaboration with colleagues at DePaul partner institution Rosalind Franklin University of Medicine and Science, Kozlowski developed a novel animal model to study the connection between repeat concussions and long-term health problems. Some of the research includes looking at learning and memory on the cellular level for those with Alzheimer’s and TBI, and …

Discrimination Of Monozygotic Twins Using Dna Methylation Levels Of One Cpg Site At Chromosome 3, Dino O. Robinson

Student Theses

Conventional STR typing, commonly used in forensics for human identification, poses a problem in criminal cases and paternity disputes involving monozygotic (MZ) twins because they share identical DNA sequences. To date, no routine method is available in forensics to differentiate between individuals of MZ pairs. Recently, epigenetic methods measuring differential DNA methylation patterns have been applied to MZ twin differentiation. In this study, we investigated the potential to identify MZ twins using a previously identified DNA methylation site in chromosome 3, cg18562578, in a sample of 129 MZ and 37 dizygotic (DZ) twin pairs. We used bisulfite converted saliva DNA …

Development Of Arkansas Net Energy Equation, Katie Hilton

Graduate Theses and Dissertations

The modern broiler is growing at a rapid rate generating tremendous amounts of heat. A sensitive Net Energy (NE) system is needed to measure body heat production (HP) generated primarily by daily maintenance and synthesis and degradation of myofibrillar and sarcoplasmic protein. The first two chapters present evaluation of the classic way to calculate NE versus a new methodology; the Arkansas NE (Ark NE) system, with birds from two genetic lines fed diets with different AA content or different ME content in two different environmental temperatures.

Utilizing together the Net Energy maintenance (NEm), determined from indirect calorimetry, and Net Energy …