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Articles 3901 - 3930 of 10600
Full-Text Articles in Entire DC Network
L-Quebrachitol Modulates The Anti-Convulsant Effects Of Carbamazepine Possibly Through Voltage-Gated Sodium Channel Blocking Mechanism In Chicks: In Vivo And In Silico Studies, Asifa Asrafi, Mohammad Aslam, Ali G. Alkhathami, Md. Sakib Hossain, Imam Hossen Rakib, Md. Sakib Al Hasan, Feroz Khan Nun, Md. Faisal Amin, Muhammad Torequl Islam
L-Quebrachitol Modulates The Anti-Convulsant Effects Of Carbamazepine Possibly Through Voltage-Gated Sodium Channel Blocking Mechanism In Chicks: In Vivo And In Silico Studies, Asifa Asrafi, Mohammad Aslam, Ali G. Alkhathami, Md. Sakib Hossain, Imam Hossen Rakib, Md. Sakib Al Hasan, Feroz Khan Nun, Md. Faisal Amin, Muhammad Torequl Islam
School of Integrative Biological & Chemical Sciences Faculty Publications
Introduction: L-Quebrachitol (LQB), a naturally occurring bioactive compound, exhibits anti-inflammatory, anti-oxidant, anti-cancer, and anti-diabetic properties. However, its therapeutic potential in convulsant management remains largely unexplored. The objective of this study was to investigate the anticonvulsant effects of LQB in an In Vivo model and to examine its molecular interactions via In Silico docking simulations.
Methods: In the In Vivo study, pentylenetetrazol (PTZ) was administered intraperitoneally (i.p.) at 80 mg/kg to induce convulsions, and the test animals were treated orally with three doses of LQB (1, 5, and 10 mg/kg), with carbamazepine (CBZ) at 80 mg/kg as a standard drug.
Results: …
Assessment Of Preoperative Factors In Relation With Difficulty Of Laparoscopic Cholecystectomy, Ahmed Nayyef, Hayder Alkawaz
Assessment Of Preoperative Factors In Relation With Difficulty Of Laparoscopic Cholecystectomy, Ahmed Nayyef, Hayder Alkawaz
Iraqi Postgraduate Medical Journal
IntroductionLaparoscopic cholecystectomy is the gold standard for treatment of gallbladder diseases It is relatively a simple and quick procedure, but it can be difficult, and needs special instruments and an experienced surgeon. Moreover, in specific situations, conversion from laparoscopic to open approach is still required. However, identifying the preoperative patient-related factors, and anticipating the need to convert from laparoscopic cholecystectomy to open surgery can help identifying high-risk patients and redefine the surgical strategy needed Aim:Assessing laparoscopic cholecystectomies, by identifying the preoperative factors that predict the difficulty of laparoscopic cholecystectomy.Patients and MethodA prospective cross-sectional study conducted in Al Yarmouk Teaching Hospital …
Carroll County Food Access Network Resource List, Mikayla Cerney
Carroll County Food Access Network Resource List, Mikayla Cerney
UNH Cooperative Extension
No abstract provided.
Placental Metabolism Is Linked To Prenatal Vitamin Supplement Use In The First Month Of Pregnancy In The Marbles Cohort, Mariana Parenti, Rebecca J Schmidt, Daniel J Tancredi, Meghan Miller, Irva Hertz-Picciotto, Cheryl K Walker, Carolyn M Slupsky
Placental Metabolism Is Linked To Prenatal Vitamin Supplement Use In The First Month Of Pregnancy In The Marbles Cohort, Mariana Parenti, Rebecca J Schmidt, Daniel J Tancredi, Meghan Miller, Irva Hertz-Picciotto, Cheryl K Walker, Carolyn M Slupsky
Faculty, Staff and Students Publications
Background: The first month of pregnancy is a key time in early developmental programming. Prenatal vitamin/mineral supplement use during the first month of pregnancy (PNVmo1) was associated with reduced risk of autism spectrum disorder (ASD) in the Markers of Autism Risk in Babies, Learning Early Signs (MARBLES) cohort.
Objectives: We aimed to evaluate the associations between PNVmo1, the placental and umbilical cord serum metabolomes, and the child's later neurodevelopmental outcome in the MARBLES pregnancy cohort.
Methods: Placental (n = 78) and umbilical cord serum (n = 132) metabolomes were investigated using 1H nuclear magnetic resonance spectroscopy. PNVmo1 was determined by …
Short-Term Neurologic Outcomes In Pediatric Extracorporeal Membrane Oxygenation Are Proportional To Bleeding Severity Graded By A Novel Bleeding Scale, Katherine Doane, Danielle Guffey, Laura L Loftis, Trung C Nguyen, Matthew A Musick, Amanda Ruth, Ryan D Coleman, Jun Teruya, Christine Allen, Melania M Bembea, Brian Boville, Jamie Furlong-Dillard, Santosh Kaipa, Mara Leimanis, Matthew P Malone, Lindsey K Rasmussen, Ahmed Said, Marie E Steiner, Deanna T Tzanetos, Heather Viamonte, Linda Wallenkamp, Arun Saini
Short-Term Neurologic Outcomes In Pediatric Extracorporeal Membrane Oxygenation Are Proportional To Bleeding Severity Graded By A Novel Bleeding Scale, Katherine Doane, Danielle Guffey, Laura L Loftis, Trung C Nguyen, Matthew A Musick, Amanda Ruth, Ryan D Coleman, Jun Teruya, Christine Allen, Melania M Bembea, Brian Boville, Jamie Furlong-Dillard, Santosh Kaipa, Mara Leimanis, Matthew P Malone, Lindsey K Rasmussen, Ahmed Said, Marie E Steiner, Deanna T Tzanetos, Heather Viamonte, Linda Wallenkamp, Arun Saini
Faculty, Staff and Students Publications
Patients admitted to a pediatric intensive care unit (PICU) need individualized nutrition support that is tailored to their particular disease severity, nutritional status, and therapeutic interventions. We aim to evaluate how calories and proteins are provided during the first seven days of hospitalization for children in critical condition with organ dysfunction (OD). A single-center retrospective cohort study of children aged 2–18 years, mechanically ventilated > 48 h, and admitted > 7 days to a PICU from 2016 to 2017 was carried out. Nutrition support included enteral and parenteral nutrition. We calculated scores for the Pediatric Sequential Organ Failure Assessment (pSOFA) on days …
Microbial Biosensor For Sensing And Treatment Of Intestinal Inflammation, Duolong Zhu, Jeffrey Galley, Jason Pizzini, Elena Musteata, Martin V Douglas, Walter J Chazin, Eric P Skaar, Jeffrey J Tabor, Robert A Britton
Microbial Biosensor For Sensing And Treatment Of Intestinal Inflammation, Duolong Zhu, Jeffrey Galley, Jason Pizzini, Elena Musteata, Martin V Douglas, Walter J Chazin, Eric P Skaar, Jeffrey J Tabor, Robert A Britton
Faculty, Staff and Students Publications
Synthetic biology has enabled the development of biosensors to detect intestinal inflammation, yet few target the clinically validated biomarker of intestinal inflammation calprotectin with both diagnostic and therapeutic capabilities. Here, an optimized calprotectin biosensor is presented that leverages a zinc uptake regulator (Zur) controlled promoter coupled with a memory circuit to detect and record intestinal inflammation in vivo. The level of biosensor activation strongly correlates with calprotectin levels in the colon of two independent mouse models of colitis. Coupling of the biosensor with the production of the anti-inflammatory cytokine IL10 allowed for the resolution of chemically induced colitis, demonstrating the …
Metabolomic Data May Support The Development Of Personalized Nutrition Approaches To Type 2 Diabetes Management, Danielle J Lee, Shragvi Balaji, Jerome I Rotter, Alexis C Wood
Metabolomic Data May Support The Development Of Personalized Nutrition Approaches To Type 2 Diabetes Management, Danielle J Lee, Shragvi Balaji, Jerome I Rotter, Alexis C Wood
Faculty, Staff and Students Publications
Diet is a major modifiable risk factor for type 2 diabetes (T2D), and suboptimal diets continue to contribute substantially to the population burden of T2D. Personalized nutrition proponents argue that specializing recommendations to interindividual differences in diet-health relationships will yield reductions in disease risk. However, how to personalize diet, and to whom, to reduce T2D risk remains unclear. Metabolites offer promise in this respect, as they capture (in part) dietary intake after the processes of digestion, processing, and absorption. The incorporation of metabolite data into diet-health studies therefore offers the opportunity to examine how the effects of food on the …
Φυσιολατρία (2), Eleni V. Angelos
Φυσιολατρία (2), Eleni V. Angelos
Digressions: Literary & Art Journal
Artist Statement
"φυσιολατρία is a Greek word that refers to sympathetic perception of the natural world in its uncultivated state. My pieces were inspired by my time spent outside when I am fully conscious and being mindful of my surroundings. I wanted to portray my feelings of connectedness, along with patterns/colors that I notice when I fully present in nature."
Φυσιολατρία, Eleni V. Angelos
Φυσιολατρία, Eleni V. Angelos
Digressions: Literary & Art Journal
No abstract provided.
Impact Of Insulin Resistance In Pcos (Lh/Fsh) In A Group Of Woman In Baghdad City, Roua Shehab-Aldeen Ahmed, Fatima Amer Abd Aljabar, Nadia Mohammed Mahdi Al-Shakir
Impact Of Insulin Resistance In Pcos (Lh/Fsh) In A Group Of Woman In Baghdad City, Roua Shehab-Aldeen Ahmed, Fatima Amer Abd Aljabar, Nadia Mohammed Mahdi Al-Shakir
Al-Esraa University College Journal for Medical Sciences
Background: Polycystic ovarian syndrome is an endocrinological disorder influencing ladies, and it is the foremost common cause of menstrual unsettling influence amid the regenerative age. Polycystic ovary disorder (PCOS) is in fact a chronic form of anovulation that is usually observed besides a large spectrum of clinical symptoms and signs. Objectives: The study's main goal is to evaluate the hormonal indicators of ``PCOS'' and insulin resistance and determine how insulin resistance affects these hormones. Materials and methods: This study included 130 women, aged 19--38, who were separated into three bunches: 40 women with ``PCOs'' who were treated with metformin and …
Three Essays In Development Economics, Vardaan Chawla
Three Essays In Development Economics, Vardaan Chawla
Dissertations and Theses Collection (Open Access)
This dissertation explores policy-relevant questions through three empirical studies on issues related to education, human capital formation, and consumer protection in developing countries. The first two chapters focus on education policies in India and examine their intended and unintended impacts on children’s schooling and labour-market outcomes. The third chapter evaluates a new approach to tackle consumer protection issues in digital finance in Uganda and Bangladesh. Across all three, this dissertation reflects an interest and understanding in advancing evidence-based policymaking in developing countries, be it in education or consumer protection.
In the first chapter, we evaluate the impact of the midday …
Validation Of Established Thyroid Ultrasound Volume Norms In A Chernobyl Cohort, Lydia B. Zablotska, Robert J. Mcconnell, Aleksandr V. Rozhko, Patrick O'Kane, Vasilina Yauseyenka, Mark P. Little, Victor Minenko, Vladimir Drozdovitch, Tamara Moskvicheva, Maureen Hatch, Tamara Yeudachkova, Kiyohiko Mabuchi, Elizabeth K. Cahoon
Validation Of Established Thyroid Ultrasound Volume Norms In A Chernobyl Cohort, Lydia B. Zablotska, Robert J. Mcconnell, Aleksandr V. Rozhko, Patrick O'Kane, Vasilina Yauseyenka, Mark P. Little, Victor Minenko, Vladimir Drozdovitch, Tamara Moskvicheva, Maureen Hatch, Tamara Yeudachkova, Kiyohiko Mabuchi, Elizabeth K. Cahoon
Department of Radiology Faculty Papers
OBJECTIVE: To establish thyroid ultrasound volume norms appropriate for studies of diffuse goiter in a cohort of children and adolescents from an iodine-deficient population exposed to 131I by the Chernobyl fallout.
METHODS: A cohort of 11,970 Belarusians aged ≤18 years at the time of the 1986 Chernobyl accident with individual thyroid radiation dose estimates was screened 10-18 years later. From these, a low-dose subset of 2,392 with no thyroid diseases was selected to construct age- and sex-specific normative values for thyroid ultrasound volume, compared to Belarusian Ministry of Health (MOH) norms and existing WHO and European standards.
RESULTS: Cohort-specific values …
Fostering Resilience Through Near Peer Mentorship In Elementary School, Bway Paw
Fostering Resilience Through Near Peer Mentorship In Elementary School, Bway Paw
School of Education and Leadership Student Capstone Projects
Near-peer mentoring involves pairing students with peers who are close in age but slightly more advanced in experience ensures the students' needs are met in ways that feel supportive and accessible. This capstone project explores how peer mentoring fosters social-emotional resilience in elementary students. The project is designed for a ten-week curriculum using the Minnesota SEL standard, which uses CASEL’s five competencies to be integrated into the classroom. Frameworks that carry this project include Bandura's social learning theory and self-efficacy, Vygotsky's Zone of Proximal Development (ZPD), Identity-Based Motivation (IBM), along with Masten’s ordinary magic. Research on resilience highlights that resilience …
Examining The Impact Of Teacher Participation In Pedagogical Content Knowledge Development Intervention On The Academic Achievement Of Culturally And Socioeconomically Diverse Students, Emelyne Viteve Baucicaut
Examining The Impact Of Teacher Participation In Pedagogical Content Knowledge Development Intervention On The Academic Achievement Of Culturally And Socioeconomically Diverse Students, Emelyne Viteve Baucicaut
Theses and Dissertations
This action research study examines the impact of a Pedagogical Content Knowledge (PCK) intervention on elementary teachers' instructional practices and student outcomes in Math and English Language Arts (ELA). The goal was to address student underperformance by enhancing teachers' PCK and exploring how improved content knowledge and pedagogical strategies influence classroom teaching and student achievement. Using a concurrent mixed-methods design, baseline data were collected through surveys, classroom observations, and student assessments. Over five weeks, teachers participated in professional development focused on lesson planning, student exemplars, and success criteria. Due to scheduling constraints, computer-based assessments were replaced by analyzing student work …
Investigating The Ecology Of The Homeless Court: The Promise Of Quasi-Experimental And Statistical Learning Methods, Dylan Wong
Theses and Dissertations
Interactions with the legal system are a crucial factor in maintaining homelessness. Difficulties in addressing legal issues are barriers to accessing services and finding employment and housing. Across the United States, the homeless court is an emerging legal program that has been developed to break this cycle, but they appear to face numerous capacity and coordination problems. Few empirical and systematic investigations have been conducted on homeless court programs. Further, previous studies of homeless courts focus their process and outcome measures on the priorities of the legal system. An investigation into the ecology, or environmental context, of homeless persons would …
Camp In The Kitchen: Feminism And Craft In Liza Lou's Beaded Worlds, Aurora X. Bell
Camp In The Kitchen: Feminism And Craft In Liza Lou's Beaded Worlds, Aurora X. Bell
Theses and Dissertations
Kitchen (1991–96) was the first major work of art by American artist Liza Lou. It is an installation of a life-size kitchen in which every surface and object is covered in glass beads. Kitchen, which Lou refers to as a monument to women’s unsung domestic labor, received considerable critical attention and drew the artist into ongoing conversations around the relationship between “fine art” and “craft” and about the role of feminism in the art of the 1990s. In contemporary interviews, however, Lou expressed discomfort with the label of “craft” as well as with feminist art that she considered “didactic.” …
Multi-Dimensional Strategies Impacting Beginning Readers’ Word Solving And Engagement, Brooke Clayton
Multi-Dimensional Strategies Impacting Beginning Readers’ Word Solving And Engagement, Brooke Clayton
Theses and Dissertations
This dissertation studied the impact of reading instruction on beginner-level readers’ decoding skills and engagement among four first-grade students in Lexington, South Carolina. The following research question directed the study:
Will an instructional strategy foregrounded on direct, systematic phonics instruction in conjunction with multi-dimensional reading strategies improve beginner readers’ decoding skills and engagement?
The study is grounded in several theoretical frameworks, including Scarborough’s Reading Rope (Appendix A), the Simple View of Reading, the Active View of Reading (Appendix C), Onset-Rime phonics instruction, and Self-Determination Theory. Interventions included the LETRS Science of Reading Phonics Small Group Plan (Moats & Tolman, 2019) …
Cultural Competency Of Teachers And Its Effect On Their Instructional Practices, Martin Sims
Cultural Competency Of Teachers And Its Effect On Their Instructional Practices, Martin Sims
Theses and Dissertations
Core content teachers at S Middle School participate in a study that reveals how increased cultural competency levels among 7th-grade core content teachers positively influences their instructional practices. The increased cultural competency led to a more inclusive and effective learning environment across all core content areas. Throughout the study, teachers reflected on their own cultural identities while also considering the diverse cultural backgrounds of their students in each class period. As a result, teachers gained a deeper understanding of how cultural factors shape students' learning experiences and needs. The participants adjusted their teaching strategies to better connect with …
The Intersection Of Rurality And Wellness: A Multi-Manuscript Investigation Into Rural Well-Being, Lucas Perez
The Intersection Of Rurality And Wellness: A Multi-Manuscript Investigation Into Rural Well-Being, Lucas Perez
Theses and Dissertations
Rural communities face unique mental health and wellness challenges, including geographic isolation, provider shortages, and stigma surrounding help-seeking. This dissertation explores rural wellness through three interrelated studies, utilizing both qualitative and quantitative methods to examine disparities, perceptions of rurality, and demographic influences on well-being. The first study utilized the Five Factor Wellness Inventory (5F-WEL) to compare wellness scores between rural and non-rural individuals. The second study employed Interpretative Phenomenological Analysis (IPA) to explore rural definitions of wellness, as well as barriers and strengths related to mental health. The third study examined how perceptions of rurality and demographic factors predict wellness …
Deprivation And Threat As Predictors Of Executive Functioning And Emotion Regulation In Early Adolescence: The Protective Role Of School Support, Abigail Best De Arellano
Deprivation And Threat As Predictors Of Executive Functioning And Emotion Regulation In Early Adolescence: The Protective Role Of School Support, Abigail Best De Arellano
Theses and Dissertations
Childhood adversity (CA) impacts a large proportion of US youth with far reaching consequences for development and subsequent health outcomes (McLaughlin et al., 2012). Given the widespread impact of CA, it is imperative to understand how these exposures impact development, as well as identify opportunities for intervention. McLaughlin and Sheridan (2016) proposed the Dimensional Model of Adversity of Psychopathology (DMAP), providing a framework for understanding the heterogeneity of outcomes related to exposure to CA. DMAP emphasizes that deprivation (i.e., lack of expected cognitive or social stimulation) and environmental threat (i.e., exposure to harm or the threat of harm) impacts youth …
Exploring The Holistic Wellness Of Black Women Counselors, Shanta A. Jerideau
Exploring The Holistic Wellness Of Black Women Counselors, Shanta A. Jerideau
Theses and Dissertations
Counselor wellness is crucial for clinician longevity and ethical practice. However, there is limited literature on the holistic wellness of Black women counselors. This manuscript probes into the lived experiences of Black women counselors, particularly in relation to the sociopolitical climate and racial injustices in the United States. Utilizing Consensual Qualitative Research, we examine the experiences of 15 Black women counselors working in counselor education, private practice, and community agencies within the Southeast Region of the United States. We anticipate this approach will enhance counselor education literature and foster increased peer support.
Novel Approaches To Combat Neuro-Degradation: Investigations Of Two Supplemental Strategies Aimed At Improving Warfighter Performance, Blaine Lints
Theses and Dissertations
This dissertation examines the efficacy of two distinct nutritional supplementation strategies for improving physical and/or cognitive performance under stress. The first study investigated the effects of 150 mg caffeine plus 150 mg theacrine ingestion in tactically trained individuals. Results indicated that the combination of caffeine and theacrine was associated with significant improvements in reaction time, accuracy, and measures of ocular control following high-intensity interval (HII) exercise. The HII exercise protocol consisted of ten repetitions of 60s high-intensity intervals (≥90% maximal oxygen uptake [VO2max]) followed by 120s low-intensity intervals (~40% VO2max) on a treadmill. These benefits were …
Investigating Mechanisms And Day-Level Factors That Influence Children’S 24-Hour Movement Behaviors, Hannah Parker
Investigating Mechanisms And Day-Level Factors That Influence Children’S 24-Hour Movement Behaviors, Hannah Parker
Theses and Dissertations
Twenty-four hour movement behaviors (i.e., physical activity (PA), screen time (ST), and sleep) are associated with health outcomes, chronic disease (obesity, type 2 diabetes), and mortality. Most literature evaluating children’s 24-hour movement behaviors has focused on static person-level demographic information such as age or biological sex. Relatively less work has examined the variable factors that change day to day, such as environment or context. The Structured Days Hypothesis (SDH) suggests that when children are in structured environments, they have healthier movement behaviors compared to less structured environments where children have more discretionary time to engage in obesogenic behaviors. Besides school/childcare, …
I Belong Here And Am Thriving: Understanding Full-Time Graduate Student Well-Being And Belonging In An Msw Program, Lana Hart Elkins
I Belong Here And Am Thriving: Understanding Full-Time Graduate Student Well-Being And Belonging In An Msw Program, Lana Hart Elkins
Theses and Dissertations
Graduate-level social work students face high levels of stress that can impact their academic success and well-being. According to a national college health assessment, fulltime Master of Social Work (MSW) students at a southeastern university report significantly more academic, career-related, and financial stress than peers in other graduate programs. This study addressed the need to better understand full-time MSW student experiences and identify ways the program can mitigate stress, promote wellbeing, and foster a sense of belonging. Using a two-phase qualitative action research design, the study first analyzed responses to 12 open-ended questions from four student feedback surveys. These findings …
The Impact Of Adverse Childhood Experiences And Living With Hiv On Cardiovascular Health And Cardiometabolic Disorders In An African Population: An Analysis Of The Indepth Community In Rural South Africa, Samuel Gavi
Theses and Dissertations
Background: Adverse Childhood Experiences (ACEs) have been shown to be associated with cardiometabolic disorders (CMDs) and poor CVH; however, in Africa, this has not been well studied. Cardiovascular health (CVH) is an important measure of risk for cardiovascular diseases (CVD) developed by the American Heart Association (AHA). With the increasing prevalence of CVD in Africa, CVH is a potential upstream prevention approach. Africa also has the highest prevalence of HIV, and an increasing prevalence of comorbidities associated with it. Various mechanisms have been investigated to explain the relationship between CVD and chronic HIV infection. This study explores the potential relationship …
Functional Time Transformation Model With Applications To Digital Health, Rahul Ghosal Ph.D., Marcos Matabuena, Sujit K. Ghosh
Functional Time Transformation Model With Applications To Digital Health, Rahul Ghosal Ph.D., Marcos Matabuena, Sujit K. Ghosh
Faculty Publications
The advent of wearable and sensor technologies now leads to functional predictors which are intrinsically infinite dimensional. While the existing approaches for functional data and survival outcomes lean on the well-established Cox model, the proportional hazard (PH) assumption might not always be suitable in real-world applications. Motivated by physiological signals encountered in digital medicine, we develop a more general and flexible functional time-transformation model for estimating the conditional survival function with both functional and scalar covariates. A partially functional regression model is used to directly model the survival time on the covariates through an unknown monotone transformation and …
Faculty Handbook Supplement For Nursing Faculty, Saint Mary's College Of California
Faculty Handbook Supplement For Nursing Faculty, Saint Mary's College Of California
Faculty Handbook
No abstract provided.
Practicing Dentistry In The Age Of Periodontal Risk Management, Roger N. Warren D.D.S., Liana Umbrio D.D.S., Leena Palomo D.D.S., M.S.D.
Practicing Dentistry In The Age Of Periodontal Risk Management, Roger N. Warren D.D.S., Liana Umbrio D.D.S., Leena Palomo D.D.S., M.S.D.
The New York State Dental Journal
Purpose of review: To provide clinicians with knowledge of periodontal risk assessment that can be applied chairside effortlessly.
Recent findings: Detecting periodontal risk factors early may reduce the morbidity of oral and systemic diseases, as oral and systemic health can have a bidirectional relationship.
Summary: Dental professionals are equipped with evidence-based risk factors to predict and prevent the progression of periodontal disease. Implementing chairside risk assessment allows for prevention and early intervention, potentially reducing healthcare costs and promoting simpler solutions in an unpredictable economy.
Genome-Wide Association Meta-Analysis Of Human Olfactory Identification Discovers Sex-Specific And Sex-Differential Genetic Variants, Franz Förster, David Emmert, Katrin Horn, Janne Pott, Johannes Frasnelli, Mohammed Aslam Imtiaz, Konstantinos Melas, Valentina Talevi, Honglei Chen, Christoph Engel, Michele Filosi, Myriam Fornage, Martin Gögele, Markus Löffler, Thomas H Mosley, Cristian Pattaro, Peter Pramstaller, Srishti Shrestha, N Ahmad Aziz, Monique M B Breteler, Kerstin Wirkner, Markus Scholz, Christian Fuchsberger
Genome-Wide Association Meta-Analysis Of Human Olfactory Identification Discovers Sex-Specific And Sex-Differential Genetic Variants, Franz Förster, David Emmert, Katrin Horn, Janne Pott, Johannes Frasnelli, Mohammed Aslam Imtiaz, Konstantinos Melas, Valentina Talevi, Honglei Chen, Christoph Engel, Michele Filosi, Myriam Fornage, Martin Gögele, Markus Löffler, Thomas H Mosley, Cristian Pattaro, Peter Pramstaller, Srishti Shrestha, N Ahmad Aziz, Monique M B Breteler, Kerstin Wirkner, Markus Scholz, Christian Fuchsberger
Faculty, Staff and Student Publications
Smelling is a human sense, expressing strong sexual dimorphisms. We aim to improve the knowledge of the genetics of human olfactory perception by performing an exploratory genome-wide association meta-analysis of up to 21,495 individuals of European ancestry. By sex-stratified and overall analysis of the identification of twelve odours and an identification score, we discovered ten independent loci, seven of them novel, with trait-wise genome-wide significance (p < 5 × 10−8) involving five odours. Seven of these loci, including four novel ones, are also significant using a stricter study-wide significance threshold (p < 3.85 × 10−9). Loci were predominantly located within clusters of olfactory receptors. Two loci were female-specific while one was sex-differential with respective candidate genes containing androgen response elements. Two-sample Mendelian randomization was applied to search for causal relationships between sex hormones, odour identification and neurodegenerative diseases. A causal negative effect was detected for Alzheimer’s disease on the identification score. These findings deepen our understanding of the genetic basis of olfactory perception and its interaction with sex, prioritizing mechanisms for further molecular research.