Medicine and Health Sciences Commons^™

Facial Dermatosis Papulosa Nigra, A Risk For The Development Of Pterygium And Myopia: A Descriptive Cross-Sectional Study In Ghana, Du Bois Asante, Korantema M. Tsegah, Ebenezer Afrifa-Yamoah, Samuel Kyei, Dunyah J. Dzidzor, Reindolf Anokye

Research outputs 2022 to 2026

Background: Dermatosis papulosa nigra (DPN) affects sun-exposed areas such as the face, neck, and trunk. The prevalence of pterygium and myopia in DPN patients in Ghana has not been studied. In this study, we examined the risk and protective factors for pterygium and myopia in DPN patients. Materials and Methods: The study involved 100 participants with facial DPN. A standard ophthalmic exam was performed using a portable slit lamp and a 3.5 X magnified loop. Participants completed a closed-ended questionnaire. Logistic regression was used to summarize the level of association between DPN, myopia, and pterygium, as well as demographic factors …

Sugar-Sweetened Beverages Intake, Abdominal Obesity, And Inflammation Among Us Adults Without And With Prediabetes—An Nhanes Study, Wei Ting Lin, Yu Hsiang Kao, Mirandy S. Li, Ting Luo, Hui Yi Lin, Chien Hung Lee, David W. Seal, Chih Yang Hu, Lei Shih Chen, Tung-Sung Tseng

School of Public Health Faculty Publications

Excessive sugar-sweetened beverages (SSB) consumption and abdominal obesity have been independently linked to numerous disorders, including diabetes and elevated C-reactive protein (CRP). This study aimed to explore the association between SSB intake, abdominal obesity, and inflammation in normal and prediabetic adults. Sugar intake from SSBs was calculated from 24-h dietary recalls and further classified into non-, medium-, and high-intake. The status of non- and prediabetes was identified based on hemoglobin A1c level. All analyses were performed under a survey module with appropriate sampling weights to control for the complex survey design. A total of 5250 eligible adults without diabetes were …

Lifestyle Tools For Men’S Health And Disease Prevention: Well-Being Through Nutrition, Physical Activity, Stress Management, And Connection, Leigh A. Frame

Clinical Research and Leadership Faculty Publications

Mental health is an often-overlooked aspect of overall health and wellness (well-being). Mental illness is increasingly common with 1 in 5 American adults experiencing it annually, and 1 in 20 suffering from a serious mental illness each year [1]. Treatment rates for mental illness are lower in men (37.4%) compared to women (51.2%) [1]. Globally, treatment rates are similar with an estimated cost to the global economy of $1 trillion annually, yet less than 2% of government health expenditure is for mental health worldwide [2]. Despite this, only nine studies have been published specifically targeting men’s mental health through lifestyle …

The Diagnostic Performance Of Ultrasonography In The Evaluation Of Extrathyroidal Extension In Papillary Thyroid Carcinoma: A Systematic Review And Meta-Analysis, Peter P. Issa, Aaron L. Albuck, Eslam Hossam, Mohammad Hussein, Mohamed Aboueisha, Abdallah S. Attia, Mahmoud Omar, Seif Abdelrahman, Gehad Naser, Robert D.E. Clark, Eman Toraih, Emad Kandil

School of Medicine Faculty Publications

Extrathyroidal extension (ETE) in patients with papillary thyroid carcinoma (PTC) is an indication of disease progression and can influence treatment aggressiveness. This meta-analysis assesses the diagnostic accuracy of ultrasonography (US) in detecting ETE. A systematic review and meta-analysis were performed by searching PubMed, Embase, and Cochrane for studies published up to April 2022. The pooled sensitivity, specificity, and diagnostic odds ratio (DOR) were calculated. The areas under the curve (AUC) for summary receiver operating curves were compared. A total of 11 studies analyzed ETE in 3795 patients with PTC. The sensitivity of ETE detection was 76% (95%CI = 74–78%). The …

Machine Learning Of Plasma Metabolome Identifies Biomarker Panels For Metabolic Syndrome: Findings From The China Suboptimal Health Cohort, Hao Wang, Youxin Wang, Xingang Li, Xuan Deng, Yuanyuan Kong, Wei Wang, Yong Zhou

Research outputs 2022 to 2026

Background: Metabolic syndrome (MetS) has been proposed as a clinically identifiable high-risk state for the prediction and prevention of cardiovascular diseases and type 2 diabetes mellitus. As a promising “omics” technology, metabolomics provides an innovative strategy to gain a deeper understanding of the pathophysiology of MetS. The study aimed to systematically investigate the metabolic alterations in MetS and identify biomarker panels for the identification of MetS using machine learning methods. Methods: Nuclear magnetic resonance-based untargeted metabolomics analysis was performed on 1011 plasma samples (205 MetS patients and 806 healthy controls). Univariate and multivariate analyses were applied to identify metabolic biomarkers …

Progressive Acceleration Of Insulin Exposure Over 7 Days Of Infusion Set Wear, Jasmin R. Kastner, Timothy S. Bailey, Poul Strange, Leon Shi, Keith A. Oberg, Paul J. Strasma, Jeffrey I. Joseph, Douglas B. Muchmore

Department of Anesthesiology Faculty Papers

Insulin exposure varies over 3 days of insulin infusion set (IIS) wear making day-to-day insulin dosing challenging for people with diabetes (PWD). Here we report insulin pharmacodynamic (PD) and pharmacokinetic (PK) data extending these observations to 7 days of IIS wear. PWD (A1C ≤8.5%, C-peptide tmax (P < 0.001), Cmax (P < 0.05), and mean residence time (P < 0.0001). Area under the insulin concentration curve (AUC0–300) declined by ∼24% from days 0 to 7 (P < 0.05). These results confirm/extend previous observations showing progressive acceleration of insulin exposure over IIS wear time. This may have implications for PWD and designers of closed-loop algorithms, although larger studies are necessary to confirm this. The study was registered in clinicaltrials.gov (NCT04398030).

How To Manage The Initiation Of Apomorphine Therapy Without Antiemetic Pretreatment: A Review Of The Literature, Stuart H. Isaacson, Richard B. Dewey, Rajesh Pahwa, Daniel E. Kremens

Department of Neurology Faculty Papers

Introduction

Pretreatment with the antiemetic trimethobenzamide has been recommended practice in the United States (US) to address the risk of nausea and vomiting during initiation of apomorphine treatment. However, trimethobenzamide is no longer being manufactured in the US, and despite the recent update to the US prescribing information, there may be uncertainty regarding how to initiate apomorphine.

Methods

To better understand why antiemetic pretreatment was recommended and if it is necessary when initiating apomorphine therapy, we performed a literature review of subcutaneous apomorphine therapy initiation with and without antiemetic pretreatment in patients with PD.

Results

Three studies were identified as …

Relationship Of Cognition And Alzheimer’S Disease With Gastrointestinal Tract Disorders: A Large-Scale Genetic Overlap And Mendelian Randomisation Analysis, Emmanuel O. Adewuyi, Eleanor K. O’Brien, Tenielle Porter, Simon M. Laws

Research outputs 2022 to 2026

Emerging observational evidence suggests links between cognitive impairment and a range of gastrointestinal tract (GIT) disorders; however, the mechanisms underlying their relationships remain unclear. Leveraging large-scale genome-wide association studies’ summary statistics, we comprehensively assessed genetic overlap and potential causality of cognitive traits and Alzheimer’s disease (AD) with several GIT disorders. We demonstrate a strong and highly significant inverse global genetic correlation between cognitive traits and GIT disorders — peptic ulcer disease (PUD), gastritis-duodenitis, diverticulosis, irritable bowel syndrome, and gastroesophageal reflux disease (GERD), but not inflammatory bowel disease (IBD). Further analysis detects 35 significant (p < 4.37 × 10 ^{− 5}) bivariate local genetic …

Educating School Nurses To Improve Bowel Continence In Children With Spina Bifida, Mckinley J. Waugh, Tracy L. Brewer, Lisa Wagoner

Graduate Publications and Other Selected Works - Doctor of Nursing Practice (DNP)

Children born with spina bifida, a neural tube defect, can have associated loss of bowel control resulting in bowel incontinence. The National Patient Spina Bifida Registry found that 87% of those living with spina bifida had bowel incontinence, and less than 30% were bowel continent (Sawin et al., 2015; Wiener et al., 2017). Unfortunately, providers may never start a child living with spina bifida on a bowel management program. Evidence suggests that children with spina bifida should begin a bowel management program early, using a stepwise approach. School nurses, who interact with children living with spinal bifida while attending school, …

The Use Of Autologous Prp Gel For The Treatment Of Diabetic Foot Ulcers, Erin Klein, Dominic E. Paoletti

Physician Assistant Capstones, 2020-current

The purpose of this systematic literature review is to examine the efficacy of platelet rich-plasma (PRP) gel as a therapy for diabetic foot ulcers (DFUs). Infections in patients with diabetes, especially diabetic foot ulcers, are challenging to treat due to neurovascular compromise. Searches were done in PubMed utilizing the terms “diabetic foot ulcer”, “platelet rich plasma” and “autologous”. In PubMed, the following limits and terms were used: randomized control trial (RCTs), sample size greater than 30 participants, foot ulcers, and English. A meta-analysis revealed three studies meeting inclusion/exclusion criteria: Li et al, Gude et al, and Ahmed et al. The …

Il-21 Signaling Promotes The Establishment Of Kshv Infection In Human Tonsil Lymphocytes By Increasing Differentiation And Targeting Of Plasma Cells, Nedaa Alomari, Jennifer Totonchy

Pharmacy Faculty Articles and Research

Introduction: Factors influencing Kaposi’s sarcoma-associated herpesvirus (KSHV) transmission and the early stages of KSHV infection in the human immune system remain poorly characterized. KSHV is known to extensively manipulate the host immune system and the cytokine milieu, and cytokines are known to influence the progression of KSHV-associated diseases. Our previous work identified the early targeting of plasma cells for KSHV infection. In this study, we examine whether IL-21, a cytokine known to profoundly influence plasma cell fate, influences the early stages of KSHV infection in B lymphocytes.

Methods: Using our unique model of ex vivo KSHV infection in tonsil lymphocytes, …

Glucocentric Drugs In Cardiovascular Disease Protection And Heart Failure, Khawaja M. Talha, Gregg C. Fonarow, Salim S. Virani, Javed Butler

Office of the Provost

Evidence for cardiovascular outcomes with older-generation antihyperglycemic drugs in the management of type 2 diabetes is based on aggregated data from prior randomized controlled trials and observational studies that were not focused on prespecified cardiovascular end points. Newer antihyperglycemic medications have undergone a rigorous evaluation of cardiovascular outcomes through randomized controlled trials since the US Food and Drug Administration imposed a mandatory requirement for all glucose-lowering drugs in 2008. The three classes of drugs that have been most extensively studied are dipeptidyl peptidase 4 inhibitors, glucagon-like peptide 1 receptor agonists, and sodium-glucose cotransporter-2 (SGLT2) inhibitors, the latter two reporting significant …

Unfavorable Social Determinants Of Health Are Associated With Higher Burden Of Financial Toxicity Among Patients With Atherosclerotic Cardiovascular Disease In The Us: Findings From The National Health Interview Survey, Javier Valero-Elizondo, Zulqarnain Javed, Rohan Khera, Mauricio E. Tano, Ramzi Dudum, Isaac Acquah, Adnan A. Hyder, Julia Andrieni, Garima Sharma, Salim S. Virani

Office of the Provost

Background: Atherosclerotic cardiovascular disease (ASCVD) is a major cause of financial toxicity, defined as excess financial strain from healthcare, in the US. Identifying factors that put patients at greatest risk can help inform more targeted and cost-effective interventions. Specific social determinants of health (SDOH) such as income are associated with a higher risk of experiencing financial toxicity from healthcare, however, the associations between more comprehensive measures of cumulative social disadvantage and financial toxicity from healthcare are poorly understood.
Methods: Using the National Health Interview Survey (2013-17), we assessed patients with self-reported ASCVD. We identified 34 discrete SDOH items, across 6 …

The Prevalence Of Sars-Cov-2 Antibodies Within The Community Of A Private Tertiary University In The Philippines: A Serial Cross Sectional Study, Lourdes S. Tanchanco, Jenica Clarisse Y. Sy, Angel Belle C. Dy, Myla D. Levantino, Arianna Maever L. Amit, John Wong, Kirsten Angeles, John Paul Vergara

Ateneo School of Medicine and Public Health Publications

The COVID-19 pandemic has caused a public health emergency in all sectors of society, including universities and other academic institutions. This study determined the seroprevalence of SARS-CoV-2 antibodies among administrators, faculty, staff, and students of a private tertiary academic institution in the Philippines over a 7 month period. It employed a serial cross-sectional method using qualitative and quantitative COVID-19 antibody test kits. A total of 1,318 participants were tested, showing 47.80% of the study population yielding IgG antibodies to SARS-CoV-2 virus. A general increase in seroprevalence was observed from June to December 2021, which coincided with the vaccine roll-out of …

Managing Tuberculosis In Refugee Populations, Roselyn Fierkens

Senior Honors Theses

Tuberculosis (TB) is an airborne-transmitted infectious disease, responsible for more global deaths than HIV. Multidrug-resistant strains are developing, which heightens the need for swift eradication. Current data states that 71.4% of all TB cases in the United States occur in foreign-born individuals, so populations traveling from TB endemic areas are a key target population for prevention strategies. Various screening procedures exist, but no successful standard is in place. Beyond prevention and treatment strategies, adaptations to cultural communication differences are integral to successful medical interventions. This synthesis of TB pathophysiology, treatments, risk factors, and cultural considerations is intended for use in …

Survival Analysis And Prognostic Factors Of The Carcinoma Of Gallbladder, Zainab Feroz, Priyanka Gautam, Sonia Tiwari, Girish C. Shukla, Munish Kuma

Biological, Geological, and Environmental Faculty Publications

Background: The present study aims to evaluate the survival status of patients with gallbladder cancer (GBC) and explore the prognostic factors for the improvement and preventions.
Methods: The study consists of 176 patients with clinically diagnosed gallbladder cancer; the study was conducted between 2019 and 2021 registered at Kamala Nehru Memorial Cancer Hospital, Prayagraj, India. The survival rates were analyzed by the Kaplan-Meier method; survival rate difference was analyzed by log-rank test, prognosis factors; and hazard ratio for mortality outcomes was estimated using Cox regression method.
Results: The overall median survival time of patients was 5 months with the 1-year, …

Association Of Visceral Adiposity Index With Incident Nephropathy And Retinopathy: A Cohort Study In The Diabetic Population, Zhiyuan Wu, Siqi Yu, Xiaoping Kang, Yue Liu, Zongkai Xu, Zhiwei Li, Jinqi Wang, Xinlei Miao, Xiangtong Liu, Xia Li, Jingbo Zhang, Wei Wang, Lixin Tao, Xiuhua Guo

Research outputs 2022 to 2026

Background: The association between visceral adiposity index (VAI) and diabetic complications has been reported in cross-sectional studies, while the effect of VAI on complication development remains unclear. This study aims to evaluate the longitudinal association of VAI and Chinese VAI (CVAI) with the incidence of diabetic nephropathy and retinopathy using a Chinese cohort. Methods: A total of 8 948 participants with type 2 diabetes from Beijing Health Management Cohort were enrolled during 2013–2014, and followed until December 31, 2019. Nephropathy was confirmed by urine albumin/creatinine ratio and estimated glomerular filtration rate; retinopathy was diagnosed using fundus photograph. Results: The mean …

Association Of Cumulative Monocyte To High-Density Lipoprotein Ratio With The Risk Of Type 2 Diabetes: A Prospective Cohort Study, Dan Wu, Yulong Lan, Yuancheng Xu, Songna Xu, Yuejun Huang, Lois Balmer, Gehendra Maharra, Wencan Xu, Wei Wang, Shouling Wu

Research outputs 2022 to 2026

Background: Recent studies have established that monocyte-derived inflammation plays a central role in the pathogenesis of type 2 diabetes mellitus (T2DM). It is unclear whether chronic metabolic inflammation, reflected by the cumulative monocyte to high-density lipoprotein ratio (CumMHR), predisposes the general population to T2DM. Methods: This study included 40,813 participants without diabetes from a real-life, community-based cohort (the Kailuan Study) attending a 2-year cycle of health survey since 2006. Cumulative exposure was obtained from 2006/2007 to 2010/2011. Follow-up started at 2010/2011 and through 2020. Multivariable-adjusted Cox regression models were used to calculate the CumMHR-associated risk of incident T2DM. Results: Over …

Combined Evaluation Of Arterial Stiffness, Glycemic Control And Hypertension For Macrovascular Complications In Type 2 Diabetes, Zhiyuan Wu, Siqi Yu, Haiping Zhang, Zheng Guo, Yulu Zheng, Zongkai Xu, Zhiwei Li, Xiangtong Liu, Xia Li, Shuo Chen, Jingbo Zhang, Lixin Tao, Xiuhua Guo

Research outputs 2022 to 2026

Background: Arterial stiffness, glycemic control and blood pressure are risk factors of macrovascular complications in type 2 diabetes. This study aimed to investigate the combined association of arterial stiffness, glycemic control and hypertension status with the occurrence of diabetic macrovascular complication. Methods: A total of 1870 patients of diabetes were enrolled from Beijing Health Management Cohort between 2008 and 2018 as baseline, and then followed for macrovascular complication onset. We proposed a composite risk score (0 – 4) by arterial stiffness severity, pool glycemic control and hypertension status. Cox model was used to estimate the hazard ratio (HR) and 95 …

Current Insights On The Use Of Insulin And The Potential Use Of Insulin Mimetics In Targeting Insulin Signalling In Alzheimer’S Disease, Amy Woodfield, Tatiana Gonzales, Erik Helmerhorst, Simon Laws, Philip Newsholme, Tenielle Porter, Giuseppe Verdile

Research outputs 2022 to 2026

Alzheimer’s disease (AD) and type 2 diabetes (T2D) are chronic diseases that share several pathological mechanisms, including insulin resistance and impaired insulin signalling. Their shared features have prompted the evaluation of the drugs used to manage diabetes for the treatment of AD. Insulin delivery itself has been utilized, with promising effects, in improving cognition and reducing AD related neuropathology. The most recent clinical trial involving intranasal insulin reported no slowing of cognitive decline; however, several factors may have impacted the trial outcomes. Long-acting and rapid-acting insulin analogues have also been evaluated within the context of AD with a lack of …

Cost Utility Of Supporting Family-Based Care To Prevent Hiv And Deaths Among Orphaned And Separated Children In East Africa: A Markov Model–Based Simulation, Marta Wilson-Barthes, Paula Braitstein, Allison Delong, David Ayuku, Lukoye Atwoli, Edwin Sang, Omar Galárraga

Internal Medicine, East Africa

Purpose: Strengthening family-based care is a key policy response to the more than 15 million orphaned and separated children who have lost 1 or both parents in sub-Saharan Africa. This analysis estimated the cost-effectiveness of family-based care environments for preventing HIV and death in this population.

Design: We developed a time-homogeneous Markov model to simulate the incremental cost per disability-adjusted life year (DALY) averted by supporting family-based environments caring for orphaned and separated children in western Kenya. Model parameters were based on data from the longitudinal OSCAR’s Health and Well-Being Project and published literature. We used a societal perspective, …

Rapid Detection Of Recurrent Non-Muscle Invasive Bladder Cancer In Urine Using Atr-Ftir Technology, Abdullah I. El-Falouji, Dalia M. Sabri, Naira M. Lofti, Doaa M. Medany, Samar A. Mohamed, Mai Alaa-Eldin, Amr Mounir Selim, Asmaa A. El Leithy, Haitham F. Kalil, Ahmed El-Tobgy, Ahmed Mohamed

Chemistry Faculty Publications

Non-muscle Invasive Bladder Cancer (NMIBC) accounts for 80% of all bladder cancers. Although it is mostly low-grade tumors, its high recurrence rate necessitates three-times-monthly follow-ups and cystoscopy examinations to detect and prevent its progression. A rapid liquid biopsy-based assay is needed to improve detection and reduce complications from invasive cystoscopy. Here, we present a rapid spectroscopic method to detect the recurrence of NMIBC in urine. Urine samples from previously-diagnosed NMIBC patients (n = 62) were collected during their follow-up visits before cystoscopy examination. Cystoscopy results were recorded (41 cancer-free and 21 recurrence) and attenuated total refraction Fourier transform infrared (ATR-FTIR) …

Bidirectional Associations Between Daytime Napping Duration And Metabolic Syndrome: A Nationally Representative Cohort Study, Jinqi Wang, Zhiyuan Wu, Xiaohan Jin, Rui Jin, Ze Han, Haiping Zhang, Zongkai Xu, Yue Liu, Xiuhua Guo, Lixin Tao

Research outputs 2022 to 2026

Background: We aimed to examine the bidirectional associations between daytime napping duration and metabolic syndrome (MetS). Methods: Using data from the China Health and Retirement Longitudinal Study from 2011 to 2015, modified Poisson regression models were performed to explore the longitudinal associations of baseline napping duration with the occurrence and remission of MetS. Generalized estimating equation was conducted to explore the association between baseline MetS status with subsequent changes in daytime napping duration. Cross-lagged panel analysis was performed to further verify their bidirectional relationships. Results: During the four-year follow-up, among 5041 participants without MetS at baseline, extended naps were significantly …

Effectiveness Of Non-Invasive Respiratory Support Strategies In Patients With Covid-19: A Systematic Review And Meta Analysis, Vinesh Kumar, Umair Arshad Malik, Reshman Kumari, Berkha Berkha, Vijay Kumar, Manoj Kumar, Simran Simran, Suman Suman, Bushra Nasim

Medical College Documents

Background: The effectiveness of non-invasive respiratory strategies, namely CPAP and HFNO, in reducing the risk of mortality and tracheal intubation in patients with severe COVID-19 is not well established.
Methods: A thorough literature search was conducted across 3 electronic databases (Medline, EMBASE and Cochrane Central) from inception through July 2022. Randomized controlled trials (RCTs) and observational studies assessing the impact of CPAP or HFNO on clinical outcomes in patients infected with COVID-19 were considered for inclusion. End-points included all-cause mortality and risk of tracheal intubation. Evaluations were reported as risk ratios (RRs) with 95% confidence intervals (CI) and analysis was …

Immunoglobulin G N-Glycan, Inflammation And Type 2 Diabetes In East Asian And European Populations: A Mendelian Randomization Study, Biyan Wang, Di Liu, Manshu Song, Wei Wang, Bo Guo, Youxin Wang

Research outputs 2022 to 2026

Background: Immunoglobulin G (IgG) N-glycans have been shown to be associated with the risk of type 2 diabetes (T2D) and its risk factors. However, whether these associations reflect causal effects remain unclear. Furthermore, the associations of IgG N-glycans and inflammation are not fully understood. Methods: We examined the causal associations of IgG N-glycans with inflammation (C-reactive protein (CRP) and fibrinogen) and T2D using two-sample Mendelian randomization (MR) analysis in East Asian and European populations. Genetic variants from IgG N-glycan quantitative trait loci (QTL) data were used as instrumental variables. Two-sample MR was conducted for IgG N-glycans with inflammation (75,391 and …

Characterizing The Cutaneous Microbiome Of Eurycea Lucifuga As A Potential Defense Against Chytridiomycosis, Madeline Key

Senior Honors Theses

Chytridiomycosis is an emerging infectious disease that is significantly reducing global amphibian populations. The disease is caused by Batrachochytrium dendrobatidis (Bd), a fungus that lethally modifies amphibian skin. Recent research has suggested that the cutaneous microbiome of individual amphibians may play a role in susceptibility to the pathogen. In this study, twelve cave salamanders (Eurycea lucifuga) were collected. Cutaneous bacteria from each salamander were isolated and identified using Sanger Sequencing. Additionally, a Bd-challenge assay was performed to determine each isolate’s antifungal activity. Results indicated many microbial isolates possessed inhibitory capabilities against Bd, which may …

Vascular Endothelial Growth Factor And The Risk Of Venous Thromboembolism: A Genetic Correlation And Two-Sample Mendelian Randomization Study, Qiaoyun Zhang, Xiaoyu Zhang, Jie Zhang, Biyan Wang, Qiuyue Tian, Xiaoni Meng, Jinxia Zhang, Mengyang Jiang, Yiqiang Zhang, Deqiang Zheng, Lijuan Wu, Wei Wang, Baoguo Wang, Youxin Wang

Research outputs 2022 to 2026

Background: The relationship between vascular endothelial growth factor (VEGF) and the risk of venous thromboembolism (VTE) has always been one of the concerns in the medical field. However, the causal inferences from published observational studies on this issue may be affected by confounders or reverse causality. We performed a two-sample bidirectional Mendelian randomization (MR) to infer the associations between VEGF and VTE. Methods: Summary statistics from genome-wide association studies (GWAS) for VEGF and VTE were obtained from published meta-analysis studies and the FinnGen consortium, respectively. Independent genetic variables significantly associated with exposure were selected as instrumental variables. Linkage disequilibrium score …

Assessment Of A Polygenic Hazard Score For The Onset Of Pre-Clinical Alzheimer’S Disease, Michael Vacher, Vincent Doré, Tenielle Porter, Lidija Milicic, Victor L. Villemagne, Pierrick Bourgeat, Sam C. Burnham, Timothy Cox, Colin L. Masters, Christopher C. Rowe, Jurgen Fripp, James D. Doecke, Simon M. Laws

Research outputs 2022 to 2026

Background: With a growing number of loci associated with late-onset (sporadic) Alzheimer’s disease (AD), the polygenic contribution to AD is now well established. The development of polygenic risk score approaches have shown promising results for identifying individuals at higher risk of developing AD, thereby facilitating the development of preventative and therapeutic strategies. A polygenic hazard score (PHS) has been proposed to quantify age-specific genetic risk for AD. In this study, we assessed the predictive power and transferability of this PHS in an independent cohort, to support its clinical utility. Results: Using genotype and imaging data from 780 individuals enrolled in …

Comprehensive Genetic Analysis Of The Human Lipidome Identifies Loci Associated With Lipid Homeostasis With Links To Coronary Artery Disease, Gemma Cadby, Corey Giles, Phillip E. Melton, Kevin Huynh, Natalie A. Mellett, Thy Duong, Anh Nguyen, Michelle Cinel, Alex Smith, Gavriel Olshansky, Tingting Wang, Marta Brozynska, Mike Inouye, Nina S. Mccarthy, Amir Ariff, Joseph Hung, Jennie Hui, John Beilby, Marie Pierre Dubé, Gerald F. Watts, Sonia Shah, Naomi R. Wray, Wei Ling Florence Lim, Pratishtha Chatterjee, Ian Martins, Simon M. Laws, Tenielle Porter, Michael Vacher, Ashley I. Bush, Christopher C. Rowe, Victor L. Villemagne, David Ames, Colin L. Masters, Kevin Taddei, Matthias Arnold, Gabi Kastenmüller, Kwangsik Nho, Andrew J. Saykin, Xianlin Han, Rima Kaddurah-Daouk, Ralph N. Martins, John Blangero, Peter J. Meikle, Eric K. Moses

Research outputs 2022 to 2026

We integrated lipidomics and genomics to unravel the genetic architecture of lipid metabolism and identify genetic variants associated with lipid species putatively in the mechanistic pathway for coronary artery disease (CAD). We quantified 596 lipid species in serum from 4,492 individuals from the Busselton Health Study. The discovery GWAS identified 3,361 independent lipid-loci associations, involving 667 genomic regions (479 previously unreported), with validation in two independent cohorts. A meta-analysis revealed an additional 70 independent genomic regions associated with lipid species. We identified 134 lipid endophenotypes for CAD associated with 186 genomic loci. Associations between independent lipid-loci with coronary atherosclerosis were …

Genetic Liability Between Covid-19 And Heart Failure: Evidence From A Bidirectional Mendelian Randomization Study, Huachen Wang, Zheng Guo, Yulu Zheng, Bing Chen

Research outputs 2022 to 2026

Background: Previous studies have observed inconsistent associations between coronavirus disease 2019 (COVID-19) and heart failure (HF), but these studies were prone to bias based on reverse causality and residual confounding factors. We aimed to investigate genetic liability between COVID-19 and heart failure using a bidirectional Mendelian randomization study. Methods: The causal relationship between COVID-19 (including COVID-19, hospitalized COVID-19 compared with the general population, and severe COVID-19) and HF are determined by using a bidirectional Mendelian randomization analysis. We drew on summary statistics from the largest HF genome-wide association study (GWAS) meta-analysis on individuals of European ancestry, which included 47,309 HF …