Medicine and Health Sciences Commons^™

Oral Pcsk9 Inhibitor Enlicitide Versus Oral Nonstatin Therapies: A Phase 3 Randomized Clinical Trial, Alberico L Catapano, Elina Mikhailova, Ann Marie Navar, Puja Banka, Pablo Corral, Manish Saxena, P Gabriel Steg, Subodh Verma, Andrew Yacoub Kordahi, Geraldine Mendizabal, Pengfei Zhu, Christie M Ballantyne, Coralreef Addon Investigators

Faculty, Staff and Students Publications

Background: Many adults fail to achieve guideline-directed low-density lipoprotein cholesterol (LDL-C) goals on statin monotherapy, requiring additional nonstatin lipid-lowering medication. Enlicitide, an oral proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitor, lowered LDL-C by 60% compared with placebo; its efficacy compared with other oral nonstatin therapies has yet to be examined.

Objectives: This study assessed the efficacy of enlicitide, a novel oral PCSK9 inhibitor, vs other oral nonstatin therapies.

Methods: In this phase 3, randomized, double-blind, active-comparator trial, statin-treated adults aged ≥18 years with LDL-C ≥55 mg/dL and a previous major atherosclerotic cardiovascular disease (ASCVD) event, or LDL-C ≥70 mg/dL if at …

The Relationship Between Smartphone Screen Time Duration And Individual Chronotype: A Systematic Literature Review, Diego Sergio Giasia Lumbantobing, Thalia Altamilano Pramudya

Jurnal Epidemiologi Kesehatan Indonesia

The rapid increase in smartphone use over the past decade led to prolonged screen time across age groups, particularly during nighttime hours. Exposure to artificial light and pre-sleep digital activities was associated with circadian rhythm disruption and alterations in individual chronotype. This systematic literature review aimed to synthesize empirical evidence on the relationship between smartphone screen time duration and individual chronotype across all age groups and to identify key moderating factors influencing this association. The review was conducted in accordance with PRISMA 2020 guidelines. Literature searches were performed in PubMed, Scopus, and ScienceDirect for studies published between 2015 and 2025. …

Prevalence And Determinant Factors Of Depression Among Pregnant Women In Poned Health Center In Tangerang City Area, Dian Geumala Hayati, Sudijanto Kamso, Popy Yuniar, Yuli Puspita Devi

Jurnal Epidemiologi Kesehatan Indonesia

According to World Health Organization (WHO), approximately 10% of pregnant women experience mental disorders, with depression being particularly prevalent. In developing countries, this rate is was even higher, reaching 19.8% after childbirth and 15.6% during pregnancy. Various studies conducted in Indonesia show that the prevalence of depression among pregnant women ranges widely, from 21.4% to 26.2%.This study aimed to determine the prevalence and risk factors associated with depression during pregnancy in pregnant women at the PONED Community Health Center in Tangerang City Area. A facility-based cross-sectional study was conducted with 105 pregnant women attending antenatal check-ups at the 17 PONED …

Response To Letter: Assessment Of Postoperative Range Of Motion In Pediatric Patients Undergoing Surgical Reduction And Fixation Of Lateral Condyle Fractures, Gabrielle Rogie, Timothy Borden, Lindsay Crawford, Surya Mundluru, Brennan Roper, Rohini Mahajan Vanodia, Shiraz Younas

Faculty, Staff and Student Publications

No abstract provided.

Cilia Dynamics In Primary Ciliary Dyskinesia: A Biophysical Characterization Of The Rsph4a Founder Variant, Gabriel Rosario-Ortiz, José Muñiz-Hernández, Natalia M Ortiz-Pérez, Marcos J Ramos-Benitez, Ricardo A Mosquera, Wilfredo De Jesús-Rojas

Faculty, Staff and Student Publications

Primary ciliary dyskinesia (PCD) is a rare ciliopathy resulting in chronic oto-sino-pulmonary disease. PCD diagnosis can be achieved by a combination of different diagnostic and adjuvant tools, including high-speed video-microscopy analysis (HSVA). A founder variant has been described in Puerto Rico as the most common cause of PCD in the island. Background/Objectives: In HSVA, objective parameters such as ciliary beat frequency (CBF) and subjective parameters such as ciliary beat pattern (CBP) shed light on the biophysical properties of cilia. However, the subjective nature of CBP creates a gap in knowledge; characteristics such as the length, angle, and bending index of …

Nano Zinc Oxide Against Bacteria Isolated From Burn Infection, Mohammed Jaafar Al-Anssari, Mohammed Sahib Al-Hamami, Hayder Razzaq Al-Ameedee, Rabab Abdul Razzaq Kasema, Hawraa Majid Mahdi

Al-Bahir

Pseudomonas aeruginosa is a type of bacteria that is found commonly in the environment, like in soil and in water. This bacteria can cause infections in the blood, lungs (pneumonia), or other parts of the body after surgery. These bacteria are constantly finding new ways to avoid the effects of the antibiotics used to treat the infections they cause. Zinc oxide nanoparticles' (ZnO-NPs') or Nano zinc oxide antibacterial properties have drawn a lot of attention from around the world, especially since nanotechnology has been used to create particles in the nanometer range. Because of their larger specific surface area and …

An Atlas Of Genetic Effects On The Monocyte Methylome Across European And African Populations, Wanheng Zhang, Chuan Qiu, Xiao Zhang, Zichen Zhang, Kuan-Jui Su, Zhe Luo, Minghui Liu, Bingxin Zhao, Lang Wu, Qing Tian, Hui Shen, Chong Wu, Hong-Wen Deng

Faculty, Staff and Student Publications

No abstract provided.

Perinatal Obsessive-Compulsive Symptoms And Maternal-Infant Bonding: A Longitudinal Examination Of Depression And Relationship Quality, Journa Njoh, Jonathan S Abramowitz, Rashelle Musci, Mary C Kimmel, Lauren M Osborne, Jack Samuels, Paul Nestadt, Gerald Nestadt, Eric A Storch

Faculty, Staff and Students Publications

Background

Perinatal obsessive–compulsive (OC) symptoms are common and distressing, yet their impact on early parenting outcomes such as maternal-infant bonding remains poorly understood. Although prior research links maternal depression and anxiety to bonding difficulties, less is known about how perinatal OC symptoms relate to maternal-infant bonding over time, or the extent to which maternal-partner relationship quality is associated with these outcomes, and whether depressive symptoms explain observed associations.

Methods

Data were drawn from a longitudinal study of 256 pregnant women recruited from two U.S. sites between 2020 and 2023. Participants completed self-report and clinician-administered assessments at 20 weeks (PGWK20), 34 …

Letter To The Editor: Evidence For A Two-Step Species-Level Pulmonary Nocardiosis Diagnostic Approach, John Halphen, Mohadese Ahmadzade, Babith Mankidy, Ashkan Berenji, Mohammad Ghasemi-Rad

Faculty, Staff and Students Publications

Pulmonary nocardiosis, a rare and diagnostically challenging infection, usually presents with heterogeneous radiographic findings, compounded by the low sensitivity of traditional confirmatory cultures. In their most recent work, Wang et al analyzed 102 patients with pulmonary nocardiosis to address these concerns, investigating species-characteristic imaging patterns, pathological associations, and the role of metagenomic next-generation sequencing (mNGS) in the diagnostic approach. High-resolution computed tomography (CT) in adult patients with pulmonary infections caused by Nocardia wallacei was demonstrated to have a sensitive (85.71%) and specific (83.34%) presentation of bronchopneumonia in relation to the five Nocardia species in the sample with CT data. The …

The Hexosamine Biosynthetic Pathway Alters The Cytoskeleton To Modulate Cell Proliferation And Migration In Aggressive Prostate Cancer, Rajina Shakya, Praveen Suraneni, Amit Rahi, Michael Y Young, Emily Cousino, Christine B Magdongon, Raju Gajjela, Basil B Mattamana, Alexander Zaslavsky, Ganesh S Palapattu, Arun Sreekumar, Dileep Varma

Faculty, Staff and Students Publications

Castration-resistant prostate cancer (CRPC) progresses despite androgen deprivation therapy, as cancer cells adapt to grow without testosterone, becoming more aggressive and prone to metastasis. CRPC biology complicates the development of effective therapies, posing challenges for patient care. Recent gene-expression and metabolomics studies highlight the Hexosamine Biosynthetic Pathway (HBP) as a critical player, with key components like GNPNAT1 (Glucosamine-phosphate N-acetyltransferase 1) being downregulated in CRPC. GNPNAT1 knockdown in pre-clinical models has been shown to increase growth and metastasis in CRPC tumors, though the mechanisms remain unclear.To investigate the cellular basis of these CRPC phenotypes, we generated a CRISPR-Cas9 knockout model of …

Influenza Infection Has Higher Risk Of Postoperative Complications Than Covid-19 In Shoulder Arthroplasty Patients, Jad J Lawand, Umar Ghilzai, Caleb Witsken, Dion Birhiray, Abdullah Ghali, Youssef M Khalafallah, Rohan G Reddy, Sameer R Khawaja, Adil Shahzad Ahmed

Faculty, Staff and Students Publications

INTRODUCTION: The COVID-19 pandemic has captured the attention of healthcare systems worldwide, and testing remains a mainstay of preoperative testing before all surgical procedures, including shoulder arthroplasty. Other viral illnesses, specifically influenza, while still having severe complications, are either overshadowed by testing for COVID-19 or not tested at all.

METHODS: A multi-institutional cohort study using the TriNetX network examined patients undergoing total or hemi shoulder arthroplasty from January 2020 to March 2024. Matched cohorts were created: one with influenza and one with COVID-19 infection, 14 days before surgery.

RESULTS: A total of 3233 and 18,209 patients were included in the …

Incidence Of High Volume Residual Gastric Content In Perioperative Patients Taking Glucagon-Like Peptide-1 Receptor Agonists, And Its Dependence On The Duration Of Preoperative Fasting And Drug Holding: A Prospective Observational Study, Marissa Huggins, Ion Hobai

Cumberland Medica

Background: Glucagon-like peptide-1 receptor agonists (GLP-1RAs), including semaglutide and dulaglutide, are increasingly prescribed for type 2 diabetes mellitus and obesity. These agents delay gastric emptying and have been associated with a higher incidence of unexpected full stomachs in procedural patients. To prevent pulmonary aspiration, current recommendations include extending preoperative fasting (e.g., 24 hours instead of the standard 8 hours) and/or withholding the GLP-1RA medication before surgery (≥1 drug half-lives). However, the efficacy of these strategies have remained unclear and are evaluated in this study.

Hypothesis: GLP-1RA use in surgical patients is associated with increased incidence and volume of residual gastric …

Assessment Of Routine, On-Demand Electroencephalograms For Seizure Detection In The Intensive Care Unit Of A Major Saudi Tertiary Center, Abdulrahman Yousef Aldayel, Homoud Alsahli, Rawabi Alhathlool, Afag Osman, Sonia Khan, Mohammed T. Alshahrani

Neurosciences

Objectives: To investigate the occurrence and characteristics of seizures using routine electroencephalograms (EEGs) in intensive care unit (ICU) patients.

Methods: We conducted a retrospective analysis on routine, portable EEGs of 188 adult ICU patients (53% male) in a large tertiary hospital in Riyadh, Kingdom of Saudi Arabia. We compared variables of interest using a t-test and chi-squared analyses and explored significant associations using binary logistic regression analysis.

Results: We found significant associations between the occurrence of seizures on EEGs and several variables, including patient age, ICU admission due to status epilepticus, history of epilepsy or previous neurosurgical procedure, coma state, …

Impact Of Burnout And Sleep Deprivation On The Clinical Performance Of Neurology Residents: A Cross-Sectional Country Wide Study, Bandar N. Aljafen, Walaa S. Alkhamis, Rahmah M. Alsawad, Israa B. Alhamoud, Zahra B. Alamer, Waad A. Alshanqiti, Rawan M. Alenez

Neurosciences

Objective: To assess burnout (BU) and sleep deprivation (SD) among neurology residents and their impact on clinical performance (CP). This study is based on a neurology residents from Saudi Arabia.

Methods: This multi-centric, cross-sectional study invited 214 registered neurology residents in the country; 179 participated in the study. The Maslach Burnout Inventory (MBI), the Pittsburgh Sleep Quality Index (PSQI), and the Medical Council of Canada’s Physicians’ Self-Assessment Questionnaire (PSAQ) were used to evaluate burnout (BU) and sleep deprivation (SD) among neurology residents and their impact on clinical performance (CP).

Results: Of the total 214 registered neurology residents, 179 participated in …

Predictors Of Long-Term Outcome And Recurrence Of Intramedullary Spinal Ependymomas: A Multicenter Study, Reem Albuhairan, Laila Alqahtani, Ahmed Gamal Sayed, Ali Alkhaibary, Sami Khairy, Faisal Farash, Ali H. Alassiri, Ahmed Alkhani

Neurosciences

Objectives: To define prognostic factors that affect clinical outcome of patients after surgical resection of spinal intramedullary ependymoma.

Methods: A retrospective multi-center study, including all cases operated on from 2007 through 2024 at 3 institutes. Data on surgical factors included: resection extent, intraoperative neurophysiology monitoring methods, and intraoperative/postoperative complications.

Results: A total of 19 patients were included with a mean age of 37.8 years (SD = 13.2, range 8–57 years). The majority of ependymomas (n = 14, 73.7%) were in the cervical region. The most common presenting symptoms included pain in 14 patients (73.7%), sensory deficits in 11 patients (57.8%), …

Identifying Risk Factors For The Rising Prevalence Of Multiple Sclerosis In Saudi Arabia: A Case-Control Analysis, Omar Babateen, Jamil Adnan Samkari, Rewaa Abdulaziz Alkaki, Sadin Ayman Alamri, Manal Mutlaq Alzahrani, Mussaed Saleh Alharbi, Ali Abdulrazaq Alghamdi, Amwaj Sultan Aljurays, Amjad Faleh Aldosari, Seraj Makkawi

Neurosciences

Objective: This study aims to identify risk factors linked to the increasing prevalence of multiple sclerosis (MS) in Saudi Arabia. Multiple sclerosis is a chronic autoimmune condition affecting the central nervous system, marked by inflammation and damage to nerves and the myelin sheath.

Method: A case-control study conducted from September 2022 to January 2024 included 832 participants—263 diagnosed with MS and 569 controls. Controls were matched by age, gender, residence, and employment status. Data was collected using a validated questionnaire, with written consent obtained from participants aged 18 and older. Logistic regression analysis was used to ascertain risk factors.

Results: …

Efficacy Of Erenumab In Patients With Treatment-Resistant Chronic Migraine And Medication Overuse Headache, Mohamed F. Binfalah, Anwar A. Alrayyes, Hussein H. Alhafnawi, Moiz O. Bakhiet

Neurosciences

Objective: To evaluate the efficacy and safety of erenumab, a monoclonal antibody that targets the calcitonin gene-related peptide (CGRP) receptor, in patients with treatment-resistant chronic migraine and medication overuse headache.

Methods: A single-center, retrospective observational study conducted at University Medical Center on 73 patients with both medication-overuse headache and treatment-resistant chronic migraine who failed at least three oral preventive medications and/or botulinum toxin injections. Clinical data were extracted from the medical records and patient interviews. The patients received monthly erenumab injections 70 mg. Key outcomes included monthly migraine days, headache severity (visual analog scale [VAS]), headache impact test (HIT-6), acute …

Association Between Extracranial Artery Stenosis And Cerebral Small-Vessel Disease In Patients With Ischemic Stroke, Ahmad Ghoochani-Khorasani, Seyed Hadi Aghili, Seyed Zakaria Hosseini, Seyed Amir Hasan Habibi, Mehri Farhangranjbar, Mahdi Abdi

Neurosciences

Objective: To review the relationship between extracranial artery stenosis (ECAS) severity and total cerebral small-vessel disease (CSVD) burden and evaluated 5-year mortality, disability, and stroke recurrence in ischemic stroke patients. Cerebral small-vessel disease and ECAS often share risk factors such as hypertension and atherosclerosis and coexist in ischemic stroke. Although ECAS affects large-artery disease, its impact on total CSVD burden on MRI and subsequent clinical outcomes is not well defined.

Methods: We retrospectively reviewed the medical records of 348 patients older than 35 who had suffered acute ischemic stroke and were admitted to selected hospitals in Tehran, Iran from March …

Vagal Nerve Stimulation As Therapy For Drug-Resistant Epilepsy: A Tertiary Hospital Experience Of Outcomes And Efficacy In King Abdullah Medical City, Bassam G. Sef, Abeer S. Albalawi, Ahmed M. Alhajji, Muhammed M. Irfan, Hanadi M. Abu Alela

Neurosciences

Objective: To determine the efficacy and safety of vagus nerve stimulation (VNS) for reducing the frequency of seizures and complications in drug-resistant epilepsy.

Methods: This was a retrospective case series study conducted in King Abdullah Medical City from January 2015 to December 2021 hospital record. All patients undergoing VNS were enrolled according to inclusion and exclusion criteria. Patients were followed up for 12 months, and the seizure frequency and number of epileptic drugs used were evaluated. A paired sample t-test was applied to compare the outcome variables considering p-value < 0.05 as significant.

Results: Among 9 enrolled patients, four were females, and five …

Insights Into Stroke Risk And Prediction For Underweight Individuals, Saeed Awad M. Alqahtani, Moutasem S. Aboonq

Neurosciences

This review explores the relationship between underweight status and stroke risk and outcomes. Although the impact of obesity on stroke is well-documented, the harmful effects of being underweight are often overlooked. Drawing on evidence from observational studies, case-control studies, and meta-analyses, this review highlights that underweight individuals face increased mortality, poorer functional recovery, and higher rates of major adverse cardiovascular events and recurrent strokes post-stroke. Challenges in stroke prediction for this population are examined, including the limited research focus, shortcomings of existing risk assessment tools such as the CHA₂DS₂-VASc score, and population-specific factors affecting underweight prevalence …

Key Attributes Of An Ideal Neurology Residency Candidate: Program Directors’ Perspectives, Bandar N. Aljafen, Ruwa A. Alneseyan, Rahmah M. Alsawad, Mohamed Bahr

Neurosciences

Objectives: To guide medical students and interns interested in neurology by identifying the key attributes of an ideal neurology candidate from the perspectives of neurology program directors (PDs).

Methods: In this cross-sectional study, former and current neurology PDs were contacted across Saudi Arabia to complete a self-administered survey sent via email or text. The survey included seven questions: six on PD demographics and a seventh with 51 items evaluating candidate attributes on a 7-point Likert scale from disadvantage to advantage.

Results: Thirty-two neurology PDs filled out the questionnaire. Among the key attributes PDs prioritized in a candidate is their letter …

Novel Enpp1 Gene Mutation Causing Generalized Arterial Calcification Of Infancy: A Case Report, Haifa M. Alturki, Haya S. Alfaris, Mohammed A. Al-Owain, Musaad F. Abukhalid

Neurosciences

Generalized Arterial Calcification of Infancy (GACI), a complex disorder affecting multiple systems, stems from an autosomal recessive mutation in the ENPP1 gene. This condition is marked by arterial stenosis and usually manifests prenatally or in the initial months following birth. High mortality rates characterize the first few months, a phase often termed the ``critical period.'' The report presents a case study of a four-year-old female with a new mutation in the ENPP1 gene, which broadens our understanding of this rare genetic disorder.

Deprescribing Following Access To Lifestyle Treatment: A Retrospective Chart Review Of Primary Care Outcomes In Patients With Type 2 Diabetes, Yoav Jacob, Kara L Staffier, Samveda Menon, Puja B Gandhi, Joeita F Macfield, Gia Merlo, Stefanie M Meyer, Shivani S Patel, Caroline Rhéaume, Madeline Watson, David Donohue, Wayne S Dysinger, Micaela C Karlsen

Faculty, Staff and Student Publications

Background: Among individuals with type 2 diabetes (T2D), lifestyle improvements can restore glycemic control, yet few studies have examined deprescribing in settings where it was necessitated by improvements in health. This study aimed to (1) identify instances of medication deprescribing among adults with T2D in a primary care setting where patients had access to lifestyle medicine (LM), (2) document lifestyle changes among deprescribed patients, (3) assess changes in body mass index (BMI), glucose, and hemoglobin A1c (HbA1c) following deprescribing, and (4) assess the safety of deprescribing in the context of LM-informed care by identifying adverse events.

Methods: A …

Functional And Structural Basis Of A Hypermorphic Trpc3 Variant, Briar Bell, Angela M Jaramillo-Granada, Luis O Romero, Irene A Gutierrez, Venkata K P S Mallampalli, Guizhen Fan, Sameer Varma, Matthew L Baker, Irina I Serysheva, Valeria Vásquez, Julio F Cordero-Morales

Faculty, Staff and Student Publications

Cerebellar ataxias are characterized by impaired motor coordination resulting from neuronal dysfunction within the cerebellum. The mechanisms underlying this pathology and its cerebellar-specific neurodegeneration remain unknown. We uncover how a gain-of-function canonical transient receptor potential member 3 (TRPC3) mutation, coupled with a cerebellum-specific isoform, stabilizes the channel’s open state, resists the leading inhibitor Pyr3, and drives calcium-dependent cell death. Restoring calcium homeostasis by expressing a Purkinje cell calcium pump improves cell viability. Transgenic expression of the TRPC3 hypermorphic variant in Caenorhabditis elegans induces neurodegeneration, confirming its pathogenicity across species. Cryo–electron microscopy and molecular simulations reveal the structural basis for the …

Social Isolation And Firearm Secure Storage In The Usa: Results From The 2022 Brfss, Alexander Testa, Daniel Semenza, Dylan B Jackson, Karyn Fu, Sandra Mckay, Kyle T Ganson, Jason M Nagata, Jack Tsai

Faculty, Staff and Student Publications

Background: Firearm secure storage (ie, storing firearms unloaded and locked) is recommended to reduce unintentional injuries and suicides. However, the relationship between psychological states, such as social isolation, and firearm secure storage practices is under-researched.

Methods: Data are from 7136 individuals with firearms in their households from the 2022 Behavioral Risk Factor Surveillance System. Multinomial logistic regression was used to explore the relationship between social isolation and firearm storage.

Results: Among respondents, 71.6% reported storing firearms unloaded, 14.2% stored firearms loaded and locked and 14.2% stored firearms loaded and unlocked. Most respondents reported feeling 'never' (40.7%) or 'rarely' (33.3%) socially …

Mouse White Matter Matters: Cortical Origins And Spatial Organization Of Mouse White Matter Tracts, Sofia D Gordeev, Melissa Franch, Sarah R Heilbronner

Faculty, Staff and Students Publications

White matter—the fundamental structure underlying network connectivity—lies at the heart of the brain’s computational power. White matter is organized into fiber tracts, or bundles, in both human and nonhuman primate brains. These bundles consist of long-range axonal projections with a set of shared origin and termination points and exhibit a predictable organization. However, the organization of white matter in the mouse brain remains relatively unknown. This knowledge gap is surprising given the central role of mice in neuroscience, with mouse brains serving as the dominant model for transgenics, in vivo calcium imaging, and circuit manipulation. To address this gap, we …

3'Utr Mapping Reveals Alternative Polyadenylation In Right Ventricular Failure, Rahul Neupane, Kartiga Natarajan, Erik E Suarez, Henry J Pownall, Kai-Lieh Huang, Eric J Wagner, Ajay Kumar Verma, Rambabu Majji, Hari Krishna Yalamanchili, Ashrith Guha, Rajarajan A Thandavarayan

Children’s Nutrition Research Center Staff Publications

No abstract provided.

Nerandomilast In Progressive Pulmonary Fibrosis: Data From The Whole Follow-Up Period Of The Fibroneer-Ild Trial, Marlies S Wijsenbeek, Shervin Assassi, Arata Azuma, Vincent Cottin, Anna-Maria Hoffmann-Vold, Toby M Maher, Fernando J Martinez, Justin M Oldham, Luca Richeldi, Claudia Valenzuela, Hui Gu, Ivana Ritter, Susanne Stowasser, Michael Kreuter

Faculty, Staff and Student Publications

Background: In the FIBRONEER-ILD trial in patients with progressive pulmonary fibrosis (PPF), nerandomilast 9 mg bid and 18 mg bid reduced the decline in forced vital capacity at week 52 compared with placebo (the primary endpoint). We assessed the effects of nerandomilast up to the final database lock.

Methods: Time to first acute exacerbation of ILD, hospitalisation for respiratory cause, or death (key secondary endpoint) and other time-to-event endpoints were assessed.

Results: 1176 patients, of whom 512 were taking background nintedanib, received nerandomilast or placebo. At final database lock, mean (sd) exposure to trial medication was 15.1 (5.7) months and …

The Development Of A Framework To Classify Medication Deprescribing Among Patients With Type 2 Diabetes In Primary Care Practices, Puja B Gandhi, Yoav Jacob, Joeita F Macfield, Gia Merlo, Stefanie M Meyer, Shivani S Patel, Caroline Rhéaume, Kara L Staffier, Madeline Watson, Micaela C Karlsen

Faculty, Staff and Student Publications

No abstract provided.

An Integrated Germline And Somatic Genomic Model For Coronary Artery Disease, Xiong Yang, Min Seo Kim, Xinyu Zhu, Md Mesbah Uddin, Tetsushi Nakao, So Mi Jemma Cho, Satoshi Koyama, Tingfeng Xu, Laurens F Reeskamp, Rufan Zhang, Zhaoqi Liu, Yunga A, Paul S De Vries, Ramachandran S Vasan, Eric Boerwinkle, Alanna C Morrison, Bruce M Psaty, Russell P Tracy, Susan R Heckbert, Michael H Cho, Jeong H Yun, Nicholette D Palmer, Donald W Bowden, Joanne M Murabito, Daniel Levy, Nancy L Heard-Costa, George T O'Connor, Lewis C Becker, Brian G Kral, Lisa R Yanek, Laura M Raffield, Bertha Hidalgo, Jerome I Rotter, Stephen S Rich, Kent D Taylor, Wendy S Post, Charles Kooperberg, Alexander P Reiner, Braxton D Mitchell, Sharon L R Kardia, Jennifer A Smith, Patricia A Peyser, Lawrence F Bielak, Dong Keon Yon, Hong-Hee Won, Donna K Arnett, Albert V Smith, Stacey B Gabriel, Patrick T Ellinor, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Pradeep Natarajan, Minxian Wang, Akl C Fahed

Faculty, Staff and Student Publications

Multiple germline and somatic genomic factors are associated with risk of coronary artery disease, but there is no single measure of risk that integrates all information from a DNA sample. To address this gap, we develop an integrated genomic model that includes six germline and somatic genetic drivers for coronary artery disease, including polygenic risk score, genetically-proxied proteomic/metabolomic risk scores, and clonal hematopoiesis of indeterminate potential. We evaluated its predictive power in the UK Biobank (N = 391,536), and validate it using data from the TOPMed program (N = 34,177). The 10-year coronary artery disease risk based on the integrated …