Medicine and Health Sciences Commons^™

Age-Dependent White Matter Disruptions After Military Traumatic Brain Injury: Multivariate Analysis Results From Enigma Brain Injury, Heather C Bouchard, Paul M Thompson, Aristeidis Sotiras, Et Al.

2020-Current year OA Pubs

Mild Traumatic brain injury (mTBI) is a signature wound in military personnel, and repetitive mTBI has been linked to age-related neurogenerative disorders that affect white matter (WM) in the brain. However, findings of injury to specific WM tracts have been variable and inconsistent. This may be due to the heterogeneity of mechanisms, etiology, and comorbid disorders related to mTBI. Non-negative matrix factorization (NMF) is a data-driven approach that detects covarying patterns (components) within high-dimensional data. We applied NMF to diffusion imaging data from military Veterans with and without a self-reported TBI history. NMF identified 12 independent components derived from fractional …

Challenges And New Opportunities For Detecting Endogenous Opioid Peptides In Reward, Sineadh M Conway, Marwa O Mikati, Ream Al-Hasani

2020-Current year OA Pubs

The endogenous opioid peptide system, comprised of enkephalins, endorphins, dynorphins, and nociceptin, is a highly complex neurobiological system. Opioid peptides are derived from four precursor molecules and undergo several processing events yielding over 20 unique opioid peptides. This diversity together with low

Serum Cholesterol Efflux Capacity In Age-Related Macular Degeneration And Polypoidal Choroidal Vasculopathy, Yasuo Yanagi, Richard M C Yu, Waseem Ahamed, Marco Yu, Kelvin Yi Chong Teo, Anna C S Tan, Ching-Yu Cheng, Tien Yin Wong, Rajendra S Apte, Chui Ming Gemmy Cheung

2020-Current year OA Pubs

PURPOSE: To investigate serum cholesterol efflux capacity (the ability of the serum to accept cholesterol) and factors that regulate it using nuclear magnetic resonance-quantified measures of lipoprotein particle composition and size and apolipoproteins metrics in patients with age-related macular degeneration (AMD).

DESIGN: Case-control study.

PARTICIPANTS: Four hundred two serum samples from 80 patients with early AMD (eAMD), and 212 patients with neovascular AMD (nAMD), including 80 with typical nAMD (tAMD) and 132 with polypoidal choroidal vasculopathy (PCV), and 110 age- and gender matched control participants.

METHODS: Serum from participants showed cholesterol efflux capacity measured using in vitro cell assays and …

Rate Of Infarct-Edema Growth On Ct Predicts Need For Surgical Intervention And Clinical Outcome In Patients With Cerebellar Infarction, Yan Wang, Michael M Binkley, Min Qiao, Amanda Pardon, Salah Keyrouz, Rajat Dhar, Andria L Ford

2020-Current year OA Pubs

BACKGROUND: Up to 20% of patients with cerebellar infarcts will develop malignant edema and deteriorate clinically. Radiologic measures, such as initial infarct size, aid in identifying individuals at risk. Studies of anterior circulation stroke suggest that mapping early edema formation improves the ability to predict deterioration; however, the kinetics of edema in the posterior fossa have not been well characterized. We hypothesized that faster edema growth within the first hours after acute cerebellar stroke would be an indicator for individuals requiring surgical intervention and those with worse neurological outcomes.

METHODS: Consecutive patients admitted to the neurological intensive care unit with …

Management Of Diarrhea In Patients With Her2-Positive Breast Cancer Treated With Neratinib: A Case Series And Summary Of The Literature, Megan L Kruse, Irene M Kang, Nusayba A Bagegni, W Todd Howell, Halle C F Moore, Cynthia H Bedell, Christopher T Stokoe

2020-Current year OA Pubs

INTRODUCTION: Neratinib and neratinib-based combinations have demonstrated efficacy for treatment of human epidermal growth factor receptor 2-positive (HER2+) early-stage and metastatic breast cancers. However, diarrhea has been reported as a common adverse event leading to neratinib discontinuation. Results from the CONTROL trial suggest that proactive diarrhea management with antidiarrheal prophylaxis or dose escalation of neratinib from a lower starting dose to the full FDA-approved dose of 240 mg/day can reduce the incidence, duration, and severity of neratinib-associated diarrhea in patients with early-stage breast cancer. Dose escalation has been included in the FDA-approved label for both early-stage and metastatic HER2+ breast …

Intracorporeal And Extracorporeal Anastomosis For Robotic-Assisted And Laparoscopic Right Colectomy: Short-Term Outcomes Of A Multi-Center Prospective Trial, Robert K Cleary, Matthew Silviera, Et Al.

2020-Current year OA Pubs

BACKGROUND: Studies to date show contrasting conclusions when comparing intracorporeal and extracorporeal anastomoses for minimally invasive right colectomy. Large multi-center prospective studies comparing perioperative outcomes between these two techniques are needed. The purpose of this study was to compare intracorporeal and extracorporeal anastomoses outcomes for robotic assisted and laparoscopic right colectomy.

METHODS: Multi-center, prospective, observational study of patients with malignant or benign disease scheduled for laparoscopic or robotic-assisted right colectomy. Outcomes included conversion rate, gastrointestinal recovery, and complication rates.

RESULTS: There were 280 patients: 156 in the robotic assisted and laparoscopic intracorporeal anastomosis (IA) group and 124 in the robotic …

Assessing Researchers' Capabilities, Opportunities, And Motivation To Conduct Equity-Oriented Dissemination And Implementation Research, An Exploratory Cross-Sectional Study, Ana A Baumann, Eva N Woodward, Rajinder Sonia Singh, Prajakta Adsul, Rachel C Shelton

2020-Current year OA Pubs

BACKGROUND: A recent paradigm shift has led to an explicit focus on enhancing health equity through equity-oriented dissemination and implementation (D&I) research. However, the integration and bidirectional learning across these two fields is still in its infancy and siloed. This exploratory study aimed to examine participants' perceived capabilities, opportunities, and motivations to conduct equity-oriented D&I research.

METHODS: We conducted an exploratory cross-sectional survey distributed online from December 2020 to April 2021. Participants were recruited at either D&I or health disparities-oriented conferences, meetings, through social media, or personal outreach via emails. Informed by the Capability, Opportunity, and Motivation Model (COM-B), the …

Noninvasive Testing And Surrogate Markers In Invasive Fungal Diseases, George R Thompson, Andrej Spec, Et Al.

2020-Current year OA Pubs

Invasive fungal infections continue to increase as at-risk populations expand. The high associated morbidity and mortality with fungal diseases mandate the continued investigation of novel antifungal agents and diagnostic strategies that include surrogate biomarkers. Biologic markers of disease are useful prognostic indicators during clinical care, and their use in place of traditional survival end points may allow for more rapid conduct of clinical trials requiring fewer participants, decreased trial expense, and limited need for long-term follow-up. A number of fungal biomarkers have been developed and extensively evaluated in prospective clinical trials and small series. We examine the evidence for these …

Association Of The Receptor For Activated C-Kinase 1 With Ribosomes In Plasmodium Falciparum, Jessey Erath, Sergej Djuranovic

2020-Current year OA Pubs

The receptor for activated C-kinase 1 (RACK1), a highly conserved eukaryotic protein, is known to have many varying biological roles and functions. Previous work has established RACK1 as a ribosomal protein, with defined regions important for ribosome binding in eukaryotic cells. In Plasmodium falciparum, RACK1 has been shown to be required for parasite growth, however, conflicting evidence has been presented about RACK1 ribosome binding and its role in mRNA translation. Given the importance of RACK1 as a regulatory component of mRNA translation and ribosome quality control, the case could be made in parasites that RACK1 either binds or does not …

Low Housing Quality, Unmet Social Needs, Stress And Depression Among Low-Income Smokers, Rachel Garg, Amy Mcqueen, Jennifer M Wolff, Karen E Skinner, Michelle C Kegler, Matthew W Kreuter

2020-Current year OA Pubs

Smokers are at greater risk of multiple health conditions that are exacerbated by environmental hazards associated with low housing quality. However, little is known about the prevalence of low housing quality among low-income smokers. Using correlations and logistic regression, we examined associations among eight housing quality indicators - pests, water leaks, mold, lead paint, and working smoke detectors, appliances, heating, and air conditioning - and between housing quality and social needs, depressive symptoms, perceived stress, sleep problems, and self-rated health in a community-based sample of 786 low-income smokers from 6 states. Most participants were female (68%), and White (45%) or …

Genomic And Transcriptomic Somatic Alterations Of Hepatocellular Carcinoma In Non-Cirrhotic Livers, Zachary L Skidmore, Jason Kunisaki, Yiing Lin, Kelsy C Cotto, Erica K Barnell, Jasreet Hundal, Kilannin Krysiak, Vincent Magrini, Lee Trani, Jason R Walker, Robert Fulton, Elizabeth M Brunt, Christopher A Miller, Richard K Wilson, Elaine R Mardis, Malachi Griffith, William Chapman, Obi L Griffith

2020-Current year OA Pubs

No abstract provided.

Whole-Exome Sequencing Reveals Damaging Gene Variants Associated With Hypoalphalipoproteinemia, Weilai Dong, Sheng Chih Jin, Et Al.

2020-Current year OA Pubs

Low levels of high density lipoprotein-cholesterol (HDL-C) are associated with an elevated risk of arteriosclerotic coronary heart disease. Heritability of HDL-C levels is high. In this research discovery study, we used whole-exome sequencing to identify damaging gene variants that may play significant roles in determining HDL-C levels. We studied 204 individuals with a mean HDL-C level of 27.8 ± 6.4 mg/dl (range: 4-36 mg/dl). Data were analyzed by statistical gene burden testing and by filtering against candidate gene lists. We found 120 occurrences of probably damaging variants (116 heterozygous; four homozygous) among 45 of 104 recognized HDL candidate genes. Those …

Assessment Of The Impact Of The Covid-19 Pandemic On Health Services Use, Kimberly J Johnson, Charles W Goss, Jeannette Jackson Thompson, Anne M Trolard, Brett B Maricque, Victoria Anwuri, Rachel Cohen, Kate Donaldson, Elvin Geng

2020-Current year OA Pubs

OBJECTIVES: The coronavirus disease of 2019 (COVID-19) pandemic declared by the World Health Organization on March 11, 2020 impacted healthcare services with provider and patient cancellations, delays, and patient avoidance or delay of emergency department or urgent care. Limited data exist on the population proportion affected by delayed healthcare, which is important for future healthcare planning efforts. Our objective was to evaluate the impact of the COVID-19 pandemic on healthcare service cancellations or delays and delays/avoidance of emergency/urgent care overall and by population characteristics.

STUDY DESIGN: This was a cross-sectional study.

METHODS: Our sample (n = 2314) was assembled through …

Toll-Like Receptor And Cytokine Expression Throughout The Bone Marrow Differs Between Patients With Low- And High-Risk Myelodysplastic Syndromes, Luana Chiquetto Paracatu, Darlene A Monlish, Zev J Greenberg, Daniel A C Fisher, Matthew J Walter, Stephen T Oh, Laura G Schuettpelz

2020-Current year OA Pubs

Myelodysplastic syndromes (MDS) are hematopoietic stem cell disorders, the pathogenesis of which involves enhanced immune signaling that promotes or selects for mutant hematopoietic stem and progenitor cells (HSPCs). In particular, toll-like receptor (TLR) expression and signaling are enhanced in MDS, and their inhibition is an attractive therapeutic strategy. Although prior studies have reported increased expression of TLR2 and its binding partners TLR1 and TLR6 in the CD34

Real-Time Motion Monitoring Improves Functional Mri Data Quality In Infants, Carolina Badke D'Andrea, Jeanette K Kenley, David F Montez, Amy E Mirro, Ryland L Miller, Eric A Earl, Jonathan M Koller, Sooyeon Sung, Essa Yacoub, Jed T Elison, Damien A Fair, Nico U F Dosenbach, Cynthia E Rogers, Christopher D Smyser, Deanna J Greene

2020-Current year OA Pubs

Imaging the infant brain with MRI has improved our understanding of early neurodevelopment. However, head motion during MRI acquisition is detrimental to both functional and structural MRI scan quality. Though infants are typically scanned while asleep, they commonly exhibit motion during scanning causing data loss. Our group has shown that providing MRI technicians with real-time motion estimates via Framewise Integrated Real-Time MRI Monitoring (FIRMM) software helps obtain high-quality, low motion fMRI data. By estimating head motion in real time and displaying motion metrics to the MR technician during an fMRI scan, FIRMM can improve scanning efficiency. Here, we compared average …

Pilot Feasibility Study Of A Simple Regenerative Peripheral Nerve Interface Designed To Diminish Cutaneous Dysesthesia After Supraclavicular Operations, Alexander Yang, Robert W Thompson

2020-Current year OA Pubs

Supraclavicular operations can be associated with postoperative cutaneous dysesthesia and hypersensitivity. Regenerative peripheral nerve interfaces, created by attaching the proximal end of a divided peripheral nerve into a viable muscle target, can promote neurite regrowth and neuromuscular connections to help suppress painful nerve hyperactivity. During 40 consecutive operations for neurogenic thoracic outlet syndrome, we demonstrated that division of at least one of the superficial supraclavicular cutaneous sensory nerve branches was necessary in 98% of cases. We subsequently developed a novel regenerative peripheral nerve interface for supraclavicular operations using the adjacent omohyoid muscle and have described the technical steps involved in …

Synthesizing Pseudo-T2w Images To Recapture Missing Data In Neonatal Neuroimaging With Applications In Rs-Fmri, Sydney Kaplan, Dimitrios Alexopoulos, Jeanette K Kenley, Deanna M Barch, Jeffrey J Neil, Cynthia E Rogers, Aristeidis Sotiras, Christopher D Smyser, Et Al.

2020-Current year OA Pubs

T1- and T2-weighted (T1w and T2w) images are essential for tissue classification and anatomical localization in Magnetic Resonance Imaging (MRI) analyses. However, these anatomical data can be challenging to acquire in non-sedated neonatal cohorts, which are prone to high amplitude movement and display lower tissue contrast than adults. As a result, one of these modalities may be missing or of such poor quality that they cannot be used for accurate image processing, resulting in subject loss. While recent literature attempts to overcome these issues in adult populations using synthetic imaging approaches, evaluation of the efficacy of these methods in pediatric …

A Powassan Virus Domain Iii Nanoparticle Immunogen Elicits Neutralizing And Protective Antibodies In Mice, Ryan J. Malonis, George I. Georgiev, Denise Haslwanter, Laura A. Vanblargan, Georgia Fallon, Olivia Vergnolle, Sean M. Cahill, Richard Harris, David Cowburn, Kartik Chandran, Michael S Diamond, Jonathan R. Lai

2020-Current year OA Pubs

Powassan virus (POWV) is an emerging tick borne flavivirus (TBFV) that causes severe neuroinvasive disease. Currently, there are no approved treatments or vaccines to combat POWV infection. Here, we generated and characterized a nanoparticle immunogen displaying domain III (EDIII) of the POWV E glycoprotein. Immunization with POWV EDIII presented on nanoparticles resulted in significantly higher serum neutralizing titers against POWV than immunization with monomeric POWV EDIII. Furthermore, passive transfer of EDIII-reactive sera protected against POWV challenge in vivo. We isolated and characterized a panel of EDIII-specific monoclonal antibodies (mAbs) and identified several that potently inhibit POWV infection and engage distinct …

A Guide For Managing Patients With Stage I Nsclc: Deciding Between Lobectomy, Segmentectomy, Wedge, Sbrt And Ablation-Part 4: Systematic Review Of Evidence Involving Sbrt And Ablation, Henry S. Park, Frank C. Detterbeck, David C. Madoff, Brett C. Bade, Ulas Kumbasar, Vincent J. Mase, Andrew X. Li, Justin D. Blasberg, Gavitt A. Woodard, Whitney S. Brandt, Roy H. Decker

2020-Current year OA Pubs

Background: Clinical decision-making for patients with stage I lung cancer is complex. It involves multiple options [lobectomy, segmentectomy, wedge, stereotactic body radiotherapy (SBRT), thermal ablation], weighing multiple outcomes (e.g., short-, intermediate-, long-term) and multiple aspects of each (e.g., magnitude of a difference, the degree of confidence in the evidence, and the applicability to the patient and setting at hand). A structure is needed to summarize the relevant evidence for an individual patient and to identify which outcomes have the greatest impact on the decision-making.

Methods: A PubMed systematic review from 2000-2021 of outcomes after SBRT or thermal ablation

Results: Short-term …

A Guide For Managing Patients With Stage I Nsclc: Deciding Between Lobectomy, Segmentectomy, Wedge, Sbrt And Ablation-Part 2: Systematic Review Of Evidence Regarding Resection Extent In Generally Healthy Patients, Frank C. Detterbeck, Vincent J. Mase, Andrew X. Li, Ulas Kumbasar, Brett C. Bade, Henry S. Park, Roy H. Decker, David C. Madoff, Gavitt A. Woodard, Whitney S Brandt, Justin D. Blasberg

2020-Current year OA Pubs

Background: Clinical decision-making for patients with stage I lung cancer is complex. It involves multiple options (lobectomy, segmentectomy, wedge, stereotactic body radiotherapy, thermal ablation), weighing multiple outcomes (e.g., short-, intermediate-, long-term) and multiple aspects of each (e.g., magnitude of a difference, the degree of confidence in the evidence, and the applicability to the patient and setting at hand). A structure is needed to summarize the relevant evidence for an individual patient and to identify which outcomes have the greatest impact on the decision-making.

Methods: A PubMed systematic review from 2000-2021 of outcomes after lobectomy, segmentectomy and wedge resection in generally …

Care Levels For Fetal Therapy Centers, Ahmet A Baschat, Barbara B Warner, Et Al

2020-Current year OA Pubs

Fetal therapies undertaken to improve fetal outcome or to optimize transition to neonate life often entail some level of maternal, fetal, or neonatal risk. A fetal therapy center needs access to resources to carry out such therapies and to manage maternal, fetal, and neonatal complications that might arise, either related to the therapy per se or as part of the underlying fetal or maternal condition. Accordingly, a fetal therapy center requires a dedicated operational infrastructure and necessary resources to allow for appropriate oversight and monitoring of clinical performance and to facilitate multidisciplinary collaboration between the relevant specialties. Three care levels …

A Multi-Institutional Study Evaluating And Describing Atypical Parathyroid Tumors Discovered After Parathyroidectomy, Alice L Tang, Benjamin Aunins, Katherine Chang, James C Wang, Matthew Hagen, Lan Jiang, Cortney Y Lee, Reese W Randle, Jeffery J Houlton, David Sloan, David L Steward

2020-Current year OA Pubs

Objective: To describe common intraoperative and pathologic findings of atypical parathyroid tumors (APTs) and evaluate clinical outcomes in patients undergoing parathyroidectomy.

Methods: In this multi-institutional retrospective case series, data were collected from patients who underwent parathyroidectomy from 2000 to 2018 from three tertiary care institutions. APTs were defined according to the AJCC eighth edition guidelines and retrospective chart review was performed to evaluate the incidence of recurrent laryngeal nerve injury, recurrence of disease, and disease-specific mortality.

Results: Twenty-eight patients were identified with a histopathologic diagnosis of atypical tumor. Mean age was 56 years (range, 23-83) and 68% (19/28) were female. …

Translating Data Analytics Into Improved Spine Surgery Outcomes: A Roadmap For Biomedical Informatics Research In 2021, Jacob K. Greenberg, Ayodamola Otun, Zoher Ghogawala, Po-Yin Yen, Camilo A. Molina, David D. Limbrick, Randi E. Foraker, Michael P. Kelly, Wilson Z. Ray

2020-Current year OA Pubs

STUDY DESIGN: Narrative review.

OBJECTIVES: There is growing interest in the use of biomedical informatics and data analytics tools in spine surgery. Yet despite the rapid growth in research on these topics, few analytic tools have been implemented in routine spine practice. The purpose of this review is to provide a health information technology (HIT) roadmap to help translate data assets and analytics tools into measurable advances in spine surgical care.

METHODS: We conducted a narrative review of PubMed and Google Scholar to identify publications discussing data assets, analytical approaches, and implementation strategies relevant to spine surgery practice.

RESULTS: A …

Raising Anesthesiology Diversity And Antiracism: Launching A National Initiative, Matthew C. Wixson, Allison D. Mitchell, Scott D. Markowitz, Kate M. Malicke, Michael S. Avidan, George A. Mashour

2020-Current year OA Pubs

No abstract provided.

Joint Eanm, Snmmi And Iaea Enabling Guide: How To Set Up A Theranostics Centre, Ken Herrmann, Richard L Wahl, Et Al.

2020-Current year OA Pubs

The theranostics concept using the same target for both imaging and therapy dates back to the middle of the last century, when radioactive iodine was first used to treat thyroid diseases. Since then, radioiodine has become broadly established clinically for diagnostic imaging and therapy of benign and malignant thyroid disease, worldwide. However, only since the approval of SSTR2-targeting theranostics following the NETTER-1 trial in neuroendocrine tumours and the positive outcome of the VISION trial has theranostics gained substantial attention beyond nuclear medicine. The roll-out of radioligand therapy for treating a high-incidence tumour such as prostate cancer requires the expansion of …

Joint Eanm/Snmmi/Anzsnm Practice Guidelines/Procedure Standards On Recommended Use Of [18f]Fdg Pet/Ct Imaging During Immunomodulatory Treatments In Patients With Solid Tumors Version 1.0, E Lopci, R J Hicks, A Dimitrakopoulou-Strauss, L Dercle, A Iravani, R D Seban, C Sachpekidis, O Humbert, O Gheysens, A W J M Glaudemans, W Weber, R L Wahl, A M Scott, N Pandit-Taskar, N Aide

2020-Current year OA Pubs

PURPOSE: The goal of this guideline/procedure standard is to assist nuclear medicine physicians, other nuclear medicine professionals, oncologists or other medical specialists for recommended use of [

METHODS: In a cooperative effort between the EANM, the SNMMI and the ANZSNM, clinical indications, recommended imaging procedures and reporting standards have been agreed upon and summarized in this joint guideline/procedure standard.

CONCLUSIONS: The field of immuno-oncology is rapidly evolving, and this guideline/procedure standard should not be seen as definitive, but rather as a guidance document standardizing the use and interpretation of [

PREAMBLE: The European Association of Nuclear Medicine (EANM) is a …

Determination Of The Electronic Portal Imaging Device Pixel-Sensitivity-Map For Quality Assurance Applications. Part 2: Photon Beam Dependence, Michael Paul Barnes, Baozhou Sun, Brad Michael Oborn, Bishnu Lamichhane, Stuart Szwec, Matthew Schmidt, Bin Cai, Frederick Menk, Peter Greer

2020-Current year OA Pubs

PURPOSE: The EPID PSM is a useful EPID calibration method for QA applications. The dependence of the EPID PSM on the photon beam used to acquire it has been investigated in this study for the four available PSM methods. The aim is to inform upon the viability of applying a single PSM for all available photon beams to simplify PSM implementation and maintenance.

METHODS: Four methods of PSM determination were each measured once in a single session on a single TrueBeam ® STx linac using 6 MV, 10 MV, 6 MV Flattening-Filter-Free (FFF), and 10 MV FFF photon beams. The …

Covid-19 Outcomes And Vaccination In People With Relapsing Multiple Sclerosis Treated With Ofatumumab, Anne H Cross, Et Al.

2020-Current year OA Pubs

INTRODUCTION: The SARS-CoV-2 pandemic necessitated better understanding of the impact of disease-modifying therapies on COVID-19 outcomes and vaccination. We report characteristics of COVID-19 cases and vaccination status in ofatumumab-treated relapsing multiple sclerosis (RMS) patients.

METHODS: COVID-19 data analyzed were from the ongoing, open-label, long-term extension phase 3b ALITHIOS study from December 2019 (pandemic start) and post-marketing cases from August 2020 (ofatumumab first approval) up to 25 September 2021. COVID-19 cases, severity, seriousness, outcomes, vaccination status, and breakthrough infection were evaluated.

RESULTS: As of 25 September 2021, 245 of 1703 patients (14.4%) enrolled in ALITHIOS receiving ofatumumab (median exposure: 2.45 years) …

Association Of State Medicaid Expansion Status With Rates Of Suicide Among Us Adults, Hetal Patel, Justin Barnes, Nosayaba Osazuwa-Peters, Laura Jean Bierut

2020-Current year OA Pubs

Importance: In the US, suicide is the 10th leading cause of death and a serious mental health emergency. National programs that address suicide list access to mental health care as key in prevention, and more large-scale policies are needed to improve access to mental health care and address this crisis. The Patient Protection and Affordable Care Act (ACA) Medicaid Expansion Program was implemented in several states with the goal of increasing access to the health care system.

Objective: To compare changes in suicide rates in states that expanded Medicaid under the ACA vs states that did not.

Design, Setting, and …

Gene-Lifestyle Interactions In The Genomics Of Human Complex Traits, Vincent Laville, Yun J Sung, Karen Schwander, Mary F Feitosa, Aldi T Kraja, Mike Province, C Charles Gu, D C Rao, Et Al

2020-Current year OA Pubs

The role and biological significance of gene-environment interactions in human traits and diseases remain poorly understood. To address these questions, the CHARGE Gene-Lifestyle Interactions Working Group conducted series of genome-wide interaction studies (GWIS) involving up to 610,475 individuals across four ancestries for three lipids and four blood pressure traits, while accounting for interaction effects with drinking and smoking exposures. Here we used GWIS summary statistics from these studies to decipher potential differences in genetic associations and G×E interactions across phenotype-exposure-ancestry combinations, and to derive insights on the potential mechanistic underlying G×E through in-silico functional analyses. Our analyses show first that …