Medicine and Health Sciences Commons^™

Oral Hygiene Practices, Treatment Needs And Barriers To Dental Care Among Adolescents Attending Special Education Schools In Shah Alam, Selangor, Malaysia, Nur Hafizah Nor Wira, Noraida Mamat, Maryani Mohamed Rohani, Aimi Kamarudin, Sofia Anis

Journal of Dentistry Indonesia

Objective: This study aimed to evaluate the oral health practices, status, and treatment requirements of adolescents with special healthcare needs attending special education schools in Selangor, Malaysia. The adolescents’ parents perceived challenges to oral healthcare were also established. Methods: The current study employed a cross-sectional approach involving 131 adolescents with varying special needs. The participants were between 13 and 18 years old and fulfilled the pre-determined inclusion criteria. The participants’ parents supplied information on sociodemographic, oral health practices, and possible obstacles to dental care through an online survey form. The oral examination on decay, missing, and filled teeth (DMFT), simplified …

Cooling Protocols Impact On Nickel-Titanium Rotary Instruments Cyclic Fatigue Resistance Under Extreme Curvatures And Sodium Hypochlorite, Palak Ravjibhai Ranparia, Chintan Joshi, Mona Somani, Aashray Patel, Urooj Desai, Janki Prajapati

Journal of Dentistry Indonesia

Objective: In this work, Hyflex CM, TruNatomy, and Plex V heat-treated nickel titanium rotary instruments were evaluated at body temperature (36 °C ± 1 °C) with and without a cooling protocol to assess the cyclic fatigue resistance. Methods: A 90° curved stainless-steel block was used for cyclic fatigue tests on 60 randomly selected rotary instruments, divided into two groups of 30: body temperature (n = 10) and body temperature with cooling (n = 10). Instruments were further subdivided into 6 groups of 3 different instruments. Cooling protocol group instruments received 5-second spray cooling every 30 seconds, along with continuous 5% …

Development And Comparative Evaluation Of A Novel Aloe Vera–Vinegar Gel As A Sustainable Histological Slide Coating Agent, Jayagopi Deepasakthi, Palati Sinduja

Journal of Dentistry Indonesia

Objective: Reliable tissue adhesion to glass slides is critical for accurate histological evaluation. Egg albumen, a commonly used coating agent, often results in background staining and inconsistent performance. Aloe vera, known for its biocompatibility and adhesive properties, presents a sustainable alternative. This study aimed to develop a novel aloe vera–vinegar gel formulation and compare its slide-coating performance with that of traditional egg albumen. Methods: Fresh Aloe vera gel was extracted and combined with nonfruit vinegar, filtered, and refrigerated. Thirty paraffin-embedded tissue sections were divided into two groups: one coated with aloe vera–vinegar gel and the other coated …

Positive And Negative Personality Traits In Relation To Oral Health-Related Quality Of Life And Satisfaction After Implant-Supported Prosthetic Treatment, Naimeh Hasheminejad, Maryam Farzadmoghadam, Mohammad Mohammadi, Amir Nekouei, Mohammadreza Rostamizadeh

Journal of Dentistry Indonesia

Objective: This study aimed to determine patients’ positive and negative personality traits in relation to treatment satisfaction and oral health-related quality of life (OHRQOL) in patients who have received dental implant-supported prosthesis. Methods: This study was carried out on 135 adults above the age of 30 who had received reasonable implant treatment and prosthesis in the last 1–24 months in a private and a public dental office. Data collection was carried out using a questionnaire, which was sent to patients via WhatsApp and email. Also, the Persian version of the Oral Health Impact Profile 14 and the Positive Affect Negative …

Self-Medication Behavior Of Dental Students With Oral Ulceration Lesions: A Cross-Sectional Study In Yogyakarta, Indonesia, Fita Fathaya Iriana, Hendri Susanto, Rosa Amalia

Journal of Dentistry Indonesia

Objective: Self-medication refers to medication behavior for self-diagnosed symptoms. Oral ulcers are self-medicated lesions in the oral cavity. Dental students have different knowledge about oral cavity lesions and may self-medicate using drugs. This study aimed to determine the self-medication behavior of dental students for oral ulcers. Methods: This cross-sectional study was conducted on dental students in the Faculty of Dentistry from different batch years. Purposive sampling was used to select students with oral ulcer lesions in the last six months. A validated and reliable questionnaire was used to assess self-medication behavior. Data collection using the online form. Student behavior …

Perception Of Conventional Cigarettes And Vaping Among Smokers And Nonsmokers: A Cross-Sectional Study, Indrayadi Gunardi, Rahmi Amtha, Firstine Kelsi Hartanto, Niko Falatehan, Alyah Heriandi, Angelita Victoria Kurniawan, Najla Nadiah, Wiwiek Poedjiastoeti, Andrijanto Andrijanto, Elizabeth Fitriana Sari

Journal of Dentistry Indonesia

Objectives: The growing popularity of vaping has introduced additional challenges, as potential health risks are still under investigation. Exploring differences in smoking perceptions between smokers and non-smokers could provide valuable insights into smoking behavior and inform effective intervention strategies. This study aimed to evaluate and compare the perceptions of smoking, specifically vaping and conventional cigarette use, among young adult smokers and non-smokers. Methods: An analytical cross-sectional design was employed, with 542 university students included through random sampling, using a questionnaire consisting of 8 items. Data were analyzed using the Kruskal-Wallis test and Rasch model analysis. Results: Of the subjects, 259 …

Neutral Zone Vs. Conventional Denture Fabrication: A Randomized Crossover Study On Denture Performance, Karthik Kannaiyan, Arunima Chauhan, Vijayendranath Nayak, Riyshmaa Devendaran, Dashmita Peterson, Pavittra Kanesan, Vityaa Lakshmi

Journal of Dentistry Indonesia

Objectives: It is challenging to achieve satisfactory outcomes in a complete denture for patients with resorbed residual ridges. Utilization of neutral zone techniques to guide posterior denture tooth arrangement and denture base contouring has been considered for many decades. However, the evidence is still not enough to revise protocols. This study aimed to compare patient satisfaction and stability of neutral zone denture with conventional denture. Methods: A crossover clinical trial was conducted among patients with resorbed mandibular ridges. Each participant received two sets of dentures: one fabricated using the neutral zone technique and one using the conventional method, in a …

Papillon–Lefèvre Syndrome: A Report Of Four Cases In One Family, Muhammed Abdullah Çege, Dilek Aynur Çankal, Ebru Binici, Bilge Turhan Bal

Journal of Dentistry Indonesia

Papillon–Lefèvre syndrome (PLS) is a rare genetic disorder caused by mutations in the cathepsin C gene and inherited in an autosomal recessive pattern. The risk of its occurrence is heightened by consanguineous marriages. PLS affects both genders and presents with hyperkeratotic patches on the hands and feet and precocious aggressive periodontitis. Although teeth initially erupt normally, rapid resorption in periodontal tissues leads to swift tooth loss, and prosthetic rehabilitation is complicated due to aggressive alveolar bone resorption. Case report: In 2021, a brother and sister sought dental treatment at Gazi University’s Faculty of Dentistry. After thorough examinations, the brother underwent …

Comparison Of Pharyngeal Airway And Dentoskeletal Effects Of 2 And 4 Premolar Extraction Treatment In Adult Orthodontic Patients, Esra Genc, Ahmet Karaman

Journal of Dentistry Indonesia

Objective: This study aimed to compare pharyngeal airway and dentoskeletal effects of 2 and 4 premolar extraction treatments in adult patients separately for each gender. Methods: The study was conducted with 60 adults (26 males; 34 females) aged 18-35 years. Individuals were divided into 3 groups as non-extraction, 2-premolar extraction, and 4-premolar extraction. Pre-treatment (T0) and post-treatment (T1) dentoskeletal and pharyngeal airway measurements were performed on cephalometric radiographs. Results: A significant increase in nasopharyngeal airway (PNS-ad2) and anterior hyoid bone movement (CV3ai-H) was observed in the 4-extraction group; whereas in the 2-extraction group, inferior oropharyngeal airway (IAS) narrowing and hyoid …

Effectiveness Of Resin-Infiltration In Masking White Spot Lesions And Enamel Defects, Color Stability And Inhibition Of Caries Progression: A Systematic Review, Amaradri Sravya, Chandrappa Vinay, Kadidal Uloopi, Peddi Ravigna, Penmatsa Chaitanya, Spandana Cheeli

Journal of Dentistry Indonesia

Objective: The study aims to demonstrate the efficacy of resin-infiltration in masking white spot lesions and enamel defects, color stability, and caries progression inhibition in primary and permanent teeth. Methods: PubMed, Cochrane library, Wiley Online Library, and Google Scholar databases were searched from 2018 to 2022 and only randomized controlled clinical trials (RCT’s) were included. The studies were analyzed regarding the clinical efficacy of resin-infiltration in masking white spot lesions and enamel defects, color stability, and inhibition of caries progression. Results: Of the 14 articles identified, 5 RCTs were included. The quality of the studies was assessed …

Identifying Novel Fibrotic Mechanisms Underlying Treatment-Resistant Lower Urinary Tract Dysfunction, Quentin Darcy

Graduate Doctoral Dissertations

ABSTRACT

IDENTIFYING NOVEL FIBROTIC MECHANISMS UNDERLYING TREATMENT-RESISTANT LOWER URINARY TRACT DYSFUNCTION

August 2025

Quentin D’Arcy, B.S., University of Massachusetts Amherst

Ph.D., University of Massachusetts Boston

Directed by Dr. Jill Macoska

Lower urinary tract dysfunction (LUTD) is a common, age-related disease that affects millions of men over the age of 50. Current treatment for this and other related prostate diseases concentrate on decreasing benign prostate growth and relaxing smooth muscle contractions to alleviate urinary voiding symptoms. However, up to 45% of patients with LUTD are treatment-resistant and require surgical intervention to resolve prostate issues. By focusing on the contribution of inflammation-derived …

Methodological Insights From Evaluating A Family Member's Voice Reorientation Programme: An Interpretive Descriptive Approach., Johnson U. Gideon, Towell-Barnard Amanda, Mclean Christopher, Robert Glenn, Ewens Beverley

Research outputs 2022 to 2026

Background: Delirium is a prevalent acute brain dysfunction in patients within intensive care units. Delirium is marked by a fluctuating mental state, inattention, and altered consciousness. This condition affects a substantial proportion of patients in intensive care units, and which leads to increased mortality, severe physiological and psychological consequences, and a significant economic burden on healthcare systems. Despite the evidence that supports the use of non-pharmacological interventions to prevent or minimise the impact of delirium such as orientation, sensory stimulation, early mobilisation, and family involvement, their implementation in intensive care units remains inconsistent. The involvement of family members in the …

Towards A New Health Politics In Kenya: Labor Organizing And Strikes By Health Workers In The Public Health Sector, Michael Scanlon

Graduate Doctoral Dissertations

There has been insufficient attention by global health scholars to labor organizing by health workers, including when and why organizing occurs, what forms and strategies it takes and its implications for governance and policy. These questions are critical but largely absent in research on what has been called the “global health workforce crisis.” Kenya represents an important case study. A new constitution in 2010 expanded institutional spaces for labor organizing and decentralized governance of the health system. Both reforms had significant implications for the health workforce and strikes by health workers have been pervasive. In 2017, nationwide strikes by public …

Auprc: A Metric For Evaluating The Performance Of In-Silico Perturbation Methods In Identifying Differentially Expressed Genes, Hongxu Zhu, Amir Asiaee, Leila Azinfar, Jun Li, Han Liang, Ehsan Irajizad, Kim-Anh Do, James P Long

Faculty, Staff and Student Publications

In silico perturbation models, computational methods that can predict cellular responses to perturbations, present an opportunity to reduce the need for costly and time-intensive in vitro experiments. Many recently proposed models predict high-dimensional cellular responses, such as gene or protein expression to perturbations such as gene knockout or drugs. However, evaluating in silico performance has largely relied on metrics such as $R^{2}$, which assess overall prediction accuracy but fail to capture biologically significant outcomes like the identification of differentially expressed (DE) genes. In this study, we present a novel evaluation framework that introduces the AUPRC metric to assess the precision …

Expression Graph Network Framework For Biomarker Discovery, Yang Liu, Jason Huse, Kasthuri Kannan

Faculty, Staff and Student Publications

Biomarker discovery for complex diseases, such as cancer, hinges on uncovering molecular signatures that capture intricate, interconnected relationships within biological data-a challenge that traditional statistical and machine learning methods often fail to meet due to the complexity of high-dimensional gene expression profiles. To overcome this, we introduce the expression graph network framework (EGNF). This cutting-edge graph-based approach integrates graph neural networks with network-based feature engineering to enhance the predictive identification of biomarkers. EGNF constructs biologically informed networks by combining gene expression data and clinical attributes within a graph database, utilizing hierarchical clustering to generate dynamic, patient-specific representations of molecular interactions. …

Biomarkers For The Diagnosis Of Indeterminate Pulmonary Nodules: Are We There Yet?, Kevin C Mcgann, Timothy A Khalil, Michael N Kammer, Edwin J Ostrin, Harvey I Pass, Jun-Chieh James Tsay, Leopoldo N Segal, Melissa Potter, Stephen A Deppen, Fabien Maldonado, Eric L Grogan

Faculty, Staff and Student Publications

Indeterminate pulmonary nodules (IPNs), which are nodules that cannot be classified as definitively benign or malignant at the time of detection, are now diagnosed on the order of millions per year. Management of IPNs remains heavily debated, and routine practice ultimately involves some balance of overall clinical risk assessment and additional diagnostic tests or procedures which may generate significant risk, cost, and worry. Biomarkers are biologically based tests or indicators capable of accurately characterizing the physiologic properties of homeostasis and disease that are not otherwise easily evaluated by the clinician. Accurate biomarkers thereby serve as reliable surrogates for biological aberrancy, …

Assessing Stages Of Objective Memory Impairment And Neuroimaging As Risk Factors Of Incident Cognitive Impairment, Kellen K Petersen, Ali Ezzati, Bhargav T Nallapu, Richard B Lipton, Reisa A Sperling, Kathryn V Papp, Dorene M Rentz, Keith A Johnson, Ellen Grober

2020-Current year OA Pubs

OBJECTIVE: The Stages of Objective Memory Impairment (SOMI) system, based on the Free and Cued Selective Reminding Test (FCSRT), is a potential marker of subtle cognitive impairment in cognitively normal persons defined by a Clinical Dementia Rating (CDR) = 0. We investigated SOMI's ability to predict incident cognitive impairment (CDR >0) in combination with demographic features and neuroimaging biomarkers.

METHODS: Cognitively unimpaired participants (CDR = 0) from the Harvard Aging Brain Study had baseline FCSRT scores, MRI, FDG-PET, and PiB-PET as well as follow-up CDRs for 5 years. Cox proportional hazards models with correction for multiple testing assessed the predictive …

Bacterial Identification And Antibiotic Sensitivity Profiles From Captive Birds At Taipei Zoo, Younjung Chang, I-Li Liu, Jane-Fang Yu, Lih-Chiann Wang

The Thai Journal of Veterinary Medicine

Bacterial infections are common in zoo birds. They may be caused by pathogenic bacteria or opportunistic bacteria due to trauma or stress-induced immune compromise. Improper use of antibiotics contributes to the development of resistant bacteria, making treatment complicated or ineffective. However, comprehensive clinical investigations into bacterial prevalence and antibiotic susceptibility in zoo-captive birds remain limited. This study identified the bacterial species present in captive diseased birds at the zoo and conducted a 12-year analysis of their antibiotic susceptibility profiles. The specimens from 48 birds at Taipei Zoo from 2006 to 2017 were submitted to a commercial reference laboratory for bacterial …

Medical Students Trained In Emotional Intelligence Seem To Be More Apprehensive Of Artificial Intelligence In Healthcare, Austin P. Runde, Shambhavi Mishra, Marina Feffer, Ramzan Shahid

School of Medicine

The use of artificial intelligence (AI) in healthcare is becoming increasingly widespread. While AI has been touted to reduce burnout and improve outcomes, its potential to undermine the doctor-patient relationship has been recognized. It is not known what future physicians believe regarding AI in healthcare and whether formal training on emotional intelligence and resilience (EIR) affects their opinion. Our medical students were asked to anonymously and voluntarily complete a 12-item survey regarding the potential impact of AI on the doctor-patient relationship (IRB #219038). Results were summarized as means and standard deviations, stratified by whether students did (EIR⁺) or …

Determinan Ketidakpatuhan Kunjungan Pengambilan Obat Antiretroviral Pasien Hiv/Aids Di Kabupaten Bekasi Tahun 2023-2024, Intan Ully Athalia Sihombing, Mondastri Korib Sudaryo, Helda Helda, Helwiah Umniyati, Irva Zulviya Hasyim

Jurnal Epidemiologi Kesehatan Indonesia

Non-adherence to scheduled antiretroviral (ARV) medication pickup can reduce treatment effectiveness, increase the risk of drug resistance, and contribute to poor HIV infection control. This study aimed to identify factors associated with missed ARV pickup appointments among people living with HIV/AIDS in Bekasi District. An analytical cross-sectional study was conducted using secondary data from HIV/AIDS patients undergoing ARV therapy in 2023–2024. Data were analyzed descriptively (univariate), using Chi-square tests (bivariate), and log-binomial regression (multivariate). Among 811 patients, 341 (42%) were recorded as non-adherent to their medication pickup schedule. The results showed that having an unsuppressed viral load (>50 copies/ml) …

Safe Steps: Protecting Pediatric Patients From Falls, Sydney Richter, Generra Okello, Adaeze Ndulue, Megan Bauman, Robert Riegler

2024

No abstract provided.

Exploring Stunting In South Kalimantan Province Using R Programming-Based Data Visualization, Muhammad Hudaya, Wahyudin Nor, Mellani Yuliastina, Muhammad Nordiansyah

Kesmas

South Kalimantan Province continues to face the challenge of relatively high stunting prevalence despite being endowed with abundant coal resources that could serve as a source of funding for public health. Therefore, this study aimed to examine differences in stunting prevalence among cities, mining districts, and non-mining districts in South Kalimantan to raise stakeholder awareness of disparities across these regional types. This study was conducted between April and December 2024, using secondary data obtained from the Indonesian Ministry of Health and the South Kalimantan Provincial Government. R programming was used to process the data, generate visualizations, and perform analysis of …

An Epidemiological Exploration Of Binge Eating Disorder And Its Emotional Roots Among Youth In Greater Jakarta, Henny Kurniati, Yudha Asy'ari, Tri Amelia Rahmitha Helmi, Tonny Sundjaya

Jurnal Epidemiologi Kesehatan Indonesia

The rising prevalence of mental disorders among youth, including depression, anxiety, stress, and binge eating disorder (BED), has become a major concern in the context of global mental health. BED, as a form of eating disorder, often occurs with psychological conditions such as anxiety and depression, complicating diagnosis and treatment. This study aimed to investigate the prevalence and association between depression, anxiety, stress, and BED among youth in Greater Jakarta. Using a cross-sectional online design, data were collected from 231 participants aged 18-25 years through the Binge Eating Scale (BES) and Depression Anxiety Stress Scale-21 (DASS-21). Statistical analysis involved bivariate …

Gambaran Kasus Parotitis Anak Sekolah Dasar Di Wilayah Kerja Puskesmas Loa Bakung, Irfansyah Baharuddin Pakki, Resda Herliani, Noorhayaty Noorhayaty, Vicca Yulia Insany, Arista Dian Yuniasih, Ratih Fianni Sigit

Jurnal Epidemiologi Kesehatan Indonesia

Parotitis is a disease caused by mumps virus infection. The infection attacks the parotid glands, causing symptoms such as fever, swelling on the side of the face accompanied by pain. Data from the Samarinda City Health Office shows that there were 380 cases of mumps from September to early October 2024. The increase in cases also occurred among elementary school children, but there is no definitive data yet that illustrates the number and distribution of parotitis cases. The aim of this study is to identify the risk factors for mumps in elementary school children in the Loa Bakung working area. …

A Qualitative Analysis Of How Just Stop Oil Protests Are Framed In The Uk Online News Media, Holly Handy

The Plymouth Student Scientist

Previous research has found that when the news media reports on demonstrations, protest groups can be subject to delegitimising coverage. This body of research can be subsumed under Chan & Lee’s “protest paradigm” and is believed to consist of a set of narrative frames that journalists default to in the coverage of protests. Recent research demonstrates how the use of these framing devices may be in decline and advocates for a more integrated approach to protest coverage. However, there is little research that uses analytic frameworks specifically theorised to explore media framing. This study uses Giles and Shaw’s media framing …

Longitudinal Meta-Cohort Study Protocol Using Systems Biology To Identify Vaccine Safety Biomarkers, Joann Diray-Arce, Ana C Chang, Sara Moradipoor, Donato Amodio, Bruce Carleton, Wan-Chun Chang, Nigel W Crawford, Meagan Karoly, Annmarie Hoch, Kerry Mcenaney, Tahir S Kafil, Mahitha Donthireddy, Sarah K Steltz, Simon D Van Haren, Asimenia Angelidou, Kinga K Smolen, Hanno Steen, Jessica Lasky-Su, Huyen Tran, Peter Liu, C Buddy Creech, Clare L Cutland, Helen Petousis-Harris, Ishac Nazy, Rae S M Yeung, Sonali Kochhar, Steve Black, Nicholas Wood, Dale Nordenberg, Paolo Palma, Inna G Ovsyannikova, Richard B Kennedy, Gregory A Poland, Al Ozonoff, Robert T Chen, Ofer Levy, Karina A Top, International Network Of Special Immunization Services (Insis) Members

Faculty, Staff and Students Publications

The International Network of Special Immunization Services (INSIS) was established to investigate the causes and risk factors of rare adverse events following immunizations (AEFIs) and develop immunization strategies for mitigating or preventing risk for individuals with prior AEFIs or at risk of AEFIs. INSIS integrates clinical data with multi-omic technologies (e.g., transcriptomics, proteomics, metabolomics) through a global consortium of clinical networks, leading immunology, pharmacogenomics teams to uncover the molecular mechanisms behind AEFIs. The network ensures accurate and standardized data collection and analysis through rigorous data management and quality assurance processes. INSIS also implements harmonized case definitions and protocols for collecting …

Assessment Of The Dietary Supplements Effects On Maternal Underweight In Nigeria, Chukwuebuka Jude Chiobi, Uzoamaka Angela Chiobi, Ambrose Nnaemeka Omeje, Ikechukwu Andrew Mobosi, Michael Okike Ugwu, Nnamdi Simeon Ugwu

Kesmas

Maternal underweight continues to rise and, if not properly managed, will lead to increased mortality. This contradicts the United Nations Sustainable Development Goal of reducing maternal mortality by 2050. Therefore, this study aimed to determine the probable effect of dietary supplements on maternal underweight in Nigeria. This study employed probit estimation using the maximum likelihood technique in 2022, with the 2018 Nigeria Demographic Health Survey data as the basis for analysis. The results showed a statistically significant effect of dietary supplements on maternal underweight in Nigeria. The likelihood of dietary supplements impacting maternal underweight was approximately 0.4% lower, on average, …

Predictors Of Perceived Hiv Stigma Among People Who Inject Drugs In The United States, Itunu Sokale, Paige Wermuth, Johnny Wilkerson, Folefac Atem, Salma Khuwaja, Catherine Troisi

Faculty, Staff and Student Publications

Background: HIV stigma is a huge impediment to ending the HIV epidemic. To develop effective HIV interventions, we must determine factors associated with HIV stigma, particularly among high-risk groups like people who inject drugs (PWID). We aimed to identify predictors of perceived HIV stigma (PHS) among a sample of PWID from 23 U.S. cities.

Methods: We analyzed the 2018 National HIV Behavioral Surveillance data on PWID aged ≥ 18 years. PHS was assessed using a validated survey that measured four PHS constructs: perceived unfriendliness, perceived discrimination, perceived punishment, and perceived support. We created a composite PHS index score by summing …

Biofluid Biomarkers Aid In Diagnosing And Developing Improved Treatments For People With Alzheimer's Disease, Jonatan A. Lopez

University Honors Theses

Dementia is a disease in which daily life is disrupted by a loss of cognitive function. Late-onset Alzheimer's disease (AD) is the most common dementia that largely begins to affect individuals in their mid 60s or older. AD was selected as the focus of this paper because it is the most common form of dementia, accounting for 50-70% of dementia cases. A typical diagnostic approach used by physicians starts with a simple clinical test, the Mini-Mental State Examination (MMSE), when cognitive decline is suspected in a patient. Then if there is enough evidence to suggest AD, a physician would order …

Whole-Genome Sequence-Based Association Analysis Of African American Individuals With Bipolar Disorder And Schizophrenia, Runjia Li, Sarah A Gagliano Taliun, Kevin Liao, Matthew Flickinger, Janet L Sobell, Giulio Genovese, Adam E Locke, Rebeca Rothwell Chiu, Jonathon Lefaive, Jiongming Wang, Taylor Martins, Sinéad Chapman, Anna Neumann, Robert E Handsaker, Donna K Arnett, Kathleen C Barnes, Eric Boerwinkle, David Braff, Brian E Cade, Myriam Fornage, Richard A Gibbs, Karin F Hoth, Lifang Hou, Charles Kooperberg, Ruth J F Loos, Ginger A Metcalf, Courtney G Montgomery, Alanna C Morrison, Zhaohui S Qin, Susan Redline, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Karine A Viaud-Martinez, National Heart, Lung, And Blood Institute Trans-Omics For Precision Medicine (Topmed) Consortium;, Genomic Psychiatry Cohort Investigators, Tim B Bigdeli, Stacey Gabriel, Sebastian Zollner, Albert V Smith, Goncalo Abecasis, Steve A Mccarroll, Michele T Pato, Carlos N Pato, Michael Boehnke, James Knowles, Hyun Min Kang, Roel A Ophoff, Jason Ernst, Laura J Scott

Faculty, Staff and Students Publications

In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole-genome sequencing (∼27X) of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study). We increased power by incorporating 14,812 jointly called psychiatrically unscreened ancestry-matched controls from the Trans-Omics for Precision Medicine (TOPMed) Program for a total of …