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  1. Article ; Online: Adenopathy Following COVID-19 Vaccination.

    Washington, Tina / Bryan, Rebecca / Clemow, Christina

    Radiology

    2021  Volume 299, Issue 3, Page(s) E280–E281

    MeSH term(s) Adult ; Axilla ; Breast/diagnostic imaging ; COVID-19 Vaccines/adverse effects ; Female ; Humans ; Lymph Nodes/diagnostic imaging ; Lymphadenopathy/diagnostic imaging ; Lymphadenopathy/etiology ; Mammography/methods ; SARS-CoV-2 ; Ultrasonography/methods
    Chemical Substances COVID-19 Vaccines
    Language English
    Publishing date 2021-02-24
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 80324-8
    ISSN 1527-1315 ; 0033-8419
    ISSN (online) 1527-1315
    ISSN 0033-8419
    DOI 10.1148/radiol.2021210236
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: A synthesis and subgroup analysis of the eosinophilic esophagitis tissue transcriptome.

    Jacobse, Justin / Brown, Rachel / Revetta, Frank / Vaezi, Michael / Buendia, Matthew A / Williams, Christopher S / Higginbotham, Tina / Washington, M Kay / Goettel, Jeremy / Hiremath, Girish / Choksi, Yash A

    The Journal of allergy and clinical immunology

    2023  Volume 153, Issue 3, Page(s) 759–771

    Abstract: Background: Eosinophilic esophagitis (EoE) is a chronic immune mediated inflammatory disorder of the esophagus. It is still unknown why children and adults present differently, and there is little evidence about why it is more common in men than women.!# ...

    Abstract Background: Eosinophilic esophagitis (EoE) is a chronic immune mediated inflammatory disorder of the esophagus. It is still unknown why children and adults present differently, and there is little evidence about why it is more common in men than women.
    Objective: Our aim was to synthesize published and unpublished esophageal bulk RNA-sequencing (RNA-seq) data to gain novel insights into the pathobiology of EoE and examine the differences in EoE transcriptome by sex and age group.
    Methods: Esophageal bulk RNA-seq data from 5 published and 2 unpublished studies resulting in 137 subjects (EoE: N = 76; controls: N = 61) were analyzed. For overall analysis, combined RNA-seq data of patients with EoE were compared with those of controls and subgroup analysis was conducted in patients with EoE by age of the patient (children [<18 years] vs adults [≥18 years]) and sex (female vs male). Gene-set enrichment analysis, ingenuity pathway analysis (IPA), cell-type analysis, immunohistochemistry, and T-cell or B-cell receptor analysis were performed.
    Results: Overall analysis identified dysregulation of new genes in EoE compared with controls. IPA revealed that EoE is characterized by a mixed inflammatory response compared with controls. Cell-type analysis showed that cell composition varied with age: children had more mast cells, whereas adults had more macrophages. Finally, gene-set enrichment analysis and IPA revealed pathways that were differentially regulated in adults versus children and male versus female patients with EoE.
    Conclusions: Using a unique approach to analyze bulk RNA-seq data, we found that EoE is characterized by a mixed inflammatory response, and the EoE transcriptome may be influenced by age and sex. These findings enhance insights into the molecular mechanisms of EoE.
    MeSH term(s) Child ; Adult ; Humans ; Male ; Female ; Adolescent ; Eosinophilic Esophagitis/genetics ; Transcriptome ; Immunohistochemistry ; RNA
    Chemical Substances RNA (63231-63-0)
    Language English
    Publishing date 2023-10-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 121011-7
    ISSN 1097-6825 ; 1085-8725 ; 0091-6749
    ISSN (online) 1097-6825 ; 1085-8725
    ISSN 0091-6749
    DOI 10.1016/j.jaci.2023.10.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Image quality of photon counting and energy integrating chest CT - Prospective head-to-head comparison on same patients.

    Schwartz, Fides R / Ria, Francesco / McCabe, Cindy / Zarei, Mojtaba / Rajagopal, Jayasai / Molvin, Lior / Marin, Daniele / O'Sullivan-Murphy, Bryan / Kalisz, Kevin R / Tailor, Tina D / Washington, Lacey / Henry, Travis / Samei, Ehsan

    European journal of radiology

    2023  Volume 166, Page(s) 111014

    Abstract: Purpose: To prospectively compare the image quality of high-resolution, low-dose photon-counting detector CT (PCD-CT) with standard energy-integrating-detector CT (EID) on the same patients.: Method: IRB-approved, prospective study; patients received ...

    Abstract Purpose: To prospectively compare the image quality of high-resolution, low-dose photon-counting detector CT (PCD-CT) with standard energy-integrating-detector CT (EID) on the same patients.
    Method: IRB-approved, prospective study; patients received same-day non-contrast CT on EID and PCD-CT (NAEOTOM Alpha, blinded) with clinical protocols. Four blinded radiologists evaluated subsegmental bronchial wall definition, noise, and overall image quality in randomized order (0 = worst; 100 = best). Cases were quantitatively compared using the average Global-Noise-Index (GNI), Noise-Power-Spectrum average frequency (f
    Results: Sixty patients were prospectively imaged (27 men, mean age 67 ± 10 years, mean BMI 27.9 ± 6.5, 15.9-49.4 kg/m
    Conclusion: Though PCD-CT had higher measured and perceived noise, it offered equivalent or better diagnostic quality compared to EID at lower radiation doses, due to its improved resolution.
    MeSH term(s) Aged ; Humans ; Male ; Middle Aged ; Clinical Protocols ; Phantoms, Imaging ; Photons ; Prospective Studies ; Tomography, X-Ray Computed/methods
    Language English
    Publishing date 2023-07-26
    Publishing country Ireland
    Document type Journal Article ; Randomized Controlled Trial
    ZDB-ID 138815-0
    ISSN 1872-7727 ; 0720-048X
    ISSN (online) 1872-7727
    ISSN 0720-048X
    DOI 10.1016/j.ejrad.2023.111014
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Qualitative study of knowledge, perception, behavior and barriers associated with cardiovascular disease risk among overweight and obese Hispanic taxi drivers of South Bronx, NYC.

    Kanna, Balavenkatesh / Ukudeyeva, Aijan / Faiz, Mohammad / Roques, Euripides / Washington, Tina / Ramirez, Leandro / Shariff, Masood A / Espejo, Maria

    BMC public health

    2020  Volume 20, Issue 1, Page(s) 683

    Abstract: Background: Taxi drivers are prone to developing cardiovascular disease (CVD) risk factors by adopting poor health behaviors due to their work environment. The population of Hispanic taxi drivers in inner city South Bronx, NYC, have not been studied. ... ...

    Abstract Background: Taxi drivers are prone to developing cardiovascular disease (CVD) risk factors by adopting poor health behaviors due to their work environment. The population of Hispanic taxi drivers in inner city South Bronx, NYC, have not been studied. The goal of our qualitative study is to understand the perception, knowledge, behavior and barriers that influence CVD risk in overweight and obese inner-city Hispanic drivers.
    Methods: A cross-sectional qualitative study was conducted among community-based taxi drivers in South Bronx, NYC. Hispanic taxi drivers with body mass index of greater than 25 kg/m
    Results: We conducted 3 focus groups (N = 25) and themes that emerged were evaluated. Through the Health Belief Model framework, Hispanic taxi driver participants reported demanding and stressful work shifts, barriers to better nutrition and good health, poor support systems, and low self-efficacy in overcoming barriers to improve their risk for CVD, due to lower perceived benefits and greater perceived barriers.
    Conclusions: Inner-city Hispanic NYC taxi drivers have several contributing factors and barriers leading to a poor CVD risk and high body weight profile. Understanding their knowledge, perception and barriers the drivers face in improving their CVD risk, underscores the importance of community outreach programs to develop a framework in empowering and improving the health of this population.
    MeSH term(s) Adult ; Aged ; Automobile Driving ; Body Mass Index ; Cardiovascular Diseases/etiology ; Cross-Sectional Studies ; Female ; Focus Groups ; Health Behavior ; Health Knowledge, Attitudes, Practice ; Hispanic or Latino ; Humans ; Male ; Middle Aged ; New York City ; Obesity/complications ; Occupations ; Overweight/complications ; Qualitative Research ; Residence Characteristics ; Risk Factors ; Self Efficacy ; Young Adult
    Language English
    Publishing date 2020-05-14
    Publishing country England
    Document type Journal Article
    ZDB-ID 2041338-5
    ISSN 1471-2458 ; 1471-2458
    ISSN (online) 1471-2458
    ISSN 1471-2458
    DOI 10.1186/s12889-020-08751-0
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Torrefied agro-industrial residue as filler in natural rubber compounds

    Torres, Lennard Farrales / Mccaffrey, Zachariah / Washington, Wisdom / Williams, Tina G. / Wood, Delilah F. / Orts, William J. / Mcmahan, Colleen M.

    Journal of applied polymer science. 2021 July 20, v. 138, no. 28

    2021  

    Abstract: This study explored the feasibility of using torrefied biomass as a reinforcing filler in natural rubber compounds. Carbon black was then replaced with the torrefied biomass in elastomer formulations for concentration varying from 0 to 100 percent (60 ... ...

    Abstract This study explored the feasibility of using torrefied biomass as a reinforcing filler in natural rubber compounds. Carbon black was then replaced with the torrefied biomass in elastomer formulations for concentration varying from 0 to 100 percent (60 phr total). Their influence on the curing process, dynamic properties, and mechanical properties was investigated. Results were compared with the properties of vulcanizates containing solely carbon black fillers. Time to cure (t90) for compounds with torrefied biomass fillers increased, while filler-filler interactions (delta G') decreased, compared to carbon black controls. At low strains, the tan d values of the torrefied fillers vulcanizates were similar to the controls. Incorporation of torrefied biomass into natural rubber decreased compound tensile strength and modulus but increased elongation. Replacement with torrefied fillers resulted in a weaker filler network in the matrix. Still, results showed that moderate substitution concentrations (~20 phr) could be feasible for some natural rubber applications.
    Keywords biomass ; polymers ; rubber ; soot ; tensile strength
    Language English
    Dates of publication 2021-0720
    Document type Article
    ZDB-ID 1491105-X
    ISSN 1097-4628 ; 0021-8995
    ISSN (online) 1097-4628
    ISSN 0021-8995
    DOI 10.1002/app.50684
    Database NAL-Catalogue (AGRICOLA)

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  6. Article ; Online: Qualitative study of knowledge, perception, behavior and barriers associated with cardiovascular disease risk among overweight and obese Hispanic taxi drivers of South Bronx, NYC

    Balavenkatesh Kanna / Aijan Ukudeyeva / Mohammad Faiz / Euripides Roques / Tina Washington / Leandro Ramirez / Masood A. Shariff / Maria Espejo

    BMC Public Health, Vol 20, Iss 1, Pp 1-

    2020  Volume 10

    Abstract: Abstract Background Taxi drivers are prone to developing cardiovascular disease (CVD) risk factors by adopting poor health behaviors due to their work environment. The population of Hispanic taxi drivers in inner city South Bronx, NYC, have not been ... ...

    Abstract Abstract Background Taxi drivers are prone to developing cardiovascular disease (CVD) risk factors by adopting poor health behaviors due to their work environment. The population of Hispanic taxi drivers in inner city South Bronx, NYC, have not been studied. The goal of our qualitative study is to understand the perception, knowledge, behavior and barriers that influence CVD risk in overweight and obese inner-city Hispanic drivers. Methods A cross-sectional qualitative study was conducted among community-based taxi drivers in South Bronx, NYC. Hispanic taxi drivers with body mass index of greater than 25 kg/m2 were screened and recruited for the study. Focus groups were organized to evaluate CVD and obesity risk factors through open-ended questions. The discussions were recorded, transcribed and analyzed using standard qualitative techniques. The Health Belief Model framework was applied to understand and evaluate likelihood of promoting health behaviors in this population based on the findings from the focus groups. Results We conducted 3 focus groups (N = 25) and themes that emerged were evaluated. Through the Health Belief Model framework, Hispanic taxi driver participants reported demanding and stressful work shifts, barriers to better nutrition and good health, poor support systems, and low self-efficacy in overcoming barriers to improve their risk for CVD, due to lower perceived benefits and greater perceived barriers. Conclusions Inner-city Hispanic NYC taxi drivers have several contributing factors and barriers leading to a poor CVD risk and high body weight profile. Understanding their knowledge, perception and barriers the drivers face in improving their CVD risk, underscores the importance of community outreach programs to develop a framework in empowering and improving the health of this population.
    Keywords Knowledge ; Perceptions ; Minority health ; Taxi drivers ; Cardiovascular disease ; Public aspects of medicine ; RA1-1270
    Subject code 380
    Language English
    Publishing date 2020-05-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Impedance and Histologic Characteristics of the Sub-Laryngeal Esophagus Distinguish Eosinophilic Esophagitis From Other Esophageal Disorders.

    Choksi, Yash A / Chaparro, Jasmine / Blanco, Michael / Sharda, Rohit / Sarker, Shabnam / Ferguson, Sarah / Higginbotham, Tina / Hiremath, Girish / Revetta, Frank / Washington, M Kay / Williams, Christopher S / Vaezi, Michael F

    Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association

    2019  Volume 18, Issue 8, Page(s) 1727–1735.e2

    Abstract: Background & aims: The region of the esophagus 15-17 cm below the incisors, called the sub-upper esophageal sphincter (sub-UES), has not been characterized in adults with eosinophilic esophagitis (EoE) but appears different during endoscopy. We ... ...

    Abstract Background & aims: The region of the esophagus 15-17 cm below the incisors, called the sub-upper esophageal sphincter (sub-UES), has not been characterized in adults with eosinophilic esophagitis (EoE) but appears different during endoscopy. We investigated how the sub-UES differs from the remaining esophagus in patients with EoE and aimed to determine whether these differences be used to distinguish patients with EoE from those with lichen planus.
    Methods: We performed a prospective study of 14 patients with EoE, 7 patients with lichen planus (based on presence of Civatte bodies, dysphagia, and/or narrow esophagus with thin esophageal mucosa without signs of EoE), and 20 patients undergoing upper endoscopy for upper gastrointestinal or with dysphagia but without features of EoE (controls) at a single medical center from 2015 through 2018. Biopsies from the distal, middle, and sub-UES regions of the esophagus were analyzed by histology, quantitative PCR, and immunohistochemistry. We measured mucosal impedance (MI) in all subjects at the sub-UES and 2 cm, 5 cm, and 10 cm from the gastro-esophageal junction.
    Results: Patients with EoE had significantly fewer eosinophils (median, 2 eosinophils/high-powered field [HPF]; range, 0-8 eosinophils/HPF) in sub-UES tissues compared with distal esophagus (median, 50 eosinophils/HPF; range, 22.5-60.8 eosinophils/HPF; P < .0001) or middle esophagus (median, 32 eosinophils/HPF; range, 19.3-60; P < .0001). Sub-UES tissues from patients with EoE had significantly less basal cell hyperplasia (P < .01), papillary elongation (P < .01), and dilated intercellular spaces (P < .01) than middle or and distal esophagus. MI in the sub-UES did not differ significantly between patients with EoE vs controls (P = .24), but was significantly lower in patients with lichen planus (median, 1344 ohms; range, 1046-1488) than patients with EoE (median, 2880 ohms; range, 2149-4858) (P < .001). mRNA and protein expression patterns did not differ significantly in the sub-UES of patients with EoE vs controls, except for expression of desmoglein-1, which was increased in sub-UES tissues from patients with EoE.
    Conclusions: Sub-UES tissues from patients with EoE differ in numbers of eosinophils, histologic features, and MI compared to controls or patients with lichen planus. These features might help to distinguish these 2 diseases.
    MeSH term(s) Electric Impedance ; Eosinophilic Esophagitis/diagnosis ; Eosinophils ; Esophageal Mucosa ; Esophageal Sphincter, Upper ; Humans ; Prospective Studies
    Language English
    Publishing date 2019-10-04
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2119789-1
    ISSN 1542-7714 ; 1542-3565
    ISSN (online) 1542-7714
    ISSN 1542-3565
    DOI 10.1016/j.cgh.2019.09.032
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: 2377

    Balavenkatesh Kanna / Erida Castro-Rivas / Euripides Roques / Shirley Magabo / Tina Washington / Mohammad Faiz / Namita Tiwari / Andrea Faraci / Edgardo Guzman

    Journal of Clinical and Translational Science, Vol 1, Pp 75-

    2017  Volume 75

    Abstract: OBJECTIVES/SPECIFIC AIMS: More than 2 out of 3 adults in the United States are overweight or obese. Obesity disproportionately affects minority populations. There is limited data on obesity and CVD risks among inner-city minority cab drivers in New York ... ...

    Abstract OBJECTIVES/SPECIFIC AIMS: More than 2 out of 3 adults in the United States are overweight or obese. Obesity disproportionately affects minority populations. There is limited data on obesity and CVD risks among inner-city minority cab drivers in New York City (NYC). The goal is to study perceptions, knowledge and health behaviors of Hispanic livery cab drivers of NYC that contributes to obesity. METHODS/STUDY POPULATION: We conducted an observational study of focus groups related to perception, knowledge, or behavior among Latino livery cab drivers of NYC. Direct transcription of the taped recordings into concepts were grouped into themes and common themes were categorized. The sample size of the focus groups was based on the saturation point where common themes emerged. RESULTS/ANTICIPATED RESULTS: In total, 25 Latino livery cab drivers were enrolled. Of those, 24 were men. Mean age is 53 years (21–69); body mass index (BMI) is 31 (22.8–38.7) kg/m2; 50% had hypertension and 27% had diabetes. Eight dominant themes emerged. Cab drivers were aware of their increased risk for CVD which most of them attributed to work stress, sedentary lifestyle, and poor eating habits “on-the-go”. In particular, they mentioned a tendency of having “Pipa,” a Spanish term denoting increased abdominal girth, which they equated to early death. Family and social support was an important facilitator in changing unhealthy behaviors. DISCUSSION/SIGNIFICANCE OF IMPACT: Our study shows that minority cab drivers are generally obese or overweight and aware of their personal risk factors for CVD including central obesity. Social and family support may be key to improving their lifestyle. An evidenced-based health model that includes family education and decision support will be tested in our next study phase to understand if it can improve body weight.
    Keywords Medicine ; R
    Subject code 796
    Language English
    Publishing date 2017-09-01T00:00:00Z
    Publisher Cambridge University Press
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Barriers to Follow-up Colonoscopies for Patients With Positive Results From Fecal Immunochemical Tests During Colorectal Cancer Screening.

    May, Folasade P / Yano, Elizabeth M / Provenzale, Dawn / Brunner, Julian / Yu, Christine / Phan, Jennifer / Bharath, Purnima / Aby, Elizabeth / Dinh, Doantrang / Ehrlich, Dean S / Storage, Tina R / Lin, Lisa D / Jamaluddin, Nimah N / Washington, Donna L

    Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association

    2018  Volume 17, Issue 3, Page(s) 469–476

    Abstract: Background & aims: Colorectal cancer is common yet largely preventable. The fecal immunochemical test (FIT) is a highly recommended screening method, but patients with positive results must receive a follow-up colonoscopy to determine if they have ... ...

    Abstract Background & aims: Colorectal cancer is common yet largely preventable. The fecal immunochemical test (FIT) is a highly recommended screening method, but patients with positive results must receive a follow-up colonoscopy to determine if they have precancerous or cancerous lesions. We characterized colonoscopic follow-up evaluations and reasons for lack of follow-up in a Veterans Affairs (VA) cohort.
    Methods: We conducted a retrospective cross-sectional analysis of patients 50 to 75 years old with a positive FIT result from January 1, 2014, through May 31, 2016, in a network of 12 VAs sites in southern California. We determined the proportion of patients who received a follow-up colonoscopy, median time to colonoscopy, and colonoscopy findings. For patients who did not undergo colonoscopy, we determined the documented reason for lack of colonoscopy and factors associated with declining the colonoscopy examination.
    Results: Of the 10,635 FITs performed, 916 (8.6%) produced positive results; 569 of these (62.1%) were followed by colonoscopy. The median time to colonoscopy after a positive FIT result was 83 days (interquartile range, 54-145 d), which did not vary between veterans who received a colonoscopy at a VA facility (81 d; interquartile range, 52-143 d) vs a non-VA site (87 d; interquartile range, 60-154 d) (P = .2). For the 347 veterans (37.9%) who did not undergo follow-up colonoscopy, the reasons were patient-related (49.3%), provider-related (16.4%), system-related (12.1%), or multifactorial (22.2%). Overall, patient decline of colonoscopy (35.2%) was the most common reason.
    Conclusions: In a cohort of veterans with positive results from FITs during CRC screening, reasons for lack of follow-up colonoscopy varied and included patient, provider, and system factors. These findings can be used to reduce barriers to follow-up colonoscopy and to address system-level challenges in scheduling and attrition for colonoscopy.
    MeSH term(s) Aged ; California ; Colonoscopy/statistics & numerical data ; Colorectal Neoplasms/diagnosis ; Cross-Sectional Studies ; Diagnostic Tests, Routine/methods ; Early Detection of Cancer/statistics & numerical data ; Facilities and Services Utilization/statistics & numerical data ; Feces/chemistry ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Veterans
    Language English
    Publishing date 2018-05-29
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2119789-1
    ISSN 1542-7714 ; 1542-3565
    ISSN (online) 1542-7714
    ISSN 1542-3565
    DOI 10.1016/j.cgh.2018.05.022
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans.

    Washington, Charles / Dapas, Matthew / Biddanda, Arjun / Magnaye, Kevin M / Aneas, Ivy / Helling, Britney A / Szczesny, Brooke / Boorgula, Meher Preethi / Taub, Margaret A / Kenny, Eimear / Mathias, Rasika A / Barnes, Kathleen C / Khurana Hershey, Gurjit K / Kercsmar, Carolyn M / Gereige, Jessica D / Makhija, Melanie / Gruchalla, Rebecca S / Gill, Michelle A / Liu, Andrew H /
    Rastogi, Deepa / Busse, William / Gergen, Peter J / Visness, Cynthia M / Gold, Diane R / Hartert, Tina / Johnson, Christine C / Lemanske, Robert F / Martinez, Fernando D / Miller, Rachel L / Ownby, Dennis / Seroogy, Christine M / Wright, Anne L / Zoratti, Edward M / Bacharier, Leonard B / Kattan, Meyer / O'Connor, George T / Wood, Robert A / Nobrega, Marcelo A / Altman, Matthew C / Jackson, Daniel J / Gern, James E / McKennan, Christopher G / Ober, Carole

    Genome medicine

    2022  Volume 14, Issue 1, Page(s) 112

    Abstract: Background: Asthma is the most common chronic disease in children, occurring at higher frequencies and with more severe disease in children with African ancestry.: Methods: We tested for association with haplotypes at the most replicated and ... ...

    Abstract Background: Asthma is the most common chronic disease in children, occurring at higher frequencies and with more severe disease in children with African ancestry.
    Methods: We tested for association with haplotypes at the most replicated and significant childhood-onset asthma locus at 17q12-q21 and asthma in European American and African American children. Following this, we used whole-genome sequencing data from 1060 African American and 100 European American individuals to identify novel variants on a high-risk African American-specific haplotype. We characterized these variants in silico using gene expression and ATAC-seq data from airway epithelial cells, functional annotations from ENCODE, and promoter capture (pc)Hi-C maps in airway epithelial cells. Candidate causal variants were then assessed for correlation with asthma-associated phenotypes in African American children and adults.
    Results: Our studies revealed nine novel African-specific common variants, enriched on a high-risk asthma haplotype, which regulated the expression of GSDMA in airway epithelial cells and were associated with features of severe asthma. Using ENCODE annotations, ATAC-seq, and pcHi-C, we narrowed the associations to two candidate causal variants that are associated with features of T2 low severe asthma.
    Conclusions: Previously unknown genetic variation at the 17q12-21 childhood-onset asthma locus contributes to asthma severity in individuals with African ancestries. We suggest that many other population-specific variants that have not been discovered in GWAS contribute to the genetic risk for asthma and other common diseases.
    MeSH term(s) Black or African American/genetics ; Alleles ; Asthma/genetics ; Asthma/metabolism ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Neoplasm Proteins/genetics ; Polymorphism, Single Nucleotide ; Pore Forming Cytotoxic Proteins
    Chemical Substances GSDMA protein, human ; Neoplasm Proteins ; Pore Forming Cytotoxic Proteins
    Language English
    Publishing date 2022-09-29
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2484394-5
    ISSN 1756-994X ; 1756-994X
    ISSN (online) 1756-994X
    ISSN 1756-994X
    DOI 10.1186/s13073-022-01114-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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