Article
Oncology
Parvathi A. Myer, Jessica K. Lee, Russell W. Madison, Kith Pradhan, Justin Y. Newberg, Carmen R. Isasi, Samuel J. Klempner, Garrett M. Frampton, Jeffery S. Ross, Jeffrey M. Venstrom, Alexa B. Schrock, Sudipto Das, Leonard Augenlicht, Amit Verma, John M. Greally, Srilakshmi M. Raj, Sanjay Goel, Siraj M. Ali
Summary: Black people have a higher incidence and worse survival rates for colorectal cancer compared to white people. African descent patients have more frequent genetic alterations, particularly in KRAS, APC, and PIK3CA genes. In young-onset colorectal cancer, there are significant differences in APC mutations between African descent and European descent patients.
Article
Pharmacology & Pharmacy
Ahmed El-Boraie, Meghan J. Chenoweth, Jennie G. Pouget, Neal L. Benowitz, Koya Fukunaga, Taisei Mushiroda, Michiaki Kubo, Nicole L. Nollen, Lisa Sanderson Cox, Caryn Lerman, Jo Knight, Rachel F. Tyndale
Summary: The Nicotine Metabolite Ratio (NMR) is influenced by smoking behavior, diseases, and cessation outcomes. Genetic risk scores based on CYP2A6 for European and African populations can accurately reflect metabolizer types and predict the NMR.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Medicine, General & Internal
Ying Xiong, Susanna Kullberg, Lori Garman, Nathan Pezant, David Ellinghaus, Vasiliki Vasila, Anders Eklund, Benjamin A. Rybicki, Michael C. Iannuzzi, Stefan Schreiber, Joachim Mueller-Quernheim, Courtney G. Montgomery, Johan Grunewald, Leonid Padyukov, Natalia V. Rivera
Summary: This study analyzed sex-dependent genetic variations in two clinical phenotypes of sarcoidosis and identified sex-specific genetic variations associated with the disease. Gene-based analysis and eQTL enrichment revealed different patterns of gene expression in various tissues and immune cell types. These findings provide new evidence for the genetic architecture of sarcoidosis, particularly in clinical phenotypes, and suggest that biological sex plays a significant role in the disease mechanisms.
FRONTIERS IN MEDICINE
(2023)
Article
Multidisciplinary Sciences
Zhongshan Cheng, Yi Cai, Ke Zhang, Jingxuan Zhang, Hongsheng Gui, Yu-Si Luo, Jie Zhou, Brian DeVeale
Summary: Through an integrative analysis of two genome-wide association studies, we identified ancestry-linked genetic risk variants associated with COVID-19 hospitalization and identified four more frequent single nucleotide polymorphisms in COVID-19-hospitalized patients with non-European ancestry. Among them, the COVID-19 risk SNP rs16831827 showed the largest difference in minor allele frequency (MAF) between populations with African and European ancestry and also exhibited higher MAF in hospitalized COVID-19 patients with mixed ancestry (odds ratio [OR] = 1.20, 95% CI: 1.10-1.30) and entirely African ancestry (OR = 1.30, 95% CI: 1.02-1.67). rs16831827 is an expression quantitative trait locus of MAP3K19, which is highly expressed in ciliated tissues including lungs, and its reduced expression may increase the risk of severe COVID-19.
Article
Multidisciplinary Sciences
James A. Ward, Gillian P. McHugo, Michael J. Dover, Thomas J. Hall, Said Ismael Ng'ang'a, Tad S. Sonstegard, Daniel G. Bradley, Laurent A. F. Frantz, Michael Salter-Townshend, David E. MacHugh
Summary: The phenotypic diversity of African cattle is a result of adaptation to environmental conditions and human selection, with evidence for coevolution between mitochondrially targeted nuclear genes.
Article
Genetics & Heredity
Rajdip Basnet, Niraj Rai, Rakesh Tamang, Nagendra Prasad Awasthi, Isha Pradhan, Pawan Parajuli, Deepak Kashyap, Alla Govardhan Reddy, Gyaneshwer Chaubey, Krishna Das Manandhar, Tilak Ram Shrestha, Kumarasamy Thangaraj
Summary: This study investigates the past demographic events that shaped the genetic diversity of present-day Nepalese population through the analysis of mtDNA variations. The findings reveal that the genomic landscapes of prehistoric Himalayan settlers of Nepal are similar to that of the low-altitude extant Nepalese, but differ from contemporary high-altitude Sherpas.
Article
Oncology
Heidy N. Medina, Frank J. Penedo, Clarisse Joachim, Jacqueline Deloumeaux, Tulay Koru-Sengul, Jonathan Macni, Bernard Bhakkan, Jessica Peruvien, Matthew P. Schlumbrecht, Paulo S. Pinheiro
Summary: This study compared vulnerability and incidence rates of endometrial cancer (EC) between African American and Caribbean Black women. The results showed that Caribbean Black women had lower risks of nonendometrioid EC, but there was an increasing trend of nonendometrioid EC for all populations.
Editorial Material
Genetics & Heredity
Elizabeth G. Atkinson
Summary: A new study suggests that the correlation of causal genetic variants is largely similar across different ancestry backgrounds, as estimated using admixture.
Article
Multidisciplinary Sciences
Noemi-Nicole Piga, Palwende Romuald Boua, Chisom Soremekun, Nick Shrine, Kayesha Coley, Jean-Tristan Brandenburg, Martin D. Tobin, Michele Ramsay, Segun Fatumo, Ananyo Choudhury, Chiara Batini
Summary: Smoking is a major risk factor for many causes of death globally. Most smokers live in low- and middle-income countries, where the number of deaths caused by tobacco use is expected to double in the next decade. Genetic studies have mainly focused on individuals of European ancestry or living in North America or Europe. This study examined the genetic factors related to smoking behaviors in African men from five African countries and the UK.
SCIENTIFIC REPORTS
(2022)
Review
Genetics & Heredity
S. Singh, J-t. Brandenburg, A. Choudhury, F. X. Gomez-Olive, M. Ramsay
Summary: This study critically evaluated existing studies on genetic associations with blood pressure-related traits in individuals with African-ancestry, identifying knowledge gaps and emphasizing the importance of including African participants in genomic studies.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Jia Wen, Munan Xie, Bryce Rowland, Jonathan D. Rosen, Quan Sun, Amanda L. Tapia, Huijun Qian, Madeline H. Kowalski, Yue Shan, Kristin L. Young, Marielisa Graff, Maria Argos, Christy L. Avery, Stephanie A. Bien, Steve Buyske, Jie Yin, Helene Choquet, Myriam Fornage, Chani J. Hodonsky, Eric Jorgenson, Charles Kooperberg, Ruth J. F. Loos, Yongmei Liu, Jee-Young Moon, Kari E. North, Stephen S. Rich, Jerome Rotter, Jennifer A. Smith, Wei Zhao, Lulu Shang, Tao Wang, Xiang Zhou, Alexander P. Reiner, Laura M. Raffield, Yun Li
Summary: This study utilized datasets from different populations to establish gene expression prediction models and conduct transcriptome-wide association studies, identifying several suggestive signals with potential research value that were successfully replicated in other populations. The findings highlight the importance of performing genetic analyses across diverse populations and balancing sample size and ancestry background matching when selecting a reference panel for such analyses.
Article
Endocrinology & Metabolism
Michelle S. Yau, Allison L. Kuipers, Ryan Price, Aude Nicolas, Salman M. Tajuddin, Samuel K. Handelman, Liubov Arbeeva, Alessandra Chesi, Yi-Hsiang Hsu, Ching-Ti Liu, David Karasik, Babette S. Zemel, Struan F. A. Grant, Joanne M. Jordan, Rebecca D. Jackson, Michele K. Evans, Tamara B. Harris, Joseph M. Zmuda, Douglas P. Kiel
Summary: Studies on bone mineral density (BMD) genetics have mostly focused on European populations, but this meta-analysis of six African ancestry cohorts found some BMD loci associated with BMD in African populations as well. However, most known BMD loci were not transferable, highlighting the need for larger genetic studies to identify population-specific variants.
JOURNAL OF BONE AND MINERAL RESEARCH
(2021)
Article
Cell Biology
Chunyu Liu, Jessica L. Fetterman, Yong Qian, Xianbang Sun, Thomas W. Blackwell, Achilleas Pitsillides, Brian E. Cade, Heming Wang, Laura M. Raffield, Leslie A. Lange, Pramod Anugu, Goncalo Abecasis, L. Adrienne Cupples, Susan Redline, Adolfo Correa, Ramachandran S. Vasan, James G. Wilson, Jun Ding, Daniel Levy
Summary: The study found significant differences in mitochondrial DNA heteroplasmic mutations in maternal pairs in terms of concordance and discordance, with the number of deleterious heteroplasmies increasing significantly with age. Furthermore, an increase in heteroplasmic burden was strongly associated with a decrease in average number of mtDNA copy number in blood.
Article
Multidisciplinary Sciences
Guilherme Debortoli, Gilderlanio Santana de Araujo, Cesar Fortes-Lima, Esteban J. Parra, Guilherme Suarez-Kurtz
Summary: The study found that the Preemptive PGx and DMET panels performed better in capturing individual admixture proportions in recently mixed populations in the Americas, providing reliable information on biogeographical ancestry and guiding the implementation of individualized genomic clinical decision support tools. Additionally, these panels can help control for population stratification effects in association studies in recently admixed populations, as demonstrated in a warfarin dosing GWA study in a sample from Brazil.
SCIENTIFIC REPORTS
(2021)
Article
Multidisciplinary Sciences
Nicholas W. Bateman, Christopher M. Tarney, Tamara S. Abulez, Brian L. Hood, Kelly A. Conrads, Ming Zhou, Anthony R. Soltis, Pang-Ning Teng, Amanda Jackson, Chunqiao Tian, Clifton L. Dalgard, Matthew D. Wilkerson, Michael D. Kessler, Zachary Goecker, Jeremy Loffredo, Craig D. Shriver, Hai Hu, Michele Cote, Glendon J. Parker, James Segars, Ayman Al-Hendy, John Risinger, Neil T. Phippen, Yovanni Casablanca, Kathleen M. Darcy, G. Larry Maxwell, Thomas P. Conrads, Timothy D. O'Connor
Summary: Characterization of ancestry-linked peptide variants in disease-relevant patient tissues is important for understanding the relationship between patient ancestry and disease pathogenesis. The study identifies peptide ancestry informative markers (pAIMs) to determine ancestry proportions and their correlation with patient race and genotype. The findings contribute to the understanding of the impact of ancestry on the human proteome and its relevance to uterine neoplasms.
Article
Oncology
Kyle M. Walsh, Corey Neff, Melissa L. Bondy, Carol Kruchko, Jason T. Huse, Christopher Amos, Jill S. Barnholtz-Sloan, Quinn T. Ostrom
Summary: The incidence and outcomes of glioma differ in association with the geographic origins of Hispanic communities, with predominantly Mexican/Central American-origin counties at reduced risk and predominantly Caribbean-origin counties at greater risk. Higher incidence and improved survival are associated with European admixture in Hispanic patients.
Article
Oncology
Joshua D. Palmer, Rahul N. Prasad, Gino Cioffi, Carol Kruchtko, Nicholas G. Zaorsky, Daniel M. Trifiletti, Vinai Gondi, Paul D. Brown, Haley K. Perlow, Mark Mishra, Arnab Chakravarti, Jill S. Barnholtz-Sloan, Quinn T. Ostrom
Summary: This study suggests a potential association between exposure to high levels of particulate pollution and radon and increased incidence of non-malignant brain tumors. However, more research is needed to confirm these findings in other populations.
Article
Oncology
Quinn T. Ostrom, Madison L. Shoaf, Gino Cioffi, Kristin Waite, Carol Kruchko, Patrick Y. Wen, Daniel J. Brat, Jill S. Barnholtz-Sloan, J. Bryan Iorgulescu
Summary: This study utilized data from the U.S. National Cancer Database to estimate the national-level overall survival patterns of molecularly-defined diffuse gliomas. The findings demonstrate differences in survival rates among different glioma types, and the impact of WHO grade and MGMT promoter methylation on survival.
Article
Clinical Neurology
Corey Neff, Gino Cioffi, Kristin Waite, Carol Kruchko, Jill S. Barnholtz-Sloan, Quinn T. Ostrom, J. Bryan Iorgulescu
Summary: This study investigated the testing and reporting completeness of a newly developed brain molecular marker (BMM) in the US. The overall completeness was 81.1%, with variations among different subgroups and hospital attributes.
NEURO-ONCOLOGY PRACTICE
(2023)
Letter
Immunology
Marie-Josephe Horner, Rohan Hazra, Jill S. Barnholtz-Sloan, Meredith S. Shiels, Eric A. Engels
Summary: In utero exposure to didanosine was associated with increased risk of brain cancer in a French study. We used United States health department records to assess cancer risk among 13,617 children exposed to HIV in utero, who remained HIV-uninfected after birth (1990-2017). Risk of brain tumors was borderline elevated among these children (standardized incidence ratio 2.2, 95% confidence interval 0.8-4.8, P=0.12, based on six cases). Risk was not significantly increased for leukemia or other cancers.
Editorial Material
Oncology
Jill S. Barnholtz-Sloan
Article
Multidisciplinary Sciences
Nickolas Stabellini, Jennifer Cullen, Lifen Cao, John Shanahan, Nelson Hamerschlak, Kristin Waite, Jill S. Barnholtz-Sloan, Alberto J. Montero
Summary: The study aimed to analyze the differences in treatment patterns and treatment related adverse events in Non-Hispanic women with breast cancer based on race. The results showed that Non-Hispanic Black women were less likely to undergo surgery or receive endocrine therapy, but more likely to receive radiotherapy. They also had a higher risk of cognitive decline/dementia after treatment.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Nickolas Stabellini, Benjamin Tomlinson, Jennifer Cullen, John Shanahan, Kristin Waite, Alberto J. J. Montero, Jill S. S. Barnholtz-Sloan, Nelson Hamerschlak
Summary: This study conducted a comprehensive analysis of sex differences in acute myeloid leukemia (AML) and found that there are disparities in incidence and survival between males and females. Treatment and healthcare factors have important implications for survival rates.
Article
Oncology
Robin Taylor Wilson, Susan E. Safford, Quinn T. Ostrom, Ming Wang, Alicia C. McDonald, Anna C. Salzberg, Jill S. Barnholtz-Sloan, John P. Richie
Summary: In this cross-sectional study, little is known regarding factors associated with calcitriol and the calcitriol-24,25-dihydroxyvitamin D3-calcifediol proportion ratio (C24CPR). The study found that calcitriol and C24CPR were both significantly, positively, and monotonically associated with West African genetic ancestry proportion (WGA). These findings suggest that C24CPR may be more suitable for personalized medicine.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Oncology
Marisa Thierheimer, Gino Cioffi, Kristin A. A. Waite, Carol Kruchko, Quinn T. T. Ostrom, Jill S. S. Barnholtz-Sloan
Summary: This study examined mortality trends for primary malignant brain and other central nervous system tumors in the United States. The overall mortality rate showed a slight increase from 2004 to 2018, with the highest increase observed in Asian/Pacific Islander or American Indian/Alaskan Native populations. Age-specific mortality rates varied among different histopathology groupings, with glioblastoma showing a small increase in adults > 65 years old and other malignant gliomas declining in the same age group. Examining these trends can provide important information for clinicians, researchers, and public health planning.
JOURNAL OF NEURO-ONCOLOGY
(2023)
Article
Oncology
Justin M. Barnes, Corey Neff, Xuesong Han, Carol Kruchko, Jill S. Barnholtz-Sloan, Quinn T. Ostrom, Kimberly J. Johnson
Summary: Medicaid expansion is associated with improved access to care in children with cancer and a 1.50 percentage point increase in 2-year overall survival after 2014 in expansion states compared to nonexpansion states. The impact is particularly significant for children living in the lowest county income quartile, with a 5.12 percentage point increase in survival.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Oncology
John R. Bihn, Gino Cioffi, Kristin A. Waite, Carol Kruchko, Corey Neff, Mackenzie Price, Quinn T. Ostrom, Kaitlin N. Swinnerton, Danne C. Elbers, Michael A. Mooney, Jacob Rachlin, Thor D. Stein, Mary T. Brophy, Nhan Do, Ryan E. Ferguson, David S. Priemer, Daniel P. Perl, Richard A. Hickman, Burt Nabors, Jennifer Rusiecki, Jill S. Barnholtz-Sloan, Nathanael R. Fillmore
Summary: This study provides comprehensive analysis of brain tumor incidence and survival in the Veteran population, revealing differences in comparison to the overall US population. Nonmalignant tumors are more common among Veterans, and survival outcomes worsen with age.
Article
Oncology
Kristin A. Waite, Peter J. Pronovost, Jill S. Barnholtz-Sloan
Summary: Trans-disciplinary science is crucial for understanding cancer development, progression, and treatment. Transitioning from an independent researcher to a leader or productive member of a scientific team requires focusing on key elements such as team selection, communication, leadership, shared goals, team responsibility, authorship, and conflict resolution.
Article
Clinical Neurology
Mackenzie Price, Katherine Ryan, Madison L. Shoaf, Corey Neff, J. Bryan Iorgulescu, Daniel B. Landi, Gino Cioffi, Kristin A. Waite, Carol Kruchko, Jill S. Barnholtz-Sloan, Quinn T. Ostrom
Summary: This report summarizes the latest population-based incidence, mortality, and survival data for primary brain and other CNS tumors in the US, aiming to serve as a concise resource for neuro-oncology providers.
NEURO-ONCOLOGY PRACTICE
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Charit Tippareddy, Louisa Onyewadume, Andrew E. Sloan, Gi-Ming Wang, Nirav T. Patil, Siyuan Hu, Jill S. Barnholtz-Sloan, Rasim Boyacioglu, Vikas Gulani, Jeffrey Sunshine, Mark Griswold, Dan Ma, Chaitra Badve
Summary: This study aimed to test the feasibility of using 3D MRF maps with radiomics analysis and machine learning in the characterization of adult brain intra-axial neoplasms. The results showed that MRF maps were able to differentiate tumors based on type, grade, and IDH1 status. Furthermore, the radiomics features of MRF maps can also characterize gliomas based on grade, IDH1 status, and survival.
EUROPEAN RADIOLOGY
(2023)