Article
Multidisciplinary Sciences
Zhaozhong Zhu, Yijun Li, Robert J. Freishtat, Juan C. Celedon, Janice A. Espinola, Brennan Harmon, Andrea Hahn, Carlos A. Camargo, Liming Liang, Kohei Hasegawa
Summary: This study investigates the role of DNA methylation in the severity of bronchiolitis in infants. The authors analyze blood DNA methylation data from hospitalized infants and identify differentially methylated CpGs associated with disease severity. These CpGs are found to be differentially methylated in blood immune cells and enriched in various tissues, cells, and pathways. Additionally, they are also associated with respiratory and immune traits. The study highlights the importance of DNA methylation in understanding the pathobiology of bronchiolitis and its severity.
NATURE COMMUNICATIONS
(2023)
Article
Geriatrics & Gerontology
Elie Antoun, Emma S. Garratt, Andrea Taddei, Mark A. Burton, Sheila J. Barton, Phil Titcombe, Leo D. Westbury, Alicia Baczynska, Eugenia Migliavacca, Jerome N. Feige, Holly E. Sydall, Elaine Dennison, Richard Dodds, Helen C. Roberts, Peter Richardson, Avan A. Sayer, Sarah Shaw, Cyrus Cooper, Joanna D. Holbrook, Harnish P. Patel, Keith M. Godfrey, Karen A. Lillycrop
Summary: This study found that differences in muscle methylome are associated with sarcopenia and individual measures of muscle mass, strength, and function in older individuals, suggesting that changes in epigenetic regulation of genes may contribute to impaired muscle function in later life.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Medicine, General & Internal
Manuel Castro de Moura, Veronica Davalos, Laura Planas-Serra, Damiana Alvarez-Errico, Carles Arribas, Montserrat Ruiz, Sergio Aguilera-Albesa, Jesus Troya, Juan Valencia-Ramos, Valentina Velez-Santamaria, Agusti Rodriguez-Palmero, Judit Villar-Garcia, Juan P. Horcajada, Sergiu Albu, Carlos Casasnovas, Anna Rull, Laia Reverte, Beatriz Dietl, David Dalmau, Maria J. Arranz, Laia Llucia-Carol, Anna M. Planas, Jordi Perez-Tur, Israel Fernandez-Cadenas, Paula Villares, Jair Tenorio, Roger Colobran, Andrea Martin-Nalda, Pere Soler-Palacin, Francesc Vidal, Aurora Pujol, Manel Esteller
Summary: An epigenome-wide association study identified 44 CpG sites associated with the clinical severity of COVID-19, with some located in genes involved in interferon response to viral infection. A DNA methylation signature (EPICOVID) was established and could be useful in the clinical management of SARS-CoV-2 infected patients when combined with other factors.
Article
Multidisciplinary Sciences
Andres Cardenas, Simone Ecker, Raj P. Fadadu, Karen Huen, Allan Orozco, Lisa M. McEwen, Hannah-Ruth Engelbrecht, Nicole Gladish, Michael S. Kobor, Luis Rosero-Bixby, William H. Dow, David H. Rehkopf
Summary: This study evaluated smoking-associated DNA methylation signatures in the Nicoya region and found abnormal epigenetic aging and telomere length in former smokers.
SCIENTIFIC REPORTS
(2022)
Article
Environmental Sciences
Rongbin Xu, Shuai Li, Shanshan Li, Ee Ming Wong, Melissa C. Southey, John L. Hopper, Michael J. Abramson, Yuming Guo
Summary: The study found associations between surrounding greenness and blood DNA methylation, which could be modified by genetic variations.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Environmental Sciences
Zainab Awada, Vincent Cahais, Cyrille Cuenin, Reem Akika, Anna Luiza Silva Almeida Vicente, Maha Makki, Hani Tamim, Zdenko Herceg, Nathalie Khoueiry Zgheib, Akram Ghantous
Summary: Waterpipe smoking is common in the Middle East and Africa, and this study investigates the epigenetic markers of waterpipe smokers and their role in addiction. The researchers found distinct epigenetic markers in waterpipe smokers compared to cigarette smokers and were able to accurately predict the type of smoking based on DNA methylation patterns. These markers offer potential targets for reversing the epigenetic memory of addiction and guiding prevention strategies for tobacco smoking.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Biochemistry & Molecular Biology
Miruna Carmen Barbu, Mat Harris, Xueyi Shen, Stolicyn Aleks, Claire Green, Carmen Amador, Rosie Walker, Stewart Morris, Mark Adams, Anca Sandu, Christopher McNeil, Gordon Waiter, Kathryn Evans, Archie Campbell, Joanna Wardlaw, Douglas Steele, Alison Murray, David Porteous, Andrew McIntosh, Heather Whalley
Summary: Genetic and environmental factors influence brain structural changes, and epigenome-wide association studies can provide insights into brain health and disease mechanisms. EWAS using whole blood DNA methylation data identified CpG sites associated with global brain volumes at baseline and concurrent assessments.
Article
Oncology
Felix P. Chilunga, Karlijn A. C. Meeks, Peter Henneman, Charles Agyemang, Ayo P. Doumatey, Charles N. Rotimi, Adebowale A. Adeyemo
Summary: This study utilized DNA methylation profiles of African American individuals to identify differentially methylated positions associated with insulin resistance. Two of the identified positions have not been reported in other populations. The findings suggest significant differences in DNA methylation patterns across different population groups.
CLINICAL EPIGENETICS
(2022)
Article
Oncology
Jochen Kruppa, Miriam Sieg, Gesa Richter, Anne Pohrt
Summary: In DNA methylation analysis, M-values can be used for statistical analysis while Beta-values are more suitable for reporting, though correction may be needed when confounder effects are present. Different frameworks for reporting estimands in DNA methylation analysis are proposed, with careful evaluation needed for hyper- or hypomethylated CpG sites.
CLINICAL EPIGENETICS
(2021)
Article
Oncology
Hao Peng, Helena Palma-Gudiel, Carolina Soriano-Tarraga, Jordi Jimenez-Conde, Mingzhi Zhang, Yonghong Zhang, Jinying Zhao
Summary: Altered DNA methylation of TRIM6, FLRT2, SOX1, SOX17, AGBL4, and FAM84A genes (increased) and TLN2 gene (decreased) were found to be associated with ischemic stroke in Chinese populations. Experimental evidence suggests these genes may be involved in endothelial cell adhesion and atherosclerosis.
CLINICAL EPIGENETICS
(2023)
Article
Hematology
Natalia Cullell, Carolina Soriano-Tarraga, Cristina Gallego-Fabrega, Jara Carcel-Marquez, Nuria P. Torres-Aguila, Elena Muino, Miquel Lledos, Laia Llucia-Carol, Manel Esteller, Manuel Castro de Moura, Joan Montaner, Alba Fernandez-Sanles, Roberto Elosua, Pilar Delgado, Joan Marti-Fabregas, Jerzy Krupinski, Jaume Roquer, Jordi Jimenez-Conde, Israel Fernandez-Cadenas
Summary: This study evaluates DNA methylation association with ischemic stroke (IS) using epigenome-wide association studies (EWAS). The results suggest that specific DNA methylation patterns are causally associated with IS risk and different stroke subtypes.
THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Endocrinology & Metabolism
Mickael Canouil, Amna Khamis, Elina Keikkala, Sandra Hummel, Stephane Lobbens, Amelie Bonnefond, Fabien Delahaye, Evangelia Tzala, Sanna Mustaniemi, Marja Vaarasmaki, Marjo-Riitta Jarvelin, Sylvain Sebert, Eero Kajantie, Philippe Froguel, Toby Andrew
Summary: This study did not find shared epigenetic effects between mothers and offspring from GDM exposure. However, a significant CpG at the cg22790973 probe (TFCP2) associated with GDM was identified, along with seven additional FDR-significant interactions of maternal methylation and GDM status, suggesting a potential complexity in the epigenetic transmission from mothers with GDM to their offspring.
Article
Engineering, Environmental
Xiyang Cai, Kaixuan Li, Xia Meng, Qinglin Song, Su Shi, Wenran Li, Yue Niu, Li Jin, Haidong Kan, Sijia Wang
Summary: This study is the first epigenome-wide association study on ozone exposure conducted in a large-scale Han Chinese cohort. The study identified DNA methylation changes on CpGs and regions, as well as related gene functions and pathways.
JOURNAL OF HAZARDOUS MATERIALS
(2024)
Article
Environmental Sciences
Paulina Jedynak, Jorg Tost, Antonia M. Calafat, Ekaterina Bourova-Flin, Lucile Broseus, Florence Busato, Anne Forhan, Barbara Heude, Milan Jakobi, Joel Schwartz, Remy Slama, Daniel Vaiman, Johanna Lepeule, Claire Philippat
Summary: This study is the first to describe genome-wide modifications of placental DNA methylation in association with pregnancy exposure to phthalates. The results suggest that exposure to phthalates could affect fetal development through epigenetic mechanisms. Several differentially methylated regions associated with phthalate exposure were identified.
ENVIRONMENT INTERNATIONAL
(2022)
Article
Neurosciences
Maren Stolp Andersen, Ingvild Sorum Leikfoss, Ina Skaara Brorson, Chiara Cappelletti, Conceicao Bettencourt, Mathias Toft, Lasse Pihlstrom
Summary: Understanding the contribution of immune mechanisms to Parkinson's disease pathogenesis is important for potential therapeutic implications. This study investigated epigenome-wide DNA methylation in different peripheral immune cell types and identified differential methylation patterns in CD14+ monocytes and CD8+ T cells. Methylation changes upstream of RAB32, a gene linked to LRRK2, were found in monocytes and correlated negatively with mRNA expression.
NPJ PARKINSONS DISEASE
(2023)
Article
Environmental Sciences
Sarah Thomson, Katherine Drummond, Martin O'Hely, Christos Symeonides, Chitra Chandran, Toby Mansell, Richard Saffery, Peter Sly, Jochen Mueller, Peter Vuillermin, Anne-Louise Ponsonby
Summary: This study investigated whether maternal and child central carbon metabolism is involved in the development of autism spectrum disorder (ASD). They found that higher prenatal levels of di-(2-ethylhexyl) phthalate (DEHP) were associated with upregulation of maternal non-oxidative energy metabolism pathways and increased ASD symptoms in children at 2 and 4 years of age.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Cardiac & Cardiovascular Systems
Ahmed Elhakeem, Amy E. Taylor, Hazel M. Inskip, Jonathan Y. Huang, Toby Mansell, Carina Rodrigues, Federica Asta, Sophia M. Blaauwendraad, Siri E. Haberg, Jane Halliday, Margreet W. Harskamp-van Ginkel, Jian-Rong He, Vincent W. V. Jaddoe, Sharon Lewis, Gillian M. Maher, Yannis Manios, Fergus P. McCarthy, Irwin K. M. Reiss, Franca Rusconi, Theodosia Salika, Muriel Tafflet, Xiu Qiu, Bjorn O. Asvold, David Burgner, Jerry K. Y. Chan, Luigi Gagliardi, Romy Gaillard, Barbara Heude, Maria C. Magnus, George Moschonis, Deirdre Murray, Scott M. Nelson, Daniela Porta, Richard Saffery, Henrique Barros, Johan G. Eriksson, Tanja G. M. Vrijkotte, Deborah A. Lawlor
Summary: This study aimed to examine the associations of assisted reproductive technology (ART) conception with offspring cardiometabolic health outcomes and whether these associations differ with age. The researchers found small and statistically non-significant differences in offspring cardiometabolic outcomes between ART-conceived and naturally conceived offspring. The study concluded that these findings should reassure individuals receiving ART, but longer-term follow-up is needed to investigate changes in the risks of hypertension, dyslipidaemia, and cardiovascular disease over adulthood.
EUROPEAN HEART JOURNAL
(2023)
Article
Otorhinolaryngology
Jing Wang, Katherine Lange, Valerie Sung, Angela Morgan, Richard Saffery, Melissa Wake
Summary: Although more than 200 genes have been associated with monogenic congenital hearing loss, the polygenic contribution to hearing decline across the life course remains largely unknown. This study found an association between polygenic risk scores for self-reported hearing difficulty among adults and measured hearing and speech reception abilities in mid-childhood and early midlife.
JAMA OTOLARYNGOLOGY-HEAD & NECK SURGERY
(2023)
Article
Oncology
Rachel Lloyd, Sarah Pirikahu, Jane Walter, Gemma Cadby, Ellie Darcey, Dilukshi Perera, Martha Hickey, Christobel Saunders, Karol Karnowski, David D. Sampson, John Shepherd, Lothar Lilge, Jennifer Stone
Summary: This study examines the acceptability and performance of two alternative breast density measures, Optical Breast Spectroscopy (OBS) and Dual X-ray Absorptiometry (DXA), in women aged 18-40. The results showed that over 93% of participants deemed OBS and DXA to be acceptable. The correlation between OBS-%water + collagen and %FGV was 0.48, and age and BMI were associated with breast density measures.
BRITISH JOURNAL OF CANCER
(2023)
Letter
Allergy
Jonathan Pham, Dinh S. Bui, Caroline J. Lodge, Michael J. Abramson, Adrian J. Lowe, Shuai Li, Aung K. Win, Mark Hew, Shyamali C. Dharmage
CLINICAL AND EXPERIMENTAL ALLERGY
(2023)
Article
Pediatrics
Li Wen, Huijia Fu, Richard Saffery, Chao Tong, Yamin Liu, Mark D. Kilby, Hongbo Qi, Philip N. Baker
Summary: This study measured the concentrations of adiponectin and leptin in the cord blood of monochorionic twins with selective intrauterine growth restriction (IUGR). The findings showed that cord blood adiponectin concentrations were negatively associated with IUGR, while cord blood leptin concentrations were significantly lower in IUGR twins. Furthermore, adiponectin was negatively associated with height increments in the first 6 months, and leptin was inversely associated with weight and height increments in the first 6 months, as well as weight and height at 6 and 24 months. These results indicate the influence of adiponectin and leptin in cord blood on IUGR and childhood growth trajectories.
Letter
Genetics & Heredity
Shua Li, John L. Hopper
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Medicine, General & Internal
Heran Wang, Robert J. MacInnis, Shuai Li
Summary: A systematic review found that Asian women with a family history of breast cancer have approximately double the risk compared to those without a family history, similar to women of European ancestry.
Article
Biochemistry & Molecular Biology
Cindy Pham, Sarah Thomson, Sung-Tong Chin, Peter Vuillermin, Martin O'Hely, David Burgner, Samuel Tanner, Richard Saffery, Toby Mansell, Sze Bong, Elaine Holmes, Peter D. Sly, Nicola Gray, Anne-Louise Ponsonby, Barwon Infant Study Invest Grp
Summary: Childhood mental disorders are becoming increasingly common, and higher maternal oxidative stress during pregnancy is linked to these disorders. Social and prenatal environmental factors contribute to maternal oxidative stress and childhood mental disorders. Future studies are needed to further understand the role of early-life oxidant damage in childhood mental disorders.
MOLECULAR PSYCHIATRY
(2023)
Article
Oncology
Pooja K. Middha, Xiaoliang Wang, Sabine Behrens, Manjeet K. Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J. Aronson, Paul L. Auer, Annelie Augustinsson, Thais Baert, Laura E. Beane Freeman, Heiko Becher, Matthias W. Beckmann, Javier Benitez, Stig E. Bojesen, Hiltrud Brauch, Hermann Brenner, Angela Brooks-Wilson, Daniele Campa, Federico Canzian, Angel Carracedo, Jose E. Castelao, Stephen J. Chanock, Georgia Chenevix-Trench, Emilie Cordina-Duverger, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Laure Dossus, Pierre-Antoine Dugue, A. Heather Eliassen, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine Figueroa, Olivia Fletcher, Henrik Flyger, Marike Gabrielson, Manuela Gago-Dominguez, Graham G. Giles, Anna Gonzalez-Neira, Felix Grassmann, Anne Grundy, Pascal Guenel, Christopher A. Haiman, Niclas Hakansson, Per Hall, Ute Hamann, Susan E. Hankinson, Elaine F. Harkness, Bernd Holleczek, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, David J. Hunter, Christian Ingvar, Karolin Isaksson, Helena Jernstroem, Esther M. John, Michael E. Jones, Rudolf Kaaks, Renske Keeman, Cari M. Kitahara, Yon-Dschun Ko, Stella Koutros, Allison W. Kurian, James V. Lacey, Diether Lambrechts, Nicole L. Larson, Susanna Larsson, Loic Le Marchand, Flavio Lejbkowicz, Shuai Li, Martha Linet, Jolanta Lissowska, Maria Elena Martinez, Tabea Maurer, Anna Marie Mulligan, Claire Mulot, Rachel A. Murphy, William G. Newman, Sune F. Nielsen, Borge G. Nordestgaard, Aaron Norman, Katie M. O'Brien, Janet E. Olson, Alpa V. Patel, Ross Prentice, Erika Rees-Punia, Gad Rennert, Valerie Rhenius, Kathryn J. Ruddy, Dale P. Sandler, Christopher G. Scott, Mitul T. Shah, Xiao-Ou Shu, Ann Smeets, Melissa C. Southey, Jennifer Stone, Rulla M. Tamimi, Jack A. Taylor, Lauren R. Teras, Katarzyna Tomczyk, Melissa A. Troester, Therese Truong, Celine M. Vachon, Sophia S. Wang, Clarice R. Weinberg, Hans Wildiers, Walter Willett, Stacey J. Winham, Alicja Wolk, Xiaohong Yang, M. Pilar Zamora, Wei Zheng, Argyrios Ziogas, Alison M. Dunning, Paul D. P. Pharoah, Montserrat Garcia-Closas, Marjanka K. Schmidt, Peter Kraft, Roger L. Milne, Sara Lindstroem, Douglas F. Easton, Jenny Chang-Claude
Summary: A genome-wide study identified two independent SNP-risk factor pairs associated with breast cancer risk and estrogen receptor positive (ER +) breast cancer risk. Overall, gene-environment interactions have a very small contribution to the heritability of breast cancer. At the population level, these interactions do not significantly contribute to risk prediction for breast cancer.
BREAST CANCER RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
David E. Godler, Yoshimi Inaba, Minh Q. Bui, David Francis, Cindy Skinner, Charles E. Schwartz, David J. Amor
Summary: This study characterizes the specific DNA methylation patterns of fragile X syndrome in blood and brain tissues, providing a novel avenue for the detection of the syndrome through DNA methylation analysis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Computer Science, Artificial Intelligence
Helen M. L. Frazer, Jennifer S. N. Tang, Michael S. Elliott, Katrina M. Kunicki, Brendan Hill, Ravishankar Karthik, Chun Fung Kwok, Carlos A. Pena-Solorzano, Yuanhong Chen, Chong Wang, Osamah Al-Qershi, Samantha K. Fox, Shuai Li, Enes Makalic, Tuong L. Nguyen, Daniel F. Schmidt, Prabhathi Basnayake Ralalage, Jocelyn F. Lippey, Peter Brotchie, John L. Hopper, Gustavo Carneiro, Davis J. McCarthy
Summary: This paragraph mentions a project supported by an Australian government grant that collaborated between the University of Melbourne and the University of Adelaide to improve breast cancer screening through the application of artificial intelligence technology. Additionally, the project received health investment funding from the Ramaciotti Foundation in Australia.
RADIOLOGY-ARTIFICIAL INTELLIGENCE
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Sing Ching Lee, Sarah Pirikahu, Lin Fritschi, Terry Boyle, Carl Schultz, Elizabeth Wylie, Jennifer Stone
Summary: This study examines the association between breast arterial calcification (BAC) and atherosclerotic cardiovascular disease (ASCVD) within an Australian population-based breast cancer study. The findings suggest that BAC is associated with ASCVD risk, but this association is not independent of other cardiovascular risk factors.
Article
Oncology
Zhoufeng Ye, Tuong L. Nguyen, Gillian S. Dite, Robert J. Macinnis, Daniel F. Schmidt, Enes Makalic, Osamah M. Al-Qershi, Minh Bui, Vivienne F. C. Esser, James G. Dowty, Ho N. Trinh, Christopher F. Evans, Maxine Tan, Joohon Sung, Mark A. Jenkins, Graham G. Giles, Melissa C. Southey, John L. Hopper, Shuai Li
Summary: This study investigates the causal relationships between mammogram risk scores based on texture and density, defined by different brightness thresholds, to determine their relevance to the etiology of breast cancer. The results suggest that lighter areas in mammograms have a causal effect on the brightest areas, and specific textural features capture independent information about breast cancer risk.
BREAST CANCER RESEARCH
(2023)