Article
Oncology
T. Ottone, G. Silvestrini, R. Piazza, S. Travaglini, C. Gurnari, F. Marchesi, A. M. Nardozza, E. Fabiani, E. Attardi, L. Guarnera, M. Divona, P. Ricci, M. A. Irno Consalvo, S. Ienzi, R. Arcese, A. Biagi, L. Fiori, M. Novello, A. Mauriello, A. Venditti, L. Anemona, M. T. Voso
Summary: By analyzing the transcriptome profile of AML patients, researchers found that TWIST1, ECM-receptor interaction, and focal-adhesion pathways were significantly deregulated. The study also showed that metformin can interfere with these processes.
Article
Endocrinology & Metabolism
Jiarui Li, Tianchang Tao, Yingying Yu, Ningda Xu, Wei Du, Mingwei Zhao, Zhengxuan Jiang, Lvzhen Huang
Summary: This study identified potential important pathways including hormone-related, metabolic, and Wnt signaling pathways in the pathology of pterygium development. Nine candidate genes were identified that deserve further study and may serve as potential therapeutic targets.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Medicine, Research & Experimental
Miao Zhang, Qing Li, Kai-Lin Wang, Yao Dong, Yu-Tong Mu, Yan-Min Cao, Jin Liu, Zi-Heng Li, Hui-Lu Cui, Hai-Yan Liu, An-Qun Hu, Ying-Jie Zheng
Summary: This study identified CNVRs and SNPs associated with GDM in Chinese women through genome-wide association study and case-cohort study. Nineteen candidate genes related to lipase, oxidoreductase, and beta-cell proliferation were mapped. These genes are involved in the biological mechanisms of lipolysis, redox reaction, and proliferation of islet beta-cells.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Review
Medicine, General & Internal
Carolina Aliai Micol Cavalli, Roberto Gabbiadini, Arianna Dal Buono, Alessandro Quadarella, Alessandro De Marco, Alessandro Repici, Cristina Bezzio, Edoardo Simonetta, Stefano Aliberti, Alessandro Armuzzi
Summary: Inflammatory bowel diseases (IBDs) are associated with respiratory diseases, even in the absence of symptoms. The same embryological origin and exposure to common antigens and cytokine networks may play a role in respiratory involvement. Early identification and treatment of respiratory manifestations are crucial to prevent lung damage.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Multidisciplinary Sciences
Helena R. R. Wells, Fatin N. Zainul Abidin, Maxim B. Freidin, Frances M. K. Williams, Sally J. Dawson
Summary: Tinnitus is a common condition with potential genetic components. A study found strong associations between RCOR1 gene and self-reported tinnitus, along with other genetic loci that may be linked to tinnitus.
SCIENTIFIC REPORTS
(2021)
Article
Biochemical Research Methods
Reyhan Sonmez Flitman, Bita Khalili, Zoltan Kutalik, Rico Rueedi, Anneke Bruemmer, Sven Bergmann
Summary: This study identified genes influencing human metabolite concentrations through metabolome-wide and transcriptome-wide association study. The findings highlighted potential causal relationships between gene expression and metabolite concentrations, with some genes showing significant associations with specific metabolites. Mendelian randomization analysis supported the causal links between gene expression and metabolite concentrations, while also revealing reverse causal effects in some cases. The integration of metabolomics, gene expression, and genetic data proved to be effective in pinpointing causal genes modulating metabolite concentrations.
JOURNAL OF PROTEOME RESEARCH
(2021)
Article
Biotechnology & Applied Microbiology
Valeria Lo Faro, Jacoline B. ten Brink, Harold Snieder, Nomdo M. Jansonius, Arthur A. Bergen
Summary: The study found a higher burden of CNVs in POAG cases compared to controls, with statistically significant CNVRs spanning 11 genes associated with POAG. Functional annotation and pathway analysis suggested the involvement of cadherin, Wnt signaling, and p53 pathways in POAG.
Article
Biochemistry & Molecular Biology
Qiandong Hou, Zhilang Qiu, Zhuang Wen, Huimin Zhang, Zhengchun Li, Yi Hong, Guang Qiao, Xiaopeng Wen
Summary: In this study, 16 ARF members were identified in the sweet cherry genome, revealing their role in plant growth, development, and fruit abscission. The genes are located in the nucleus, have similar exon-intron structures, and are categorized into different subgroups based on phylogenetic analysis. Additionally, the promoter sequences contain plant hormone-related elements and stress response elements, contributing to a comprehensive understanding of PavARF in sweet cherry fruits.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Shumin Li, Bin Yan, Thomas K. T. Li, Jianliang Lu, Yifan Gu, Yueqiu Tan, Fei Gong, Tak-Wah Lam, Pingyuan Xie, Yuexuan Wang, Ge Lin, Ruibang Luo
Summary: This study developed a pipeline for analyzing ultra-low-coverage whole genome sequencing (ulcWGS) data for genome-wide association study (GWAS). The accuracy of genotype imputation under ultra-low coverage was improved by increasing sample size and applying filters. The study identified 11 genomic risk loci associated with gestational ages and 166 genes mapped to these loci. The findings demonstrate the high accuracy of ulcWGS for genotype imputation and provide insights into genetic variations related to gestational age in the Chinese population.
Article
Ecology
Ricardo Godoy, Ana Mutis, Leonela Carabajal Paladino, Herbert Venthur
Summary: In this study, novel AOX gene families were identified in moths and butterflies to understand their role as ODEs. Molecular evolution analysis revealed slight changes in ODE-related AOXs through a purifying selection process, with some sites under positive selection.
FRONTIERS IN ECOLOGY AND EVOLUTION
(2022)
Article
Biochemistry & Molecular Biology
Canbin Chen, Fangfang Xie, Kamran Shah, Qingzhu Hua, Jiayi Chen, Zhike Zhang, Jietang Zhao, Guibing Hu, Yonghua Qin
Summary: This study reports the characterization and function of 70 WRKY genes in pitaya. It is found that HmoWRKY42 acts as a transcriptional repressor and regulates pitaya betalain biosynthesis by inhibiting the transcription of HmocDOPA5GT1. These findings provide a foundation for future research on the regulation and functions of the HuWRKY gene family.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Guirong Zhu, Xing Cui, Liwen Fan, Yongchu Pan, Lin Wang
Summary: Several genes associated with periodontitis have been identified, but known genes explain only a small percentage of the heritability. This study aimed to explore more susceptibility genes and the underlying mechanisms of periodontitis. A genome-wide meta-analysis and transcriptome-wide association studies were conducted, and a novel susceptibility gene EZH1 was identified. EZH1 was upregulated in periodontitis-affected gingival tissues, and its co-expression genes were enriched in important pathways. These findings provide a fundamental clue for understanding the genetic mechanisms of periodontitis.
Article
Cardiac & Cardiovascular Systems
Anni A. Antikainen, Niina Sandholm, David-Alexandre Tregouet, Romain Charmet, Amy Jayne McKnight, Tarunveer S. Ahluwalia, Anna Syreeni, Erkka Valo, Carol Forsblom, Daniel Gordin, Valma Harjutsalo, Samy Hadjadj, Alexander P. Maxwell, Peter Rossing, Per-Henrik Groop
Summary: This study aimed to identify genetic loci increasing coronary artery disease (CAD) susceptibility in individuals with type 1 diabetes (T1D). Two loci, CDKN2B-AS1 and DEFB127, were found to be significantly associated with CAD in T1D individuals. Additionally, the study explored the function of other genetic loci and found that general population risk variants were modestly but significantly associated with CAD in T1D.
CARDIOVASCULAR RESEARCH
(2021)
Article
Cell Biology
Paul J. Hop, Ramona A. J. Zwamborn, Eilis Hannon, Gemma L. Shireby, Marta F. Nabais, Emma M. Walker, Wouter van Rheenen, Joke J. F. A. van Vugt, Annelot M. Dekker, Henk-Jan Westeneng, Gijs H. P. Tazelaar, Kristel R. van Eijk, Matthieu Moisse, Denis Baird, Ahmad Al Khleifat, Alfredo Iacoangeli, Nicola Ticozzi, Antonia Ratti, Jonathan Cooper-Knock, Karen E. Morrison, Pamela J. Shaw, A. Nazli Basak, Adriano Chio, Andrea Calvo, Cristina Moglia, Antonio Canosa, Maura Brunetti, Maurizio Grassano, Marc Gotkine, Yossef Lerner, Michal Zabari, Patrick Vourc'h, Philippe Corcia, Philippe Couratier, Jesus S. Mora Pardina, Teresa Salas, Patrick Dion, Jay P. Ross, Robert D. Henderson, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Garth Nicholson, Dominic B. Rowe, Roger Pamphlett, Karen A. Mather, Perminder S. Sachdev, Sarah Furlong, Fleur C. Garton, Anjali K. Henders, Tian Lin, Shyuan T. Ngo, Frederik J. Steyn, Leanne Wallace, Kelly L. Williams, Miguel Mitne Neto, Ruben J. Cauchi, Ian P. Blair, Matthew C. Kiernan, Vivian Drory, Monica Povedano, Mamede de Carvalho, Susana Pinto, Markus Weber, Guy A. Rouleau, Vincenzo Silani, John E. Landers, Christopher E. Shaw, Peter M. Andersen, Allan F. McRae, Michael A. van Es, R. Jeroen Pasterkamp, Naomi R. Wray, Russell L. McLaughlin, Orla Hardiman, Kevin P. Kenna, Ellen Tsai, Heiko Runz, Ammar Al-Chalabi, Leonard H. van den Berg, Philip Van Damme, Jonathan Mill, Jan H. Veldink
Summary: This study conducted a blood-based epigenome-wide association study meta-analysis and identified differentially methylated positions (DMPs) and genes associated with ALS. The study also found independent associations between ALS and high-density lipoprotein cholesterol, body mass index, white blood cell proportions, and alcohol intake, with cholesterol biosynthesis potentially causally related to ALS. Additionally, DNA methylation at several DMPs and blood cell proportion estimates were associated with survival rate in patients.
SCIENCE TRANSLATIONAL MEDICINE
(2022)
Article
Multidisciplinary Sciences
Ruth Chia, Sara Saez-Atienzar, Natalie Murphy, Adriano Chio, Cornelis Blauwendraat, Ricardo H. Roda, Pentti J. Tienari, Henry J. Kaminski, Roberta Ricciardi, Melania Guida, Anna De Rosa, Loredana Petrucci, Amelia Evoli, Carlo Provenzano, Daniel B. Drachman, Bryan J. Traynor
Summary: This study identified genetic risk loci associated with myasthenia gravis through a genome-wide association study and demonstrated different genetic risk factors between early-onset and late-onset cases. Genetic correlation analysis also revealed a genetic link between myasthenia gravis and other autoimmune diseases.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Obstetrics & Gynecology
Jaroslav Stranik, Marian Kacerovsky, Peter Vescicik, Tomas Faist, Bo Jacobsson, Ivana Musilova
Summary: Intra-amniotic administration of infectious and/or inflammatory agents in rodents can be a useful method to create a model of intra-amniotic inflammation associated with preterm delivery. Different techniques, such as direct surgery and ultrasound-guided puncture, have been used in recent studies. The choice of triggering agents may have varying effects on intra-amniotic inflammation/infection and preterm delivery outcomes in rodent models.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Obstetrics & Gynecology
Maria Hallingstrom, Malin Barman, Otto Savolainen, Felicia Viklund, Marian Kacerovsky, Carl Brunius, Bo Jacobsson
Summary: This study investigated the association between metabolomic profiles of mid-trimester amniotic fluid and spontaneous preterm delivery, as well as gestational duration at delivery. The study also aimed to replicate previously reported metabolic biomarkers of spontaneous preterm delivery. The results showed that there was no association between the metabolomic profiles of mid-trimester amniotic fluid and spontaneous preterm delivery or gestational duration at delivery in this cohort.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Obstetrics & Gynecology
Marian Kacerovsky, Magdalena Holeckova, Martin Stepan, Miroslav Gregor, Peter Vescicik, Daniel Lesko, Hana Burckova, Lenka Pliskova, Radka Bolehovska, Ctirad Andrys, Bo Jacobsson, Ivana Musilova
Summary: This study investigated the amniotic fluid glucose levels in pregnant women with preterm prelabor rupture of membranes (PPROM) and its association with intra-amniotic inflammation. The results showed that the presence of intra-amniotic inflammation was associated with lower amniotic fluid glucose levels. A concentration of 10 mg/dL was identified as the optimal level for identifying intra-amniotic inflammation in PPROM pregnancies.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Medicine, General & Internal
Johanna Wiik, Cecilia Karrberg, Staffan Nilsson, Bjorn Strander, Bo Jacobsson, Verena Sengpiel
Summary: This study reveals that excisional treatment of cervical intraepithelial neoplasia (CIN) is associated with increased risk of preterm delivery, especially with larger cone lengths. Clinicians should aim to remove all CIN while preserving healthy cervical tissue in women of reproductive age.
Article
Statistics & Probability
Julius Juodakis, Stephen Marsland
Summary: This study addresses the detection and estimation issues of epidemic changes and background nuisance changes in time series problems. A new efficient approach is developed to simultaneously detect epidemic changes and accurately estimate the unknown background level by penalized cost. A two-level detector is built to model and separate nuisance and signal changes. The proposed methods are demonstrated to achieve accurate estimation of changepoints under nuisance processes in simulations and real-world datasets.
STATISTICAL PAPERS
(2023)
Article
Ecology
Julius Juodakis, Stephen Marsland
Summary: Sound recordings play an important role in ecological studies, including wildlife monitoring. However, current methods for automatic detection of sound events are impacted by wind, causing transient intensity peaks. In this study, researchers propose a method that estimates transient noise level using short-term spectrum models and combines it with log-spectral subtraction to stabilize background level. The proposed method improves denoising capabilities and detection accuracy, making it particularly attractive for rare species detection and soundscape analysis.
METHODS IN ECOLOGY AND EVOLUTION
(2022)
Article
Endocrinology & Metabolism
Kjersti Kvernebo Sunnergren, Jovanna Dahlgren, Ann-Katrine Karlsson, Staffan Nilsson, Kerstin Allvin, Carina Ankarberg-Lindgren
Summary: This study found that lower birth weight was associated with increased sex hormone concentrations during childhood. Weight gain after birth was positively correlated with sex hormone concentrations.
CLINICAL ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Julius Juodakis, Karin Ytterberg, Christopher Flatley, Pol Sole-Navais, Bo Jacobsson
Summary: Preterm birth is a global burden to neonatal health, influenced by genetics. This study investigates the timing and clinical importance of genes associated with gestational duration or preterm birth using genotyping data from the Norwegian Mother, Father and Child cohort. The research identifies several known maternal associations and a new fetal variant and demonstrates that the interpretation of results is complicated by dichotomization. Flexible survival models reveal that many known loci have time-varying effects, especially in early pregnancy, and suggest the involvement of major histocompatibility complex genes in very preterm births. These findings highlight the clinical relevance of gestational duration loci and inform future experimental studies.
HUMAN MOLECULAR GENETICS
(2023)
Article
Genetics & Heredity
Pol Sole-Navais, Christopher Flatley, Valgerdur L. Steinthorsdottir, Marc Vaudel, Julius Juodakis, Jing Chen, Triin Laisk, Abigail C. LaBella, David Westergaard, Jonas Bacelis, Ben Brumpton, Line Skotte, Maria Borges, Oyvind A. Helgeland, Anubha Mahajan, Matthias N. Wielscher, Frederick P. Lin, Catherine Briggs, Carol Wang, Gunn-Helen E. Moen, Robin R. Beaumont, Jonathan Bradfield, Abin A. Abraham, Gudmar Thorleifsson, Maiken Gabrielsen, Sisse Ostrowski, Dominika Modzelewska, Ellen M. Nohr, Elina Hypponen, Amit M. Srivastava, Octavious Talbot, Catherine Allard, Scott Williams, Ramkumar Menon, Beverley Shields, Gardar Sveinbjornsson, Huan B. Xu, Mads F. Melbye, William Lowe, Luigi Bouchard, Emily I. Oken, Ole I. Pedersen, Daniel T. Gudbjartsson, Christian Erikstrup, Erik Sorensen, Rolv Lie, Kari Teramo, Mikko T. Hallman, Thorhildur Juliusdottir, Hakon Hakonarson, Henrik L. Ullum, Andrew Hattersley, Line Sletner, Mario Merialdi, Sheryl Rifas-Shiman, Thora Steingrimsdottir, Denise A. Scholtens, Christine H. Power, Jane West, Mette A. Nyegaard, John Capra, Anne Skogholt, Per Magnus, Ole E. Andreassen, Unnur Thorsteinsdottir, Struan F. A. M. Grant, Elisabeth Qvigstad, Craig I. Pennell, Marie-France A. Hivert, Geoffrey M. Hayes, Marjo-Riitta Jarvelin, Mark I. McCarthy, Deborah Lawlor, Henriette Nielsen, Reedik Maegi, Antonis Rokas, Kristian Hveem, Kari J. Stefansson, Bjarke M. Feenstra, Pal Njolstad, Louis Muglia, Rachel Freathy, Stefan Johanson, Ge Zhang, Bo Jacobsson
Summary: The study conducted a meta-analysis and identified genetic variants associated with gestational duration and preterm delivery. It revealed the importance of maternal alleles in influencing gestational duration and the complex relationship between gestational duration and birth weight. The study also identified antagonistic pleiotropy, where maternal alleles that increase gestational duration have negative effects on birth weight.
Correction
Genetics & Heredity
Pol Sole-Navais, Christopher Flatley, Valgerdur L. Steinthorsdottir, Marc Vaudel, Julius Juodakis, Jing Chen, Triin Laisk, Abigail C. LaBella, David Westergaard, Jonas Bacelis, Ben Brumpton, Line Skotte, Maria Borges, Oyvind A. Helgeland, Anubha Mahajan, Matthias N. Wielscher, Frederick P. Lin, Catherine Briggs, Carol Wang, Gunn-Helen E. Moen, Robin R. Beaumont, Jonathan Bradfield, Abin A. Abraham, Gudmar Thorleifsson, Maiken Gabrielsen, Sisse Ostrowski, Dominika Modzelewska, Ellen M. Nohr, Elina Hypponen, Amit M. Srivastava, Octavious Talbot, Catherine Allard, Scott Williams, Ramkumar Menon, Beverley Shields, Gardar Sveinbjornsson, Huan B. Xu, Mads F. Melbye, William Lowe Jr, Luigi Bouchard, Emily I. Oken, Ole I. Pedersen, Daniel T. Gudbjartsson, Christian Erikstrup, Erik Sorensen, Rolv Lie, Kari Teramo, Mikko T. Hallman, Thorhildur Juliusdottir, Hakon Hakonarson, Henrik L. Ullum, Andrew Hattersley, Line Sletner, Mario Merialdi, Sheryl Rifas-Shiman, Thora Steingrimsdottir, Denise A. Scholtens, Christine H. Power, Jane West, Mette A. Nyegaard, John Capra, Anne Skogholt, Per Magnus, Ole E. Andreassen, Unnur Thorsteinsdottir, Struan F. A. M. Grant, Elisabeth Qvigstad, Craig I. Pennell, Marie-France A. Hivert, Geoffrey S. Hayes, Marjo-Riitta Jarvelin, Mark I. McCarthy, Deborah Lawlor, Henriette Nielsen, Reedik Magi, Antonis Rokas, Kristian Hveem, Kari J. Stefansson, Bjarke M. Feenstra, Pal Njolstad, Louis Muglia, Rachel Freathy, Stefan Johansson, Ge Zhang, Bo Jacobsson
Review
Medicine, General & Internal
Ulla-Britt Wennerholm, Lina Bergman, Pihla Kuusela, Elin Ljungstrom, Anna C. Moller, Cecilie Hongslo Vala, Ann-Catrin Ekelund, Ann Liljegren, Max Petzold, Petteri Sjogren, Mikael Svensson, Annika Strandell, Bo Jacobsson
Summary: This systematic review examined randomized controlled trials on the prevention of preterm birth in asymptomatic women. It found that progesterone and cerclage can reduce the risk of preterm birth in singleton pregnancies, while pessary and acetylsalicylic acid have limited effectiveness. Screening programs are necessary to identify women at risk of preterm birth.
FRONTIERS IN MEDICINE
(2023)
Article
Endocrinology & Metabolism
Oyvind Helgeland, Marc Vaudel, Pol Sole-Navais, Christopher Flatley, Julius Juodakis, Jonas Bacelis, Ingvild L. Koloen, Gun Peggy Knudsen, Bente B. Johansson, Per Magnus, Ted Reichborn Kjennerud, Petur B. Juliusson, Camilla Stoltenberg, Oddgeir L. Holmen, Ole A. Andreassen, Bo Jacobsson, Pal R. Njolstad, Stefan Johansson
Summary: This study characterizes genetic loci associated with early childhood body mass index, highlighting the roles of genes involved in monogenic obesity, appetite regulation, and energy expenditure. The study identifies 46 loci associated with early childhood body mass index at different ages and represents four major growth patterns. The findings provide insights into the genetic factors influencing early childhood growth and suggest potential treatment strategies.
