Article
Plant Sciences
Lovepreet Singh, Rajat Pruthi, Sandeep Chapagain, Prasanta K. Subudhi
Summary: Alkalinity stress is a major obstacle to rice production, and understanding the mechanisms of alkalinity tolerance is limited. A genome-wide association study was conducted to identify tolerant genotypes and candidate genes for alkalinity tolerance in rice seedlings. Principal component analysis revealed the traits with the highest contributions to tolerance, and clustering analysis grouped the genotypes into different subgroups. Several significant SNPs associated with alkalinity tolerance were identified, as well as novel QTLs and candidate genes. These genomic and genetic resources are valuable for investigating alkalinity tolerance mechanisms and improving tolerance in rice.
Article
Plant Sciences
Qi Sun, Lei He, Lei Sun, Hai-Ying Xu, Ya-Qun Fu, Zheng-Yang Sun, Bao-Qing Zhu, Chang-Qing Duan, Qiu-Hong Pan
Summary: The gene VvGGPPS was found to play an important role in controlling the aroma compounds in grape berries, making it a potential target for molecular breeding of aromatic grape varieties.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Cell & Tissue Engineering
Y. Jia, X. Qi, M. Ma, S. Cheng, B. Cheng, C. Liang, X. Guo, F. Zhang
Summary: This study aimed to explore novel regulatory genetic variants associated with bone mineral density (BMD). Through an integrative analysis of BMD genome-wide association study and regulatory single nucleotide polymorphism (rSNP) annotation information, we identified 36 common genes associated with BMD, such as FAM3C, CCDC170, and SOX6. Additionally, multiple gene ontology terms related to BMD were detected. These findings support the implication of regulatory genetic variants in the development of osteoporosis.
BONE & JOINT RESEARCH
(2023)
Article
Environmental Sciences
Xinghai Zhu, Junhao Zhang, Xiujiang Hou, Pingping Liu, Jia Lv, Qiang Xing, Xiaoting Huang, Jingjie Hu, Zhenmin Bao
Summary: GWAS analysis revealed the genetic basis of shell color in bay scallops, identifying key SNPs mainly located on chromosome 7 and three candidate genes involved in shell pigmentation regulation. Gene expression analysis showed significant differences in the expression levels of candidate genes in mantle tissues of individuals with different shell colors, providing insights into the mechanism underlying shell color phenotype differences.
FRONTIERS IN MARINE SCIENCE
(2021)
Article
Clinical Neurology
Shogo Dofuku, Kyuto Sonehara, Satoru Miyawaki, Saori Sakaue, Hideaki Imai, Masahiro Shimizu, Hiroki Hongo, Yuki Shinya, Kenta Ohara, Yu Teranishi, Atsushi Okano, Hideaki Ono, Hirofumi Nakatomi, Akira Teraoka, Kenichi Yamamoto, Yuichi Maeda, Takuro Nii, Toshihiro Kishikawa, Ken Suzuki, Jun Hirata, Meiko Takahashi, Koichi Matsuda, Atsushi Kumanogoh, Fumihiko Matsuda, Yukinori Okada, Nobuhito Saito
Summary: This study conducted the first genome-wide association study (GWAS) of intracranial artery stenosis (ICAS) in a Japanese population. They identified a functional variant of RNF2J3, rs112735431, that was significantly associated with ICAS. Furthermore, they found that this variant was also associated with high blood pressure and angina.
TRANSLATIONAL STROKE RESEARCH
(2023)
Article
Agriculture, Dairy & Animal Science
Qixin Guo, Lan Huang, Yong Jiang, Zhixiu Wang, Yulin Bi, Guohong Chen, Hao Bai, Guobin Chang
Summary: Good feed efficiency is crucial for the economic output of the livestock and poultry industries. This study conducted a genome-wide association study to identify potential variants and genes associated with seven feed efficiency measures in ducks. The findings provide insights into the genetic mechanisms and genes involved in feed efficiency-related traits in ducks. Further investigations are warranted to validate these findings.
Article
Microbiology
You Zhou, Dike Jiang, Xueping Yao, Yan Luo, Zexiao Yang, Meishen Ren, Ge Zhang, Yuanyuan Yu, Aiping Lu, Yin Wang
Summary: Glaesserella parasuis is a gram-negative bacterium that causes fibrotic polyserositis and arthritis in pigs, significantly impacting the pig industry. The pan-genome of G. parasuis is open and shows differences in the core and accessory genomes as the number of genes increases. The genes associated with virulence and biofilm formation in G. parasuis are still unclear due to its diversity. Therefore, a pan-genome-wide association study (Pan-GWAS) was conducted on 121 strains of G. parasuis. The study revealed the core genome consists of 1,133 genes associated with cytoskeleton, virulence, and basic biological processes. The accessory genome contributes to the genetic diversity of G. parasuis. Furthermore, the study identified 142 genes associated with strong virulence traits and their involvement in metabolic pathways, signal pathways, and virulence factors for bacterial survival and biofilm formation. This research provides a foundation for further investigation into virulence and biofilm formation and offers potential targets for drug and vaccine development against G. parasuis.
FRONTIERS IN MICROBIOLOGY
(2023)
Article
Veterinary Sciences
Keon Kim, Jung Eun Song, Jae Beom Joo, Hyeon A. Park, Chang Hyeon Choi, Chang Yun Je, Ock Kyu Kim, Sin Wook Park, Yoon Jung Do, Tai-Young Hur, Sang-Ik Park, Chang-Min Lee
Summary: This study conducted a GWAS analysis to investigate the genetic predisposition to mammary gland tumors (MGT) in Maltese dogs. Several significant SNPs associated with MGT phenotype were identified, providing a basis for further research on the genetic predisposition to MGTs in Maltese dogs.
FRONTIERS IN VETERINARY SCIENCE
(2023)
Article
Clinical Neurology
Line Skotte, Joao Fadista, Jonas Bybjerg-Grauholm, Vivek Appadurai, Michael S. Hildebrand, Thomas F. Hansen, Karina Banasik, Jakob Grove, Clara Albinana, Frank Geller, Carmen F. Bjurstrom, Bjarni J. Vilhjalmsson, Matthew Coleman, John A. Damiano, Rosemary Burgess, Ingrid E. Scheffer, Ole Birger Vesterager Pedersen, Christian Erikstrup, David Westergaard, Kaspar Rene Nielsen, Erik Sorensen, Mie Topholm Bruun, Xueping Liu, Henrik Hjalgrim, Tune H. Pers, Preben Bo Mortensen, Ole Mors, Merete Nordentoft, Julie W. Dreier, Anders D. Borglum, Jakob Christensen, David M. Hougaard, Alfonso Buil, Anders Hviid, Mads Melbye, Henrik Ullum, Samuel F. Berkovic, Thomas Werge, Bjarke Feenstra
Summary: This study conducted a genome-wide association study of febrile seizures and discovered seven new loci, as well as confirmed four previously reported loci, all related to genes associated with central fever response, neuronal excitability, and epilepsy. The findings also showed positive genetic correlations with epilepsy and a lower polygenic risk in febrile seizure patients with neuropsychiatric disease.
Article
Fisheries
W. K. M. Omeka, D. S. Liyanage, Sukkyoung Lee, Chaehyeon Lim, Hyerim Yang, W. M. Gayashani Sandamalika, H. M. V. Udayantha, Gaeun Kim, Subothini Ganeshalingam, Taehyug Jeong, Seong-Rip Oh, Seung-Hwan Won, Hyoung-Bum Koh, Mun-Kwan Kim, David B. Jones, Cecile Massault, Dean R. Jerry, Jehee Lee
Summary: Traits linked to growth performance in farmed fish are important for profitability in aquaculture. A genome-wide association study (GWAS) on olive flounder identified several single nucleotide polymorphisms (SNPs) associated with growth traits. These findings contribute to understanding the molecular basis of growth regulation and promote the use of SNP-based genomic selection in flounder culture.
Article
Veterinary Sciences
Peyman Mahmoudi, Amir Rashidi, Anahit Nazari-Ghadikolaei, Jalal Rostamzadeh, Mohammad Razmkabir, Heather Jay Huson
Summary: The Markhoz goat, a breed known for its high-quality mohair, has experienced a significant decline in population size in Iran due to decreased income from goat production. This study aimed to identify genomic regions associated with litter size at birth (LSB) and weaning (LSW) in Markhoz goats using a genome-wide association study (GWAS). The results identified several SNPs on chromosomes 2, 20, and 21 that were significantly associated with LSB, and six candidate genes in the identified region were also identified.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Article
Dentistry, Oral Surgery & Medicine
Liwen Fan, Lan Ma, Guirong Zhu, Siyue Yao, Xiaofeng Li, Xin Yu, Yongchu Pan, Lin Wang
Summary: Our GWAS study identified chromosome 2 variants, including rs147680216, as well as three novel susceptibility loci, associated with the risk of premolar agenesis in the Chinese population.
Article
Agriculture, Dairy & Animal Science
Bowen Gu, Ruifan Sun, Xingqiang Fang, Jipan Zhang, Zhongquan Zhao, Deli Huang, Yuanping Zhao, Yongju Zhao
Summary: This study conducted a genome-wide association study on a Chinese indigenous goat breed, Dazu black goats, to identify the genetic variants associated with body conformation traits. A total of 53 significant single nucleotide polymorphisms and 42 candidate genes were detected. These findings have practical applications for genetic improvement and economic benefits in the goat meat industry.
Article
Medicine, General & Internal
Hyun-Ju An, Jae-Hwa Kim, Siyeong Yoon, Junwon Choi, Jeongmo Koo, Soonchul Lee
Summary: This study aimed to identify specific genes or genetic variants associated with rotator cuff tears through a genome-wide association study. More than 20 significantly associated SNPs were found. However, the study was limited by the small sample size and requires further validation. Nevertheless, the identification of potential genetic variants related to rotator cuff injury would aid in the early detection of individuals at risk and provide insight into future gene therapies.
Article
Cardiac & Cardiovascular Systems
Ling Li, Zhifen Chen, Moritz von Scheidt, Shuangyue Li, Andrea Steiner, Ulrich Gueldener, Simon Koplev, Angela Ma, Ke Hao, Calvin Pan, Aldons J. Lusis, Shichao Pang, Thorsten Kessler, Raili Ermel, Katyayani Sukhavasi, Arno Ruusalepp, Julien Gagneur, Jeanette Erdmann, Jason C. Kovacic, Johan L. M. Bjorkegren, Heribert Schunkert
Summary: This study systematically identified susceptibility genes for coronary artery disease (CAD) using transcriptome-wide association studies (TWAS). The study prioritized candidate causal genes at known GWAS loci, identified 18 novel genes associated with CAD, and suggested potential tissues and pathways of action for these TWAS CAD genes.
BASIC RESEARCH IN CARDIOLOGY
(2022)
Editorial Material
Cardiac & Cardiovascular Systems
Silvia Pulignani, Maria Grazia Andreassi
REVISTA ESPANOLA DE CARDIOLOGIA
(2019)
Editorial Material
Cardiac & Cardiovascular Systems
Alberto Aimo, Nicoletta Botto, Simona Vittorini, Michele Emdin
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2019)
Article
Biology
Maurizio Portaluri, Maria Fonte Petruzzelli, Francesco Tramacere, Maria Grazia Andreassi
INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
(2019)
Article
Environmental Sciences
Maria Grazia Andreassi, Andrea Borghini, Cecilia Vecoli, Emanuela Piccaluga, Giulio Guagliumi, Maurizio Del Greco, Fiorenzo Gaita, Eugenio Picano
ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
(2020)
Article
Cardiac & Cardiovascular Systems
Giovanni Donato Aquaro, Antonio De Luca, Chiara Cappelletto, Francesca Raimondi, Francesco Bianco, Nicoletta Botto, Andrea Barison, Simona Romani, Pierluigi Lesizza, Enrico Fabris, Giancarlo Todiere, Crysanthos Grigoratos, Alessandro Pingitore, Davide Stolfo, Matteo Dal Ferro, Marco Merlo, Gianluca Di Bella, Gianfranco Sinagra
Article
Biotechnology & Applied Microbiology
Michael Fenech, Siegfried Knasmueller, Lisbeth E. Knudsen, Micheline Kirsch-Volders, Permal Deo, Bernhard Franzke, Helga Stopper, Maria-Grazia Andreassi, Claudia Bolognesi, Varinderpal S. Dhillon, Blanca Laffon, Karl-Heinz Wagner, Stefano Bonassi
Summary: The purpose of the Micronuclei and Disease special issue is to investigate the association of micronuclei with various diseases in humans, define mechanisms of this association, and identify gaps in knowledge for translating micronuclei assays into clinical practice. The issue includes 14 papers covering topics such as mechanisms of micronuclei formation, associations with different diseases, effects of interventions on micronuclei frequency, and a roadmap for clinical application. Most studies reviewed were case-control studies, with meta-analyses showing different mean ratios for micronuclei frequencies in non-cancer diseases and cancers, indicating the potential of micronuclei assays in identifying high-risk patients for preventive therapy.
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
(2021)
Review
Medicine, General & Internal
Vincenzo Castiglione, Martina Modena, Alberto Aimo, Enrica Chiti, Nicoletta Botto, Simona Vittorini, Benedetta Guidi, Giuseppe Vergaro, Andrea Barison, Andrea Rossi, Claudio Passino, Alberto Giannoni, Marco Di Paolo, Michele Emdin
Summary: Molecular autopsy is the process of investigating sudden death through genetic analysis, particularly useful in cases where traditional autopsy does not provide conclusive answers. The adoption of next-generation sequencing technology has increased the detection rate of pathogenic variants and discovered new genotype-phenotype associations, but has also brought challenges in interpreting the large number of variants of unknown significance.
Article
Biochemistry & Molecular Biology
Ivana Barravecchia, Chiara De Cesari, Mattia Forcato, Francesca Scebba, Olga Pyankova, Joanna M. Bridger, Helen A. Foster, Giovanni Signore, Andrea Borghini, Mariagrazia Andreassi, Massimiliano Andreazzoli, Silvio Bicciato, Mario Enrico Pe, Debora Angeloni
Summary: Microgravity and space radiation have distinct effects on human endothelial cells in space flight, triggering different molecular pathways and leading to specific changes in cell structure and function. Tailored countermeasures should be developed separately for microgravity and space radiation to protect astronauts' health effectively.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Environmental Sciences
Biancamaria Pierri, Carlo Buonerba, Andrea Pierri, Antonio Pizzolante, Amedeo Ferro, Anna Crispo, Valentina Bollati, Tiffany R. Sanchez, Maria Grazia Andreassi, Mauro Esposito, Pellegrino Cerino
Summary: This study proposes a new biomonitoring model based on a whole systemic analytical evaluation of environmental context, aiming to evaluate the risk of exposure to environmental pollutants, predict potential correlated clinical outcomes, and support public health interventions. It combines healthy human subjects in the cohort to identify potential risks of exposure and predict possible correlated clinical outcomes, particularly focusing on areas with high levels of pollution like the Campania region.
ENVIRONMENT INTERNATIONAL
(2022)
Article
Cardiac & Cardiovascular Systems
Andrea Rossi, Alberto Giannoni, Martina Nesti, Pasquale Notarstefano, Vincenzo Castiglione, Gianluca Solarino, Lucio Teresi, Gianluca Mirizzi, Vincenzo Russo, Luca Panchetti, Umberto Startari, Andrea Ripoli, Francesco Gentile, Amato Santoro, Nicoletta Botto, Giancarlo Casolo, Juan Sieira, Maurizio Pieroni, Pasquale Santangeli, Michele Emdin, Marcello Piacenti
Summary: Heterogeneity of refractory periods in the right ventricular outflow tract (RVOT) and right ventricular (RV) apex is a strong independent predictor of life-threatening arrhythmias in patients with Brugada syndrome (BrS), beyond traditional predictors and inducibility of ventricular tachycardia/ventricular fibrillation at electrophysiological study (EPS).
Article
Biochemistry & Molecular Biology
Maria Grazia Andreassi, Nadia Haddy, Mats Harms-Ringdahl, Jonica Campolo, Andrea Borghini, Francois Chevalier, Jochen M. Schwenk, Brice Fresneau, Stephanie Bolle, Manuel Fuentes, Siamak Haghdoost
Summary: The Health Effects of Cardiac Fluoroscopy and Modern Radiotherapy (photon and proton) in Pediatrics (HARMONIC) is a five-year project funded by the European Commission with the aim of improving understanding of long-term ionizing radiation risks for pediatric patients. This paper provides a detailed overview of the project's rationale, design, and methods for the biological aspect, with objectives to understand the molecular pathways and identify potential biomarkers involved in long-term health risks. Biological samples will be collected at three time points, and state-of-the-art analytical methods will be used to assess biomarker levels and explore proteomics and miRNA transcriptomes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Maria Grazia Andreassi
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2023)
Article
Cardiac & Cardiovascular Systems
Andrea Borghini, Antonella Mercuri, Jonica Campolo, Marina Parolini, Rudina Ndreu, Stefano Turchi, Maria Grazia Andreassi
Summary: A strong relationship between Chr9p21 rs1333049 variant and LTL was identified, and they interactively affect the risk of poor prognosis in CAD patients.
JOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE
(2023)
Article
Biochemistry & Molecular Biology
Jonica Campolo, Andrea Borghini, Marina Parolini, Antonella Mercuri, Stefano Turchi, Maria Grazia Andreassi
Summary: Clinical and epidemiological evidence suggests a link between coronary artery disease (CAD) and cancer. This study aimed to identify risk factors and biomarkers that could predict cancer incidence and death in CAD patients. The study found that age, smoking, obesity, and systemic inflammatory indexes were associated with cancer incidence, while age was a predictor of cancer death. Lung and gastrointestinal cancer patients had higher levels of a specific biomarker. The study suggests that reducing risk factors and suppressing chronic inflammation may help prevent cancer in CAD patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cardiac & Cardiovascular Systems
Giovanni Donato Aquaro, Antonio De Luca, Chiara Cappelletto, Francesca Raimondi, Francesco Bianco, Nicoletta Botto, Pierluigi Lesizza, Crysanthos Grigoratos, Monia Minati, Matteo Dell'Omodarme, Alessandro Pingitore, Davide Stolfo, Matteo Dal Ferro, Marco Merlo, Gianluca Di Bella, Gianfranco Sinagra
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2020)