Article
Multidisciplinary Sciences
Xiaoyu Liang, Xuewei Cao, Qiuying Sha, Shuanglin Zhang
Summary: The article introduces a novel multivariate method for phenome-wide association studies (PheWAS) and demonstrates its superiority through extensive simulation studies and real-life application. The proposed method involves hierarchical clustering, clustering linear combination, and false discovery rate control steps.
Article
Computer Science, Interdisciplinary Applications
Xinyue Wang, Xiaoqian Jiang, Jaideep Vaidya
Summary: The paper proposes two algorithms for generating synthetic SNPs that are indistinguishable from real SNPs. Through game theoretic analysis, it demonstrates the possibility of incentivizing honest behavior by the server. Extensive experiments show that the proposed method can ensure efficient and trustworthy outsourcing of logistic regression for GWAS.
JOURNAL OF BIOMEDICAL INFORMATICS
(2021)
Review
Biochemistry & Molecular Biology
Frederick J. Boehm, Xiang Zhou
Summary: Genome-wide association studies have provided numerous associations for common diseases and complex traits. Mendelian randomization methods, utilizing SNP associations, help uncover causal relationships between complex traits. The availability of GWAS summary statistics has motivated the development of new Mendelian randomization methods with relaxed causality assumptions, offering opportunities for robust biological discoveries.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Biochemical Research Methods
Jean-Tristan Brandenburg, Lindsay Clark, Gerrit Botha, Sumir Panji, Shakuntala Baichoo, Christopher Fields, Scott Hazelhurst
Summary: The H3AGWAS workflow is a powerful and scalable tool for genome-wide association studies, capable of handling large datasets and facilitating parameter adjustments and result analysis.
BMC BIOINFORMATICS
(2022)
Article
Multidisciplinary Sciences
Abbas Saad Alatrany, Wasiq Khan, Abir Hussain, Dhiya Al-Jumeily
Summary: The increasing incidence of Alzheimer's disease (AD) poses socioeconomic challenges. In this study, a hybrid feature selection approach and neural network models are used to predict AD. The approach outperformed existing methods with 99% accuracy and f1-score, providing impactful outcomes for other chronic diseases.
Article
Biochemical Research Methods
Itziar Irigoien, Bru Cormand, Maria Soler-Artigas, Cristina Sanchez-Mora, Josep-Antoni Ramos-Quiroga, Concepcion Arenas
Summary: With the rise of GWAS, the analysis of large-scale SNP data has become crucial in biomedical research. This paper proposes a new method based on genetic distances between individuals to identify disease-related SNPs in case-control studies. By considering population substructure and avoiding multiple testing issues, the method provides ordered lists of SNPs and serves as a useful tool for researchers to focus their attention in the initial stage.
IEEE-ACM TRANSACTIONS ON COMPUTATIONAL BIOLOGY AND BIOINFORMATICS
(2022)
Article
Plant Sciences
Huilong Hong, Mei Li, Yijie Chen, Haorang Wang, Jun Wang, Bingfu Guo, Huawei Gao, Honglei Ren, Ming Yuan, Yingpeng Han, Lijuan Qiu
Summary: This study analyzed the phenotypic diversity and genetic basis of epicotyl length (EL) in soybean using 951 cultivars and landraces from different regions. The study identified 180 QTNs and QEIs associated with EL, and predicted 10 candidate genes that may be involved in seed germination and seedling development.
FRONTIERS IN PLANT SCIENCE
(2022)
Article
Agriculture, Dairy & Animal Science
Md Azizul Haque, Mohammad Zahangir Alam, Asif Iqbal, Yun-Mi Lee, Chang-Gwon Dang, Jong-Joo Kim
Summary: Holstein has been the most widely used dairy cattle breed in the Korean Peninsula since its introduction in 1885. A genome-wide association study (GWAS) was conducted to identify the genes associated with body conformation traits in the Korean Holstein population, and 24 significant SNPs were identified. The study provides insights into the genetic basis of body conformation traits and paves the way for future breeding strategies in dairy cattle.
Review
Plant Sciences
Laura Tibbs Cortes, Zhiwu Zhang, Jianming Yu
Summary: Genome-wide association studies (GWAS) have become a powerful tool for investigating complex traits, with the development of the mixed model framework reducing false positives. Advances in technology have led to the development of methods to increase computational speed or improve statistical power in GWAS.
Article
Biotechnology & Applied Microbiology
Shan Lin, Cuncun Ke, Lin Liu, Yahui Gao, Lingna Xu, Bo Han, Yaofeng Zhao, Shengli Zhang, Dongxiao Sun
Summary: In this study, 14 candidate genes related to immunoglobulin concentrations in colostrum and serum in dairy cattle were identified through genome-wide association studies (GWASs). These findings provide a basis for further investigation into key genes and mutations affecting immunoglobulin concentrations, as well as important information for genetic improvement of immune traits in dairy cattle.
Article
Multidisciplinary Sciences
Ludivine Obry, Cyril Dalmasso
Summary: In this study, we evaluated recent weighted multiple testing procedures for genome wide association studies (GWAS) through a simulation study. We also introduced a new efficient procedure called wBHa, which prioritizes the detection of genetic variants with low minor allel frequencies while maximizing overall detection power. Our results demonstrated that wBHa outperformed other procedures in detecting rare variants while maintaining good overall power.
Article
Plant Sciences
Kyu-Won Kim, Bhagwat Nawade, Jungrye Nam, Sang-Ho Chu, Jungmin Ha, Yong-Jin Park
Summary: This study presents an integrated SNP array system for rice breeding research, which combines SNPs from eight different data resources. The developed 580 K Axiom Rice Genotyping Chip demonstrates robust and highly efficient genotyping in various studies, including GWAS and GS. This cost-effective genotyping platform will accelerate rice breeding research.
FRONTIERS IN PLANT SCIENCE
(2022)
Review
Biochemistry & Molecular Biology
Imane Lalami, Carole Abo, Bruno Borghese, Charles Chapron, Daniel Vaiman
Summary: This review discusses the genetics of endometriosis, a common feminine disease with a genetic heritability estimated at around 50%. Large GWAS studies have identified some genes and loci associated with the disease, but a significant portion of the heritability remains unexplained. Additional efforts such as exome sequencing may be needed to fully elucidate the genetic factors of endometriosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Editorial Material
Medicine, General & Internal
Lisa Bastarache, Joshua C. Denny, Dan M. Roden
Summary: This article discusses the concept and methodology of phenome-wide association studies, which aim to identify associations between genetic variations and phenotypic traits using a dataset.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2022)
Review
Anesthesiology
Song Li, Annika Brimmers, Regina L. M. van Boekel, Kris C. P. Vissers, Marieke J. H. Coenen
Summary: Pain is the leading cause of disability, and genetic factors play an important role in individual susceptibility to pain and pain treatment response. Through systematic review of genome-wide association studies, several genetic loci associated with pain and pain-related phenotypes have been identified. Replication studies and bioinformatic tools are needed to further validate and understand the function of these pain-associated genes.
Article
Computer Science, Interdisciplinary Applications
Mathew Birdsall Abrams, Jan G. Bjaalie, Samir Das, Gary F. Egan, Satrajit S. Ghosh, Wojtek J. Goscinski, Jeffrey S. Grethe, Jeanette Hellgren Kotaleski, Eric Tatt Wei Ho, David N. Kennedy, Linda J. Lanyon, Trygve B. Leergaard, Helen S. Mayberg, Luciano Milanesi, Roman Moucek, J. B. Poline, Prasun K. Roy, Stephen C. Strother, Tong Boon Tang, Paul Tiesinga, Thomas Wachtler, Daniel K. Wojcik, Maryann E. Martone
Summary: There is a great need for coordination around standards and best practices in neuroscience to address challenges in data science. Developing community standards and gaining their adoption is difficult, as the current landscape is characterized by a lack of robust, validated standards and a plethora of underdeveloped and underutilized standards and best practices. An independent organization, the International Neuroinformatics Coordinating Facility (INCF), is dedicated to promoting data sharing in neuroscience and has implemented procedures for evaluating and endorsing community standards and best practices.
Correction
Computer Science, Interdisciplinary Applications
Mathew Birdsall Abrams, Jan G. Bjaalie, Samir Das, Gary F. Egan, Satrajit S. Ghosh, Wojtek J. Goscinski, Jeffrey S. Grethe, Jeanette Hellgren Kotaleski, Eric Tatt Wei Ho, David N. Kennedy, Linda J. Lanyon, Trygve B. Leergaard, Helen S. Mayberg, Luciano Milanesi, Roman Moucek, J. B. Poline, Prasun K. Roy, Stephen C. Strother, Tong Boon Tang, Paul Tiesinga, Thomas Wachtler, Daniel K. Wojcik, Maryann E. Martone
Article
Toxicology
Livia Ferraz D'avila, Veronica Tironi Dias, Fabiola Trevizol, Vinicia Garzella Metz, Karine Roversi, Laura Milanesi, Luana Haselein Maurer, Julia Baranzelli, Tatiana Emanuelli, Marilise Escobar Burger
Summary: Recent research suggests that maternal consumption of interesterified fat (IF) before conception could adversely affect cognitive performance in adult rat offspring. The study found that IF consumption decreased neurotrophin levels and fatty acid incorporation in the hippocampus of the adult male offspring, resulting in decreased memory and exploratory activity. Further research is needed to understand the molecular mechanisms and epigenetic changes induced by maternal preconception consumption of IF.
TOXICOLOGY LETTERS
(2022)
Article
Geriatrics & Gerontology
Fabio Macciardi, Maria Giulia Bacalini, Ricardo Miramontes, Alessio Boattini, Cristian Taccioli, Giorgia Modenini, Rond Malhas, Laura Anderlucci, Yuriy Gusev, Thomas J. Gross, Robert M. Padilla, Massimo S. Fiandaca, Elizabeth Head, Guia Guffanti, Howard J. Federoff, Mark Mapstone
Summary: Recent research suggests that the reactivation of silent transposable elements (TEs) may contribute to brain degeneration through dysregulation of gene expression and immune-mediated inflammation. In this study, the researchers investigated the differential expression of TEs in blood as potential biomarkers for cognitive decline and Alzheimer's disease (AD). Using a customized pipeline and RNA-Seq data, they identified and characterized the differentially expressed TEs before and after the onset of late-onset Alzheimer's disease (LOAD) in aging subjects. Their findings indicate that a storm of differentially expressed TEs occurs before the clinical manifestation of LOAD, and these TEs can accurately discriminate between individuals before and after phenotypic conversion to LOAD.
Article
Neurosciences
D. R. Rossato, H. Z. Rosa, J. L. O. Rosa, L. H. Milanesi, V. G. Metz, L. F. D'Avila, M. E. Burger
Summary: Tactile stimulation (TS) may have positive effects on addiction recovery by preventing or reducing amphetamine (AMPH) relapse behavior and inducing molecular neuroadaptations in the brain. Further research can include TS as a useful tool in the treatment of psychostimulant addiction, alongside conventional detoxification programs with pharmacotherapies and psychological treatments.
MOLECULAR NEUROBIOLOGY
(2022)
Article
Neurosciences
Silvia Bonanno, Paola Cavalcante, Erika Salvi, Eleonora Giagnorio, Claudia Malacarne, Marco Cattaneo, Francesca Andreetta, Anna Venerando, Viviana Pensato, Cinzia Gellera, Riccardo Zanin, Maria Teresa Arnoldi, Claudia Dosi, Renato Mantegazza, Riccardo Masson, Lorenzo Maggi, Stefania Marcuzzo
Summary: This study found an inflammatory signature in serum of SMA patients that was reduced after treatment, along with the presence of inflammatory mediators in the cerebrospinal fluid.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2022)
Article
Chemistry, Multidisciplinary
Andrea Manconi, Giuliano Armano, Matteo Gnocchi, Luciano Milanesi
Summary: COVID-19 is a global pandemic that has highlighted the limitations of health systems in managing the disease. Diagnostic tests for the virus, such as RT-PCR and antigen tests, have shown limitations in terms of accuracy and speed. This study proposes an approach based on 3D Inception CNNs to provide accurate diagnosis in a short time, using soft voting ensemble classifier models.
APPLIED SCIENCES-BASEL
(2022)
Article
Biology
Thomas W. Winkler, Humaira Rasheed, Alexander Teumer, Mathias Gorski, Bryce X. Rowan, Kira J. Stanzick, Laurent F. Thomas, Adrienne Tin, Anselm Hoppmann, Audrey Y. Chu, Bamidele Tayo, Chris H. L. Thio, Daniele Cusi, Jin-Fang Chai, Karsten B. Sieber, Katrin Horn, Man Li, Markus Scholz, Massimiliano Cocca, Matthias Wuttke, Peter J. van der Most, Qiong Yang, Sahar Ghasemi, Teresa Nutile, Yong Li, Giulia Pontali, Felix Guenther, Abbas Dehghan, Adolfo Correa, Afshin Parsa, Agnese Feresin, Aiko P. J. de Vries, Alan B. Zonderman, Albert Smith, Albertine J. Oldehinkel, Alessandro De Grandi, Alexander R. Rosenkranz, Andre Franke, Andrej Teren, Andres Metspalu, Andrew A. Hicks, Andrew P. Morris, Anke Toenjes, Anna Morgan, Anna Podgornaia, Annette Peters, Antje Koerner, Anubha Mahajan, Archie Campbell, Barry Freedman, Beatrice Spedicati, Belen Ponte, Ben Schoettker, Ben Brumpton, Bernhard Banas, Bernhard K. Kraemer, Bettina Jung, Bjorn Olav Asvold, Blair H. Smith, Boting Ning, Brenda W. J. H. Penninx, Brett R. Vanderwerff, Bruce M. Psaty, Candace M. Kammerer, Carl D. Langefeld, Caroline Hayward, Cassandra N. Spracklen, Cassianne Robinson-Cohen, Catharina A. Hartman, Cecilia M. Lindgren, Chaolong Wang, Charumathi Sabanayagam, Chew-Kiat Heng, Chiara Lanzani, Chiea-Chuen Khor, Ching-Yu Cheng, Christian Fuchsberger, Christian Gieger, Christian M. Shaffer, Christina-Alexandra Schulz, Cristen J. Willer, Daniel Chasman, Daniel F. Gudbjartsson, Daniela Ruggiero, Daniela Toniolo, Darina Czamara, David J. Porteous, Dawn M. Waterworth, Deborah Mascalzoni, Dennis O. Mook-Kanamori, Dermot F. Reilly, E. Warwick Daw, Edith Hofer, Eric Boerwinkle, Erika Salvi, Erwin P. Bottinger, E-Shyong Tai, Eulalia Catamo, Federica Rizzi, Feng Guo, Fernando Rivadeneira, Franco Guilianini, Gardar Sveinbjornsson, Georg Ehret, Gerard Waeber, Ginevra Biino, Giorgia Girotto, Giorgio Pistis, Girish N. Nadkarni, Graciela E. Delgado, Grant W. Montgomery, Harold Snieder, Harry Campbell, Harvey D. White, He Gao, Heather M. Stringham, Helena Schmidt, Hengtong Li, Hermann Brenner, Hilma Holm, Holgen Kirsten, Holly Kramer, Igor Rudan, Ilja M. Nolte, Ioanna Tzoulaki, Isleifur Olafsson, Jade Martins, James P. Cook, James F. Wilson, Jan Halbritter, Janine F. Felix, Jasmin Divers, Jaspal S. Kooner, Jeannette Jen-Mai Lee, Jeffrey O'Connell, Jerome Rotter, Jianjun Liu, Jie Xu, Joachim Thiery, Johan Arnlov, Johanna Kuusisto, Johanna Jakobsdottir, Johanne Tremblay, John C. Chambers, John B. Whitfield, John M. Gaziano, Jonathan Marten, Josef Coresh, Jost B. Jonas, Josyf C. Mychaleckyj, Kaare Christensen, Kai-Uwe Eckardt, Karen L. Mohlke, Karlhans Endlich, Katalin Dittrich, Kathleen A. Ryan, Kenneth M. Rice, Kent D. Taylor, Kevin Ho, Kjell Nikus, Koichi Matsuda, Konstantin Strauch, Kozeta Miliku, Kristian Hveem, Lars Lind, Lars Wallentin, Laura M. Yerges-Armstrong, Laura M. Raffield, Lawrence S. Phillips, Lenore J. Launer, Leo-Pekka Lyytikainen, Leslie A. Lange, Lorena Citterio, Lucija Klaric, M. Arfan Ikram, Marcus Ising, Marcus E. Kleber, Margherita Francescatto, Maria Pina Concas, Marina Ciullo, Mario Piratsu, Marju Orho-Melander, Markku Laakso, Markus Loeffler, Markus Perola, Martin H. de Borst, Martin Gogele, Martina La Bianca, Mary Ann Lukas, Mary F. Feitosa, Mary L. Biggs, Mary K. Wojczynski, Maryam Kavousi, Masahiro Kanai, Masato Akiyama, Masayuki Yasuda, Matthias Nauck, Melanie Waldenberger, Miao-Li Chee, Miao-Ling Chee, Michael Boehnke, Michael H. Preuss, Michael Stumvoll, Michael A. Province, Michele K. Evans, Michelle L. O'Donoghue, Michiaki Kubo, Mika Kahonen, Mika Kastarinen, Mike A. Nalls, Mikko Kuokkanen, Mohsen Ghanbari, Murielle Bochud, Navya Shilpa Josyula, Nicholas G. Martin, Nicholas Y. Q. Tan, Nicholette D. Palmer, Nicola Pirastu, Nicole Schupf, Niek Verweij, Nina Hutri-Kahonen, Nina Mononen, Nisha Bansal, Olivier Devuyst, Olle Melander, Olli T. Raitakari, Ozren Polasek, Paolo Manunta, Paolo Gasparini, Pashupati P. Mishra, Patrick Sulem, Patrik K. E. Magnusson, Paul Elliott, Paul M. Ridker, Pavel Hamet, Per O. Svensson, Peter K. Joshi, Peter Kovacs, Peter P. Pramstaller, Peter Rossing, Peter Vollenweider, Pim van der Harst, Rajkumar Dorajoo, Ralene Z. H. Sim, Ralph Burkhardt, Ran Tao, Raymond Noordam, Reedik Magi, Reinhold Schmidt, Renee de Mutsert, Rico Rueedi, Rob M. van Dam, Robert J. Carroll, Ron T. Gansevoort, Ruth J. F. Loos, Sala Cinzia Felicita, Sanaz Sedaghat, Sandosh Padmanabhan, Sandra Freitag-Wolf, Sarah A. Pendergrass, Sarah E. Graham, Scott D. Gordon, Shih-Jen Hwang, Shona M. Kerr, Simona Vaccargiu, Snehal B. Patil, Stein Hallan, Stephan J. L. Bakker, Su-Chi Lim, Susanne Lucae, Suzanne Vogelezang, Sven Bergmann, Tanguy Corre, Tarunveer S. Ahluwalia, Terho Lehtimaki, Thibaud S. Boutin, Thomas Meitinger, Tien-Yin Wong, Tobias Bergler, Ton J. Rabelink, Tonu Esko, Toomas Haller, Unnur Thorsteinsdottir, Uwe Voelker, Valencia Hui Xian Foo, Veikko Salomaa, Veronique Vitart, Vilmantas Giedraitis, Vilmundur Gudnason, Vincent W. V. Jaddoe, Wei Huang, Weihua Zhang, Wen Bin Wei, Wieland Kiess, Winfried Marz, Wolfgang Koenig, Wolfgang Lieb, Xin Gao, Xueling Sim, Ya Xing Wang, Yechiel Friedlander, Yih-Chung Tham, Yoichiro Kamatani, Yukinori Okada, Yuri Milaneschi, Zhi Yu, Klaus J. Stark, Kari Stefansson, Carsten A. Boeger, Adriana M. Hung, Florian Kronenberg, Anna Koettgen, Cristian Pattaro, Iris M. Heid
Summary: A large-scale GWAS study identified significant genetic effects of diabetes and genes on glomerular filtration rate, with potential loci associated with diabetic kidney disease. The study also highlighted genes that may inform the development of reno-protective drugs.
COMMUNICATIONS BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Giacomina Rossi, Erika Salvi, Luisa Benussi, Elkadia Mehmeti, Andrea Geviti, Sonia Bellini, Antonio Longobardi, Alessandro Facconi, Matteo Carrara, Cristian Bonvicini, Roland Nicsanu, Claudia Saraceno, Martina Ricci, Giorgio Giaccone, Giuliano Binetti, Roberta Ghidoni
Summary: This study investigated the role of variants in lysosomal genes in the age of onset of genetic FTLD. The researchers found that the p.Asn521Thr variant in the PINK1 gene was associated with earlier disease onset in GRN/C9orf72 pedigrees. Understanding the mechanisms behind this modulating effect could be critical for identifying biomarkers and designing drugs to modify the age of onset in FTLD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Multidisciplinary Sciences
Edith Le Floch, Teresa Cosentino, Casper K. Larsen, Felix Beuschlein, Martin Reincke, Laurence Amar, Gian-Paolo Rossi, Kelly De Sousa, Stephanie Baron, Sophie Chantalat, Benjamin Saintpierre, Livia Lenzini, Arthur Frouin, Isabelle Giscos-Douriez, Matthis Ferey, Alaa B. Abdellatif, Tchao Meatchi, Jean-Philippe Empana, Xavier Jouven, Christian Gieger, Melanie Waldenberger, Annette Peters, Daniele Cusi, Erika Salvi, Pierre Meneton, Mathilde Touvier, Melanie Deschasaux, Nathalie Druesne-Pecollo, Sheerazed Boulkroun, Fabio L. Fernandes-Rosa, Jean-Francois Deleuze, Xavier Jeunemaitre, Maria-Christina Zennaro
Summary: This study conducted a genome-wide association study in hypertensive patients and identified three main loci associated with primary aldosteronism. Candidate genes located within these loci were expressed in the adrenal glands and were found to suppress aldosterone production, revealing new mechanisms of disease development.
NATURE COMMUNICATIONS
(2022)
Article
Clinical Neurology
Mirna Andelic, Erika Salvi, Stefania Marcuzzo, Margherita Marchi, Raffaella Lombardi, Daniele Cartelli, Daniele Cazzato, Elkadia Mehmeti, Andrea Gelemanovic, Matilde Paolini, Carlotta Pardo, Ilaria D'Amato, Janneke G. J. Hoeijmakers, Sulayman Dib-Hajj, Stephen G. Waxman, Catharina G. Faber, Giuseppe Lauria
Summary: Personalized management of neuropathic pain is a clinical need that has not been fulfilled due to various factors. Recent studies on microRNA have provided insights into pain-related mechanisms and identified potential drug candidates. By generating a molecular profile of the epidermis in patients with sodium channel-related painful neuropathy, the researchers identified specific miRNAs and mRNA targets that are involved in peripheral sensory transduction and modulation. The findings suggest a complex interaction between epidermal cells and axons in neuropathy pain. This targeted molecular profiling could advance personalized medicine for neuropathic pain.
Article
Biochemistry & Molecular Biology
Milena Sleczkowska, Rowida Almomani, Margherita Marchi, Erika Salvi, Bianca T. A. de Greef, Maurice Sopacua, Janneke G. J. Hoeijmakers, Patrick Lindsey, Stephen G. Waxman, Giuseppe Lauria, Catharina G. Faber, Hubert J. M. Smeets, Monique M. Gerrits
Summary: This study assessed the role of fifteen ion channel genes in neuropathic pain. Variants in ion channel genes were identified in SFN patients, with TRP genes being the most frequent. Patients with these variants reported more severe pain. This study provides promising gene candidates for future research on neuropathic pain etiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Rowida Almomani, Maurice Sopacua, Margherita Marchi, Milena Sleczkowska, Patrick Lindsey, Bianca T. A. de Greef, Janneke G. J. Hoeijmakers, Erika Salvi, Ingemar S. J. Merkies, Maryam A. Ferdousi, Rayaz Malik, Dan Ziegler, Kasper W. J. Derks, Gidon Boenhof, Filippo Martinelli-Boneschi, Daniele Cazzato, Raffaella Lombardi, Sulayman G. Dib-Hajj, Stephen Waxman, Hubert J. M. M. Smeets, Monique G. Gerrits, Catharina Faber, Giuseppe Lauria
Summary: Rare SCG genetic variants may contribute to the development of painful neuropathy. Genetic profiling and SCG variant identification can provide better understanding of the genetic variability in patients with painful and painless neuropathy, leading to improved risk stratification and personalized pain treatments.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Anesthesiology
Margherita Marchi, Erika Salvi, Mirna Andelic, Elkadia Mehmeti, Ilaria D'Amato, Daniele Cazzato, Federica Chiappori, Raffaella Lombardi, Daniele Cartelli, Grazia Devigili, Eleonora Dalla Bella, Monique Gerrits, Rowida Almomani, Rayaz A. Malik, Milena Sleczkowska, Anna Mazzeo, Luca Gentile, Sulayman Dib-Hajj, Stephen G. Waxman, Catharina G. Faber, Eleonora Vecchio, Marina de Tommaso, Giuseppe Lauria
Summary: This study aimed to identify rare variants associated with chronic neuropathic pain and nociplastic pain by conducting next-generation sequencing and gene-wise aggregation analysis. TRPA1 was found to be the most significant gene, with the frequency of rare variants significantly differentiating chronic pain patients from healthy controls. The study expands the understanding of channelopathy-related chronic pain disorders and contributes to personalized therapies based on patients' molecular profiles.
Article
Medicine, Research & Experimental
Mirna Andelic, Margherita Marchi, Stefania Marcuzzo, Raffaella Lombardi, Catharina G. Faber, Giuseppe Lauria, Erika Salvi
Summary: Archived specimens are valuable resources in translational medicine and can be used for retrospective molecular studies and disease prediction. Microfluidic arrays are cost-effective methods for profiling miRNAs, but post-analytical pipelines should be standardized and appropriate settings and references should be considered.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT
(2023)
