Article
Critical Care Medicine
Catherine John, Anna L. Guyatt, Nick Shrine, Richard Packer, Thorunn A. Olafsdottir, Jiangyuan Liu, Lystra P. Hayden, Su H. Chu, Jukka T. Koskela, Jian'an Luan, Xingnan Li, Natalie Terzikhan, Hanfei Xu, Traci M. Bartz, Hans Petersen, Shuguang Leng, Steven A. Belinsky, Aivaras Cepelis, Ana I. Hernandez Cordero, Ma'en Obeidat, Gudmar Thorleifsson, Deborah A. Meyers, Eugene R. Bleecker, Lori C. Sakoda, Carlos Iribarren, Yohannes Tesfaigzi, Sina A. Gharib, Josee Dupuis, Guy Brusselle, Lies Lahousse, Victor E. Ortega, Ingileif Jonsdottir, Don D. Sin, Yohan Bosse, Maarten van den Berge, David Nickle, Jennifer K. Quint, Ian Sayers, Ian P. Hall, Claudia Langenberg, Samuli Ripatti, Tarja Laitinen, Ann C. Wu, Jessica Lasky-Su, Per Bakke, Amund Gulsvik, Craig P. Hersh, Caroline Hayward, Arnulf Langhammer, Ben Brumpton, Kari Stefansson, Michael H. Cho, Louise Wain, Martin D. Tobin
Summary: This study identified genetic variants associated with asthma-COPD overlap and discovered shared genetic influences that may predispose individuals to type 2 inflammation and serious long-term consequences of asthma.
Article
Multidisciplinary Sciences
Spencer B. Huggett, Ami S. Ikeda, Qingyue Yuan, Chelsie E. Benca-Bachman, Rohan H. C. Palmer
Summary: Genetic mechanisms of alternative mRNA splicing have been identified in the brain for various neuropsychiatric traits, but not for substance use disorders (SUDs). This study examined the role of genetic contributions in alternative mRNA splicing in alcohol use disorder (AUD). RNA-sequencing data and genome-wide association data were used to identify differentially spliced genes and splicing quantitative trait loci (sQTLs) associated with AUD. The study also conducted splicing transcriptome-wide association studies (TWASs) of AUD and other drug use traits to identify specific genes of interest. Overall, the study found significant genetic contributions of alternative mRNA splicing in AUD.
SCIENTIFIC REPORTS
(2023)
Article
Biochemical Research Methods
Marleen Balvert, Xiao Luo, Ernestina Hauptfeld, Alexander Schonhuth, Bas E. Dutilh
Summary: OGRE is a novel approach for read clustering in high-throughput sequencing data, outperforming other binners in terms of cluster purity and read allocation, especially for large metagenomic datasets. It successfully clusters reads into species-specific clusters without encountering computation time or memory issues, making it a valuable tool for downstream analyses in metagenomics.
Article
Neurosciences
Bang-Sheng Wu, Yi-Jun Ge, Wei Zhang, Shi-Dong Chen, Shi-Tong Xiang, Ya-Ru Zhang, Ya-Nan Ou, Yu-Chao Jiang, Lan Tan, Wei Cheng, John Suckling, Jian-Feng Feng, Jin-Tai Yu, Ying Mao
Summary: In this study, a genome-wide association analysis of cerebellar white matter microstructure was conducted using diffusion tensor imaging data from 25,415 individuals from UK Biobank. The study identified 11 genetic loci and 86 genes associated with cerebellar white matter microstructure. Functional enrichment analysis revealed the involvement of GABAergic neurons and cholinergic pathways. The study also found significant genetic overlap between cerebellar white matter tracts and adjacent brain regions, as well as genetic correlations with movement, cognitive, psychiatric, and cerebrovascular traits. Overall, this study provides important insights into the genetics of cerebellar white matter microstructure and its shared genetic etiology with common brain disorders.
Article
Rheumatology
Marc Scherlinger, Johanna Lutz, Gael Galli, Christophe Richez, Jacques-Eric Gottenberg, Jean Sibilia, Laurent Arnaud, Patrick Blanco, Thierry Schaeverbeke, Emmanuel Chatelus, Marie-Elise Truchetet
Summary: This study found significant differences in clinical characteristics and prognosis in patients with systemic sclerosis who have concomitant autoimmune diseases. Patients with overlap SgS/SSc had a higher risk of mortality, while those with RA/SSc received more medication treatments.
SEMINARS IN ARTHRITIS AND RHEUMATISM
(2021)
Article
Biotechnology & Applied Microbiology
Christina M. Dauben, Maren J. Proll-Cornelissen, Esther M. Heuss, Anne K. Appel, Hubert Henne, Katharina Roth, Karl Schellander, Ernst Tholen, Christine Grosse-Brinkhaus
Summary: The study identified genomic regions associated with immune relevant traits in Landrace (LR) and Large White (LW) piglets, with differences between the two maternal pig lines and relevant candidate genes. The results partly align with previously identified quantitative trait loci (QTL) regions, and novel genomic regions were also identified for further analysis. The study suggests a polygenic and breed-specific background of immune relevant traits, providing insights for breeding-based modification of the porcine immune system.
Article
Plant Sciences
Kittikun Songsomboon, Ryan Crawford, Jamie Crawford, Julie Hansen, Jaime Cummings, Neil Mattson, Gary C. Bergstrom, Donald R. Viands
Summary: This study aims to determine resistant populations of switchgrass and identify potential resistance genes through multiple phenotyping approaches and genome-wide association studies (GWAS). The most resistant populations were identified based on a combination of three phenotyping approaches and GWAS showed significant SNPs associated with resistance. Potential resistance genes were linked with SNP markers within a certain range.
Article
Multidisciplinary Sciences
Wikus Barkhuizen, Frank Dudbridge, Angelica Ronald
Summary: The study revealed significant genetic correlations between smoking and psychiatric disorders, with smoking potentially playing a causal role in vulnerability for mental illness. The findings suggest common genetic pathways linking smoking and psychiatric disorders.
SCIENTIFIC REPORTS
(2021)
Review
Oncology
Bruno Fattizzo, Fabio Serpenti, Wilma Barcellini, Chiara Caprioli
Summary: Hypoplastic myelodysplastic syndromes (hMDS) pose a diagnostic challenge, blending features of both MDS (dysplasia, genetic lesions, cytopenias) and aplastic anemia (low cellularity, autoimmunity). There are two potential hMDS phenotypes: one proinflammatory and autoimmune, resembling AA and responding to immunosuppression; the other MDS-like, dominated by genetic lesions and prone to leukemic evolution. Personalized treatment and monitoring based on the predominant hMDS phenotype may be beneficial for patient management.
Article
Biotechnology & Applied Microbiology
Katharina Roth, Maren Julia Proell-Cornelissen, Hubert Henne, Anne Kathrin Appel, Karl Schellander, Ernst Tholen, Christine Grosse-Brinkhaus
Summary: This study evaluated the joint genetic background of immune traits in Landrace and Large White pigs through the application of various univariate and multivariate genome-wide association study approaches. Compared to univariate methods, multivariate methodologies identified more significant associations, which might reflect the pleiotropic background of the immune system more accurately.
Article
Clinical Neurology
Christine Strippel, Marisol Herrera-Rivero, Mareike Wendorff, Anja K. Tietz, Frauke Degenhardt, Anika Witten, Christina Schroeter, Christopher Nelke, Kristin S. Golombeck, Marie Madlener, Theodor Rueber, Leon Ernst, Attila Racz, Tobias Baumgartner, Guido Widman, Kathrin Doppler, Franziska Thaler, Kai Siebenbrodt, Andre Dik, Constanze Kerin, Saskia Rauber, Marco Gallus, Stjepana Kovac, Oliver M. Grauer, Alexander Grimm, Harald Pruess, Jonathan Wickel, Christian Geis, Jan Lewerenz, Norbert Goebels, Marius Ringelstein, Til Menge, Bjoern Tackenberg, Christoph Kellinghaus, Christian G. Bien, Andrea Kraft, Uwe Zettl, Fatme Seval Ismail, Ilya Ayzenberg, Christian Urbanek, Kurt-Wolfram Suhs, Simone C. Tauber, Sigrid Mues, Peter Kortvelyessy, Robert Markewitz, Asterios Paliantonis, Christian E. Elger, Rainer Surges, Claudia Sommer, Tania Kumpfel, Catharina C. Gross, Holger Lerche, Jorg Wellmer, Carlos M. Quesada, Florian Then Bergh, Klaus-Peter Wandinger, Albert J. Becker, Wolfram S. Kunz, Gerd Meyer zu Hoerste, Michael P. Malter, Felix Rosenow, Heinz Wiendl, Gregor Kuhlenbaumer, Frank Leypoldt, Wolfgang Lieb, Andre Franke, Sven G. Meuth, Monika Stoll, Nico Melzer
Summary: This study identified susceptibility loci for anti-GAD65 AINS, suggesting a strong genetic predisposition with functional implications for immunity and neural function.
Article
Medicine, General & Internal
Chun Yu Li, Tian Mi Yang, Ru Wei Ou, Qian Qian Wei, Hui Fang Shang
Summary: The study found a significant positive genetic correlation between ALS and celiac disease, multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosus, as well as a significant negative genetic correlation between ALS and inflammatory bowel disease, ulcerative colitis, and Crohn's disease. Three novel ALS risk genes were identified among shared risk loci.
Article
Nutrition & Dietetics
Sandra Hummel, Andreas Weiss, Ezio Bonifacio, Daniel Agardh, Beena Akolkar, Carin A. Aronsson, William A. Hagopian, Sibylle Koletzko, Jeffrey P. Krischer, Ake Lernmark, Kristian Lynch, Jill M. Norris, Marian J. Rewers, Jin-Xiong She, Jorma Toppari, Ulla Uusitalo, Kendra Vehik, Suvi M. Virtanen, Andreas Beyerlein, Anette-G Ziegler
Summary: This study found that longer breastfeeding duration was not associated with lower risk of childhood autoimmunity, but was associated with decreased risk of seasonal allergic rhinitis and obesity at 5.5 years of age in genetically at-risk children.
AMERICAN JOURNAL OF CLINICAL NUTRITION
(2021)
Review
Biotechnology & Applied Microbiology
Huibao Feng, Yaomeng Yuan, Zheng Yang, Xin-Hui Xing, Chong Zhang
Summary: The concept of genes has evolved greatly, but how traits are encoded by the genome remains unclear. Systematic functional genomic studies have achieved significant progress, offering the potential to design more powerful methods for deciphering the code of life.
JOURNAL OF BIOSCIENCE AND BIOENGINEERING
(2021)
Article
Agronomy
Danting Li, Fantao Zhang, Shannon R. M. Pinson, Jeremy D. Edwards, Aaron K. Jackson, Xiuzhong Xia, Georgia C. Eizenga
Summary: By identifying SNP alleles associated with sheath blight resistance in rice germplasm resources, it is possible to breed high-yield varieties with enhanced resistance and increased tiller and panicle numbers.
Article
Immunology
Shane Kelly, Katherine J. L. Jackson, Timothy J. Peters, Dan Suan, Christopher C. Goodnow
Summary: This study successfully identified and characterized PR3-specific B cells from the peripheral blood of patients with PR3 autoantibodies. These cells exhibited specific immunological features, suggesting that PR3 self-reactivity may occur early in B-cell development.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Ana Merino-Vico, Jan Piet van Hamburg, Paul Tuijnenburg, Giulia Frazzei, Aram Al-Soudi, Carlo G. Bonasia, Boy Helder, Abraham Rutgers, Wayel H. Abdulahad, Coen A. Stegeman, Jan-Stephan Sanders, Laura Bergamaschi, Paul A. Lyons, Theo Bijma, Laura van Keep, Kirsten Wesenhagen, Aldo Jongejan, Henric Olsson, Niek de Vries, Taco W. Kuijpers, Peter Heeringa, Sander W. Tas
Summary: B lineage cells play a critical role in ANCA-associated vasculitis (AAV), and the transcription factor NF-kappa B may be a potential therapeutic target for AAV and other autoimmune diseases with prominent B cell involvement.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Christopher Nelke, Thomas Muentefering, Derya Cengiz, Lukas Theissen, Vera Dobelmann, Christina B. Schroeter, Helena Block, Corinna Preu, Alexander P. E. Michels, Stefanie Lichtenberg, Marc Pawlitzki, Steffen Pfeuffer, Niklas Huntemann, Alexander Zarbock, Thorben Briese, Christoph Kittl, Carsten Dittmayer, Thomas Budde, Ingrid E. Lundberg, Werner Stenzel, Sven G. Meuth, Tobias Ruck
Summary: K2P2.1 plays a regulatory role in the autoimmune response of idiopathic inflammatory myopathies (IIMs), by regulating inflammatory cell response, adhesion, and transmigration in both endothelial and skeletal muscle cells. Inhibiting K2P2.1 enhances the inflammatory response, while activating K2P2.1 improves the disease course.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Xuan Zhang, Jun Xia, Ying Jiang, David S. Pisetsky, Josef S. Smolen, Rong Mu, Shengming Dai, Michael E. Weinblatt, Tore K. Kvien, Juan Li, Thomas Doerner, Yu Zhang, Liwei Lu, Chengde Yang, Pingting Yang, Yuan Zhang, Chenchen Xu, Zhan Zhao, Peter E. Lipsky
Summary: The study suggests that TwHF may be as effective as MTX in treating active RA, and combination therapy may be more effective than monotherapy.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Maya F. Amjadi, Maxwell H. Parker, Ryan R. Adyniec, Zihao Zheng, Alex M. Robbins, S. Janna Bashar, Michael F. Denny, Sara S. Mccoy, Irene M. Ong, Miriam A. Shelef
Summary: Rheumatoid factors (RFs) are polyreactive antibodies that can bind disease-specific epitopes. Recent studies have found that RFs in COVID-19 can bind novel IgG epitopes, which provides new insights into the mechanism of RFs.
JOURNAL OF AUTOIMMUNITY
(2024)
Article
Immunology
Johanne Liberatore, Yann Nguyen, Jerome Hadjadj, Pascal Cohen, Luc Mouthon, Xavier Puechal, Loic Guillevin, Benjamin Terrier
Summary: B-cell depletion induced by rituximab (RTX) in ANCA-associated vasculitis (AAV) can lead to decreased gammaglobulin levels, which is associated with an increased risk of relapse and severe infections. Older age, low gammaglobulin levels, and receiving pulses of methylprednisolone at induction therapy are risk factors for gammaglobulin decline.
JOURNAL OF AUTOIMMUNITY
(2024)