Review
Allergy
Bernard S. S. Stikker, Rudi W. W. Hendriks, Ralph Stadhouders
Summary: Asthma is a complex inflammatory disease influenced by both environmental and genetic factors. Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with asthma, but most of these variants are located in non-coding regions, making it difficult to understand their functional impact and relevance to disease mechanisms. Advances in genomics technology and epigenetics have allowed for the identification of gene regulatory elements linked to genetic variants in non-coding regions, shedding light on the (epi)genetic mechanisms of asthma. This article provides an integrated overview of asthma-associated (epi)genetic variants and their connection to asthma pathophysiology using state-of-the-art genomics methodology. It also discusses the potential of decoding the genetic and epigenetic basis of asthma to transform clinical management and predict asthma risk.
Review
Cell Biology
Daniel Richard, Terence D. Capellini, Brian O. Diekman
Summary: The identification of genomic loci associated with osteoarthritis (OA) provides insights into the role of genetic variation in joint catabolic processes. Epigenetic changes during different life stages can modify the risk of OA and need to be considered in genome-wide association studies (GWAS). Gene expression regulation through tissue-specific enhancer activity is important for joint development and susceptibility to OA. Methylation changes and chromatin reorganization during aging can unmask the effects of genetic variants on OA progression.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Cristina Gallego-Fabrega, Elena Muino, Jara Carcel-Marquez, Laia Llucia-Carol, Miquel Lledos, Jesus M. Martin-Campos, Natalia Cullell, Israel Fernandez-Cadenas
Summary: Ischaemic stroke is a complex disease with heritability factors, such as genetics, that could be risk factors. Genome-wide studies have revealed these heritable risk factors and can be useful in understanding stroke mechanisms and finding potential drug targets.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Polyxeni Ntontsi, Andreas Photiades, Eleftherios Zervas, Georgina Xanthou, Konstantinos Samitas
Summary: Asthma, a common respiratory disease worldwide, has been associated with various genes and different phenotypes. Research efforts are now focusing on epigenetics, particularly DNA methylation, in understanding asthma susceptibility.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Endocrinology & Metabolism
Xiaopeng Zhu, Mingfeng Xia, Xin Gao
Summary: Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease worldwide, and metabolic (dysfunction) associated fatty liver disease (MAFLD) has replaced the name NAFLD. Genetic and epigenetic factors play a critical role in the development of MAFLD, including single-nucleotide polymorphisms (SNPs) and DNA methylation. Finding a non-invasive biomarker to distinguish metabolic steatohepatitis (MASH) or liver fibrosis is ongoing.
THERAPEUTIC ADVANCES IN ENDOCRINOLOGY AND METABOLISM
(2022)
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)
Review
Allergy
Katherine A. Owen, Amrie C. Grammer, Peter E. Lipsky
Summary: It has been found that patients of non-European ancestry experience more severe systemic lupus erythematosus (SLE) with different responses to standard medications. Despite extensive research, it remains unclear why ancestry remains a key determinant of poorer outcomes for non-European-ancestry patients. Novel bioinformatic and pathway-based approaches have shed light on the complex genetic architecture linking ancestry to SLE susceptibility.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)
Article
Plant Sciences
Erstelle A. Pasion, Gopal Misra, Ajay Kohli, Nese Sreenivasulu
Summary: A comprehensive study was conducted to explore the genetic architecture of the brown rice ionome, revealing candidate genes and molecular mechanisms underlying micronutrient signatures. Functional pathways were identified using gene regulatory networks, providing important insights on ionome variations in rice and the genome-ionome relationships.
Article
Genetics & Heredity
Bo Yoon Choi, Munsoo Han, Ji Won Kwak, Tae Hoon Kim
Summary: The pathogenesis of allergic rhinitis is closely associated with genetic, environmental, and epigenetic factors. Genotyping of single nucleotide polymorphisms is an advanced technique in molecular genetics that is related to genome-wide association studies. Recent studies have focused on the impact of epigenetic factors such as DNA methylation, histone acetylation, and miRNA levels in the development of allergic rhinitis.
Review
Orthopedics
G. Aubourg, S. J. Rice, P. Bruce-Wootton, J. Loughlin
Summary: Osteoarthritis genetics has made significant progress through large-scale genome-wide association scans. Over 100 genetic risk variants associated with osteoarthritis have been identified, accounting for more than 20% of its heritability. These variants are mainly located in non-protein coding regions of the genome and regulate the expression of target genes. Epigenetic factors, particularly cartilage DNA methylation changes, are also correlated with some of these variants, suggesting a potential mediation of genetic effects on gene expression.
OSTEOARTHRITIS AND CARTILAGE
(2022)
Article
Gastroenterology & Hepatology
Phillip E. E. Melton, M. A. Burton, K. A. Lillycrop, K. M. Godfrey, S. Rauschert, D. Anderson, G. C. Burdge, T. A. Mori, L. J. Beilin, O. T. Ayonrinde, J. M. Craig, J. K. Olynyk, J. D. Holbrook, C. E. Pennell, W. H. Oddy, E. K. Moses, L. A. Adams, R. C. Huang
Summary: Through DNA methylation epigenome-wide association study, we identified novel DNA methylation loci associated with NAFLD and serum liver biochemistry markers during adolescence, implicating putative dmCpG/gene regulatory pathways and providing insights for future mechanistic studies.
HEPATOLOGY INTERNATIONAL
(2023)
Article
Immunology
Seyma Katrinli, Yuanchao Zheng, Aarti Gautam, Rasha Hammamieh, Ruoting Yang, Suresh Venkateswaran, Varun Kilaru, Adriana Lori, Rebecca Hinrichs, Abigail Powers, Charles F. Gillespie, Aliza P. Wingo, Vasiliki Michopoulos, Tanja Jovanovic, Erika J. Wolf, Regina E. McGlinchey, William P. Milberg, Mark W. Miller, Subra Kugathasan, Marti Jett, Mark W. Logue, Kerry J. Ressler, Alicia K. Smith
Summary: The study identified two differentially methylated regions associated with PTSD, one in the gene body of HLA-DPB1 and one in the promoter of SPATC1L. These regions also showed associations with nearby sequence variations and the expression of their respective genes.
BRAIN BEHAVIOR AND IMMUNITY
(2021)
Editorial Material
Genetics & Heredity
Melanie Ehrlich
Summary: Melanie Ehrlich, a professor at Tulane Medical School, has been conducting research in the field of epigenetics, particularly in DNA methylation. Her team has made significant discoveries in DNA methylation, including differences between tissues and cancer cells, as well as specific hypomethylation in sperm. Her research has contributed to our understanding of cancer epigenetics and has implications for other diseases such as immunodeficiency syndrome and facioscapulohumeral muscular dystrophy.
Article
Endocrinology & Metabolism
Khanh Trang, Struan F. A. Grant
Summary: Obesity is a complex trait influenced by both genetic and environmental factors. Advances in genomic technologies have led to the identification of genetic loci associated with obesity, while epigenetic modifications to the genome have been found to play a role as well. This review provides an overview of the genetic and epigenetic contributors to obesity susceptibility and discusses potential mechanisms of action for future interventions.
REVIEWS IN ENDOCRINE & METABOLIC DISORDERS
(2023)
Article
Nutrition & Dietetics
Majid Nikpay, Sepehr Ravati, Robert Dent, Ruth McPherson
Summary: The study identified multiple methylation sites causally contributing to the risk of obesity through a multiomics approach, and validated these findings through replication. The results showed that changes in methylation levels can affect obesity by regulating gene expression. Additionally, rare variants within 2p23.3 region impact obesity risk by influencing the susceptibility of methylation sites and subsequently altering gene expression levels.
Article
Clinical Neurology
Susanna C. Larsson, Matthew Traylor, Stephen Burgess, Giorgio B. Boncoraglio, Christina Jern, Karl Michaelsson, Hugh S. Markus
Article
Clinical Neurology
Caty Carrera, Natalia Cullell, Nuria Torres-Aguila, Elena Muino, Alejandro Bustamante, Antonio Davalos, Elena Lopez-Cancio, Marc Ribo, Carlos A. Molina, Eva Giralt-Steinhauer, Carolina Soriano-Tarraga, Marina Mola-Caminal, Jordi Jimenez-Conde, Jaume Roquer, Cristofol Vives-Bauza, Rosa Diaz Navarro, Victor Obach, Juan Francisco Arenillas, Tomas Segura, Gemma Serrano-Heras, Joan Marti-Fabregas, Marimar Freijo, Juan Antonio Cabezas, Turgut Tatlisumak, Laura Heitsch, Laura Ibanez, Carlos Cruchaga, Jin-Moo Lee, Daniel Strbian, Joan Montaner, Israel Fernandez-Cadenas, Jara Carcel-Marquez, Jonathan Gonzalez, Lucia Munoz, Elisa Cortijo-Garcia, Rebeca Marin Bueno, Aki Havulinna, Veikko Salomaa
Article
Clinical Neurology
Laura Ibanez, Laura Heitsch, Umber Dube, Fabiana H. G. Farias, John Budde, Kristy Bergmann, Rich Davenport, Joseph Bradley, Caty Carrera, Janne Kinnunen, Hanne Sallinen, Daniel Strbian, Agnieszka Slowik, Israel Fernandez-Cadenas, Joan Montaner, Jin-Moo Lee, Carlos Cruchaga
Review
Clinical Neurology
Nuria P. Torres-Aguila, Caty Carrera, Elena Muino, Natalia Cullell, Jara Carcel-Marquez, Cristina Gallego-Fabrega, Jonathan Gonzalez-Sanchez, Alejandro Bustamante, Pilar Delgado, Laura Ibanez, Laura Heitsch, Jerzy Krupinski, Joan Montaner, Joan Marti-Fabregas, Carlos Cruchaga, Jin-Moo Lee, Israel Fernandez-Cadenas
Article
Multidisciplinary Sciences
Natalia Cullell, Caty Carrera, Elena Muino, Nuria-Paz Torres-Aguila, Jara Carcel-Marquez, Jonathan Gonzalez-Sanchez, Cristina Gallego-Fabrega, Jessica Molina, Sarah Besora, Javier Sotoca, Maria-Teresa Buongiorno, Jordi Jimenez-Conde, Eva Giralt-Steinhauer, Reyes de Torres-Chacon, Joan Montaner, Fernando Mancha, Juan A. Cabezas, Joan Marti-Fabregas, Luis Prats-Sanchez, Pol Camps-Renom, Francisco Purroy, Serafi Cambray, Maria del Mar Freijo, Cristofol Vives-Bauz, Silvia Tur, Maria-Angels Font, Elena Lopez-Cancio, Maria Hernandez-Perez, Victor Obach, Ana Calleja, Juan Arenillas, Manuel Rodriguez-Yanez, Jose Castillo, Tomas Sobrino, Israel Fernandez-Cadenas, Jerzy Krupinski
SCIENTIFIC REPORTS
(2020)
Article
Clinical Neurology
E. Muino, A. Bustamante, A. Rodriguez-Campello, C. Gallego-Fabrega, A. Ois, C. Carrera, N. Cullell, N. Torres-Aguila, J. Carcel-Marquez, M. Rubiera, C. A. Molina, E. Cuadrado-Godia, E. Giralt-Steinhauer, J. Jimenez-Conde, J. Montaner, I Fernandez-Cadenas, J. Roquer
JOURNAL OF NEUROLOGY
(2020)
Article
Clinical Neurology
Laura Heitsch, Laura Ibanez, Caty Carrera, Michael M. Binkley, Daniel Strbian, Turgut Tatlisumak, Alejandro Bustamante, Marc Ribo, Carlos Molina, Antoni Davalos, Elena Lopez-Cancio, Lucia Munoz-Narbona, Carol Soriano-Tarraga, Eva Giralt-Steinhauer, Victor Obach, Agnieszka Slowik, Joanna Pera, Katarzyna Lapicka-Bodzioch, Justyna Derbisz, Tomas Sobrino, Jose Castillo, Francisco Campos, Emilio Rodriguez-Castro, Susana Arias-Rivas, Tomas Segura, Gemma Serrano-Heras, Cristofol Vives-Bauza, Rosa Diaz-Navarro, Silva Tur, Carmen Jimenez, Joan Marti-Fabregas, Raquel Delgado-Mederos, Juan Arenillas, Jerzy Krupinski, Natalia Cullell, Nuria P. Torres-Aguila, Elena Muino, Jara Carcel-Marquez, Francisco Moniche, Juan A. Cabezas, Andria L. Ford, Rajat Dhar, Jaume Roquer, Pooja Khatri, Jordi Jimenez-Conde, Israel Fernandez-Cadenas, Joan Montaner, Jonathan Rosand, Carlos Cruchaga, Jin-Moo Lee
Summary: The study investigated the dynamic metric Delta NIHSS6-24h in acute ischemic stroke patients, finding significant associations with long-term outcomes. This metric could serve as a meaningful quantitative phenotype for large-scale genomic studies.
Article
Clinical Neurology
Caty Carrera, Jara Carcel-Marquez, Natalia Cullell, Nuria Torres-Aguila, Elena Muino, Jose Castillo, Tomas Sobrino, Francisco Campos, Emilio Rodriguez-Castro, Laia Llucia-Carol, Monica Millan, Lucia Munoz-Narbona, Elena Lopez-Cancio, Alejandro Bustamante, Marc Ribo, Jose Alvarez-Sabin, Jordi Jimenez-Conde, Jaume Roquer, Eva Giralt-Steinhauer, Carolina Soriano-Tarraga, Marina Mola-Caminal, Cristofol Vives-Bauza, Rosa Diaz Navarro, Silvia Tur, Victor Obach, Juan Francisco Arenillas, Tomas Segura, Gemma Serrano-Heras, Joan Marti-Fabregas, Raquel Delgado-Mederos, M. Mar Freijo-Guerrero, Francisco Moniche, Juan Antonio Cabezas, Mar Castellanos, Cristina Gallego-Fabrega, Jonathan Gonzalez-Sanchez, Jurek Krupinsky, Daniel Strbian, Turgut Tatlisumak, Vincent Thijs, Robin Lemmens, Agnieszka Slowik, Johanna Pera, Steven Kittner, John Cole, Laura Heitsch, Laura Ibanez, Carlos Cruchaga, Jin-Moo Lee, Joan Montaner, Israel Fernandez-Cadenas
Summary: The study identified single nucleotide variants in the ZBTB46 gene that are associated with a higher risk of parenchymal haematoma following recombinant tissue-plasminogen activator treatment.
Article
Clinical Neurology
Matthew Traylor, Elodie Persyn, Liisa Tomppo, Sofia Klasson, Vida Abedi, Mark K. Bakker, Nuria Torres, Linxin Li, Steven Bell, Loes Rutten-Jacobs, Daniel J. Tozer, Christoph J. Griessenauer, Yanfei Zhang, Annie Pedersen, Pankaj Sharma, Jordi Jimenez-Conde, Tatjana Rundek, Raji P. Grewal, Arne Lindgren, James F. Meschia, Veikko Salomaa, Aki Havulinna, Christina Kourkoulis, Katherine Crawford, Sandro Marini, Braxton D. Mitchell, Steven J. Kittner, Jonathan Rosand, Martin Dichgans, Christina Jern, Daniel Strbian, Israel Fernandez-Cadenas, Ramin Zand, Ynte Ruigrok, Natalia Rost, Robin Lemmens, Peter M. Rothwell, Christopher D. Anderson, Joanna Wardlaw, Cathryn M. Lewis, Hugh S. Markus
Summary: 12 loci associated with lacunar stroke were identified, shedding light on the genetic basis and pathogenesis of the disease, including genes influencing vasculature, pericytes, and signaling pathways.
Article
Multidisciplinary Sciences
Elena Muino, Olga Maisterra, Joan Jimenez-Balado, Natalia Cullell, Caty Carrera, Nuria P. Torres-Aguila, Jara Carcel-Marquez, Cristina Gallego-Fabrega, Miquel Lledos, Jonathan Gonzalez-Sanchez, Ferran Olmos-Alpiste, Eva Espejo, Alvaro March, Ramon Pujol, Ana Rodriguez-Campello, Gemma Romeral, Jurek Krupinski, Joan Marti-Fabregas, Joan Montaner, Jaume Roquer, Israel Fernandez-Cadenas
Summary: CADASIL is a small vessel disease caused by mutations in NOTCH3, leading to abnormal protein folding. The overexpression of gene E2F4 is associated with worse executive function and information processing speed in CADASIL patients. Further studies are needed to investigate the potential of E2F4 as a biomarker or therapeutic target for CADASIL.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Nuria P. Torres-Aguila, Marika Salonna, Stefan Hoppler, David E. K. Ferrier
Summary: Wnt signaling is essential for animal development, regeneration and also plays a role in diseases. TCF/LEF proteins mediate Wnt/beta-catenin-regulated gene expression. Vertebrates possess a high diversity of TCF/LEF family genes compared to invertebrates, suggesting changes in Wnt signaling during vertebrate evolution. This study clarifies the relationships within the TCF/LEF gene family in chordates through comparative analysis of gene structure, molecular phylogeny, and gene synteny. The results suggest that the four TCF/LEF paralog subfamilies in jawed vertebrates evolved through two rounds of whole-genome duplications. The TCF gene structure in jawless vertebrates resembles the ancestral vertebrate structure.
DEVELOPMENT GROWTH & DIFFERENTIATION
(2022)
Article
Clinical Neurology
Laura Ibanez, Laura Heitsch, Caty Carrera, Fabiana H. G. Farias, Jorge L. Del Aguila, Rajat Dhar, John Budde, Kristy Bergmann, Joseph Bradley, Oscar Harari, Chia Ling Phuah, Robin Lemmens, Alessandro A. Viana Oliveira Souza, Francisco Moniche, Antonio Cabezas-Juan, Juan Francisco Arenillas, Jerzy Krupinksi, Natalia Cullell, Nuria Torres-Aguila, Elena Muino, Jara Carcel-Marquez, Joan Marti-Fabregas, Raquel Delgado-Mederos, Rebeca Marin-Bueno, Alejandro Hornick, Cristofol Vives-Bauza, Rosa Diaz Navarro, Silvia Tur, Carmen Jimenez, Victor Obach, Tomas Segura, Gemma Serrano-Heras, Jong Won Chung, Jaume Roquer, Carol Soriano-Tarraga, Eva Giralt-Steinhauer, Marina Mola-Caminal, Joanna Pera, Katarzyna Lapicka-Bodzioch, Justyna Derbisz, Antoni Davalos, Elena Lopez-Cancio, Lucia Munoz, Turgut Tatlisumak, Carlos Molina, Marc Ribo, Alejandro Bustamante, Tomas Sobrino, Jose Castillo-Sanchez, Francisco Campos, Emilio Rodriguez-Castro, Susana Arias-Rivas, Manuel Rodriguez-Yanez, Christina Herbosa, Andria L. Ford, Alonso Gutierrez-Romero, Rodrigo Uribe-Pacheco, Antonio Arauz, Iscia Lopes-Cendes, Theodore Lowenkopf, Miguel A. Barboza, Hajar Amini, Boryana Stamova, Bradley P. Ander, Frank R. Sharp, Gyeong Moon Kim, Oh Young Bang, Jordi Jimenez-Conde, Agnieszka Slowik, Daniel Stribian, Ellen A. Tsai, Linda C. Burkly, Joan Montaner, Israel Fernandez-Cadenas, Jin Moo Lee, Carlos Cruchaga
Summary: This study aimed to determine the genetic architecture of early neurological instability after stroke. It identified eight significant loci that are associated with neurological instability, suggesting that excitotoxicity may contribute to this instability.
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)
Meeting Abstract
Clinical Neurology
J. Carcel-Marquez, N. P. Torres-Aguila, E. Muino, C. Carrera, N. Cullell, C. Gallego Fabrega, J. Jimenez-Conde, P. Camps-Renom, L. Prats-Sanchez, J. Montaner, J. Krupinski, J. Marti-Fabregas, I. Fernandez-Cadenas
INTERNATIONAL JOURNAL OF STROKE
(2020)
Meeting Abstract
Clinical Neurology
N. Cullell, C. Soriano-Tarraga, C. Gallego-Fabrega, J. Carcel-Marquez, C. Carrera, N. P. Torres-Aguila, E. Muino, M. Esteller, M. Castro De Moura, J. Montaner, R. Elosua, A. Fernandez-Sanles, J. Marti-Fabregas, J. Krupinski, J. Roquer, J. Jimenez-Conde, I. Fernandez-Cadenas
INTERNATIONAL JOURNAL OF STROKE
(2020)
