Article
Health Care Sciences & Services
Maria Carmela Padula, Angela Anna Padula, Salvatore D'Angelo, Nancy Lascaro, Rosa Paola Radice, Giuseppe Martelli, Pietro Leccese
Summary: This study investigated the association between rs1800629 genotypes and responses to anti-TNFa therapy in Behcet syndrome patients. The results showed that rs1800629 GG and GA genotypes were associated with treatment response, but there was no correlation between SNP and clinical patterns. Larger and well-characterised cohorts are needed to confirm rs1800629 as a predictive biomarker for TNFa inhibitor response.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Nicholas A. Kennedy, James R. Goodhand, Claire Bewshea, Rachel Nice, Desmond Chee, Simeng Lin, Neil Chanchlani, Jeffrey Butterworth, Rachel Cooney, Nicholas M. Croft, Ailsa L. Hart, Peter M. Irving, Klaartje B. Kok, Christopher A. Lamb, Jimmy K. Limdi, Jonathan Macdonald, Dermot Pb McGovern, Shameer J. Mehta, Charles D. Murray, Kamal Patel, Richard C. G. Pollok, Timothy Raine, Richard K. Russell, Christian P. Selinger, Philip J. Smith, Jack Bowden, Timothy J. McDonald, Charlie W. Lees, Shaji Sebastian, Nicholas Powell, Tariq Ahmad
Summary: The study found that patients with inflammatory bowel disease treated with infliximab had attenuated serological responses to SARS-CoV-2 infection. Additionally, the serological response to SARS-CoV-2 infection in the infliximab-treated group was further blunted by concomitant use of immunomodulators.
Article
Biochemistry & Molecular Biology
Amin Ravaei, Lia Pulsatelli, Elisa Assirelli, Jacopo Ciaffi, Riccardo Meliconi, Carlo Salvarani, Marcello Govoni, Michele Rubini
Summary: This study investigated the association of two RA-related genetic polymorphisms in the MTHFR gene as response markers to an anti-TNF-alpha therapy. The results showed that both polymorphisms were associated with a response to therapy in an allele dose-dependent manner. This suggests a potential significance of one-carbon metabolism in anti-TNF-alpha drug efficacy for personalized RA interventions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Zuzana Reiss, Filip Rob, Martin Kolar, Dagmar Schierova, Jakub Kreisinger, Zuzana Jackova, Radka Roubalova, Stepan Coufal, Martin Mihula, Tomas Thon, Lukas Bajer, Michaela Novakova, Martin Vasatko, Klara Kostovcikova, Natalie Galanova, Milan Lukas, Miloslav Kverka, Jana Tresnak Hercogova, Helena Tlaskalova-Hogenova, Zuzana Jiraskova Zakostelska
Summary: This study analyzed the temporal dynamics of skin microbiota and serum markers during anti-TNF therapy in IBD patients and found specific shifts in skin microbiota profile and a decrease in serum levels of L-FABP and I-FABP associated with anti-TNF-related skin adverse events.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Cell Biology
Dagmar Schierova, Radka Roubalova, Martin Kolar, Zuzana Stehlikova, Filip Rob, Zuzana Jackova, Stepan Coufal, Tomas Thon, Martin Mihula, Martin Modrak, Miloslav Kverka, Lukas Bajer, Klara Kostovcikova, Pavel Drastich, Jana Hercogova, Michaela Novakova, Martin Vasatko, Milan Lukas, Helena Tlaskalova-Hogenova, Zuzana Jiraskova Zakostelska
Summary: This study investigated the longitudinal effect of anti-TNF therapy on gut microbiota composition and immune response in IBD patients. The results showed differences in microbiota diversity between healthy controls, Crohn's disease, and ulcerative colitis patients, with patients' microbiota becoming more similar to healthy controls after treatment. Additionally, increased IgM levels against specific gut commensals were observed after anti-TNF therapy.
Article
Genetics & Heredity
Paraskevi Nani, Melpomeni Ladopoulou, Evgenia H. Papaioannou, Evangelia D. Papagianni, Charalabos Antonatos, Panagiotis Xiropotamos, Andreas Kapsoritakis, Petros S. Potamianos, Konstantinos Karmiris, Charalambos Tzathas, Aikaterini Patsatsi, Elisavet Lazaridou, Efterpi Zafiriou, Angeliki Roussaki-Schulze, Sophia Georgiou, Katerina Grafanaki, Georgios K. Georgakilas, Yiannis Vasilopoulos
Summary: This study investigated the association between MIR155 rs767649 variant and response to anti-TNF therapy in Greek CD and PsO patients. The results showed a significant correlation between the rs767649 variant and therapeutic response in PsO patients, suggesting its potential use as a pharmacogenetic biomarker.
Review
Gastroenterology & Hepatology
Dorina Bajzat, Adrienn F. Keri, Marcell Imrei, Tamas Koi, Andrea Parniczky, Peter Hegyi, Kinga Kovacs, Szilard Vancsa, Katalin Eszter Mueller
Summary: This study aimed to investigate the association between preoperative anti-TNF-alpha treatment and postoperative complications in pediatric patients with inflammatory bowel disease (IBD). The results showed no significant association between preoperative anti-TNF-alpha therapy and postoperative complications in children with IBD after intestinal resection.
INFLAMMATORY BOWEL DISEASES
(2023)
Review
Biochemistry & Molecular Biology
Fang-fang Dai, Min Hu, Yu-wei Zhang, Rong-hui Zhu, Li-ping Chen, Zhi-dian Li, Yan-jie Huang, Wei Hu, Yan-xiang Cheng
Summary: This study reviewed the effects of TNF-alpha disorder on pathological conditions during pregnancy and summarized the impact of anti-TNF-alpha drugs on adverse pregnancy outcomes. Intrauterine growth restriction, spontaneous abortion, and preterm birth were found to be the most common adverse pregnancy outcomes associated with anti-TNF-alpha drugs.
EXPERT REVIEWS IN MOLECULAR MEDICINE
(2022)
Article
Psychiatry
Danilo Jokovic, Filip Milosavljevic, Zvezdana Stojanovic, Gordana Supic, Danilo Vojvodic, Bojana Uzelac, Marin M. Jukic, Aleksandra Petkovic Curcin
Summary: The inter-individual variability in CYP2C19-mediated metabolism can impact the effectiveness and tolerability of antidepressant treatment. This study found that individuals with slow metabolism showed lower antidepressant efficacy and tolerability compared to normal metabolizers, possibly due to their reduced capacity to metabolize antidepressant drugs.
PSYCHIATRY RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Valeria Opazo-Toro, Virginia Fortuna, Wladimiro Jimenez, Marta Pazos Lopez, Maria Jesus Muniesa Royo, Nestor Ventura-Abreu, Merce Brunet, Elena Milla
Summary: This study analyzed the genotype of glaucoma and ocular hypertension patients and examined its correlation with their response to beta-blockers and prostaglandin analogues. The results showed that patients carrying a mutated allele had higher intraocular pressure and more severe visual field damage.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pharmacology & Pharmacy
Manal Ali Buabeid, Hafiza Sidra Yaseen, Muhammad Asif, Ghulam Murtaza, El-Shaimaa A. Arafa
Summary: This study evaluates the anti-inflammatory and anti-angiogenic potential of Moringa olifera extract and Moringa-loaded nanoclay films. The results show that Moringa has anti-inflammatory and anti-angiogenic effects, indicating its therapeutic potential against chronic diseases.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Gastroenterology & Hepatology
Kengo Kanayama, Jun Kato, Wataru Shiratori, Ariki Nagashima, Yuki Ohta, Takashi Taida, Keiko Saito, Chihiro Goto, Satsuki Takahashi, Ryosuke Horio, Akane Kurosugi, Tsubasa Ishikawa, Tatsuya Kaneko, Naoki Akizue, Kenichiro Okimoto, Tomoaki Matsumura, Naoya Kato
Summary: This study found that selecting subsequent treatment based on the response to initial anti-tumor necrosis factor (TNF)alpha antibody (ATA) is feasible in refractory ulcerative colitis (UC) patients. Non-ATA may be suitable as subsequent biologics for UC patients regardless of the efficacy of the first ATA.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Medicine, General & Internal
Suraj Sakaram, Yehudit Hasin-Brumshtein, Purvesh Khatri, Yudong D. He, Timothy E. Sweeney
Summary: The study identified a robust gene signature for predicting the response of IBD patients to anti-TNF-alpha treatment prior to initiation. These seven genes can effectively distinguish between responders and non-responders to anti-TNF-alpha, showing high sensitivity, specificity, and accuracy in predicting patient responsiveness.
Review
Medicine, General & Internal
Gian Marco Leone, Katia Mangano, Maria Cristina Petralia, Ferdinando Nicoletti, Paolo Fagone
Summary: Due to the important role of TNF-alpha in immunoinflammatory diseases, TNF-alpha inhibitors have been successfully developed and used in the treatment of autoimmune disorders. Currently, there are five approved anti-TNF-alpha drugs and biosimilars available. This review discusses the historical development, current and potential future applications, as well as the search for biomarkers to predict responsiveness to these therapies.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Oncology
Yue Ma, Zhuo Yang, Jing Liu, Danbo Wang
Summary: This study identified molecular targets related to T cell infiltration in cervical cancer and identified CD48 as a key molecule involved in the progression and prognosis of cervical cancer. These findings provide new insights into the development of molecular therapy and immunotherapy against cervical cancer.
Article
Biochemistry & Molecular Biology
Yichuan Liu, Hui-Qi Qu, Frank D. Mentch, Jingchun Qu, Xiao Chang, Kenny Nguyen, Lifeng Tian, Joseph Glessner, Patrick M. A. Sleiman, Hakon Hakonarson
Summary: Diagnosing mental disorders, especially for patients with multiple disorders, can be challenging. However, deep learning algorithms combined with genomic sequencing data show promise in accurately diagnosing mental disorders and identifying potential drug targets. Non-coding genomic variants may serve as alternative markers for mental disorders.
MOLECULAR PSYCHIATRY
(2022)
Article
Biochemistry & Molecular Biology
Ryan L. Collins, Joseph T. Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella, Lide Han, Theodore Morley, Lisa-Marie Niestroj, Jacob Ulirsch, Selin Everett, Daniel P. Howrigan, Philip M. Boone, Jack Fu, Konrad J. Karczewski, Georgios Kellaris, Chelsea Lowther, Diane Lucente, Kiana Mohajeri, Margit Noukas, Xander Nuttle, Kaitlin E. Samocha, Mi Trinh, Farid Ullah, Urmo Vosa, Matthew E. Hurles, Swaroop Aradhya, Erica E. Davis, Hilary Finucane, James F. Gusella, Aura Janze, Nicholas Katsanis, Ludmila Matyakhina, Benjamin M. Neale, David Sanders, Stephanie Warren, Jennelle C. Hodge, Dennis Lal, Douglas M. Ruderfer, Jeanne Meck, Reedik Magi, Tonu Esko, Alexandre Reymond, Zoltan Kutalik, Hakon Hakonarson, Shamil Sunyaev, Harrison Brand, Michael E. Talkowski
Summary: This study aims to quantify the properties of haploinsufficiency and triplosensitivity throughout the human genome and construct a genome-wide catalog of dosage sensitivity for 54 disorders. The study identified dosage sensitive segments and developed a machine-learning model to predict probabilities of dosage sensitivity for all autosomal genes.
Article
Clinical Neurology
Isabella Slaby, Heather S. Hain, Debra Abrams, Frank D. Mentch, Joseph T. Glessner, Patrick M. A. Sleiman, Hakon Hakonarson
Summary: This study established a new algorithm and demonstrated the feasibility of using an electronic algorithm approach to accurately diagnose ADHD and comorbid conditions, verifying the efficiency of the large biorepository for further genetic discovery-based analyses.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
Joseph T. Glessner, Jin Li, Yichuan Liu, Munir Khan, Xiao Chang, Patrick M. A. Sleiman, Hakon Hakonarson
Summary: This study proposes a next-generation approach to CNV association, which supports VCF specification and PennCNV format, allowing for fast and efficient analysis of large cohorts. The study also emphasizes the importance of CNV curation and clinical applications.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Hui-Qi Qu, Charlly Kao, James Garifallou, Fengxiang Wang, James Snyder, Diana J. Slater, Cuiping Hou, Michael March, John J. Connolly, Joseph T. Glessner, Hakon Hakonarson
Summary: This study investigated the impact of varying time periods from blood draw to PBMC isolation on the subsequent transcriptome profiling of different cell types in PBMCs using single cell RNA-seq. The results showed significant changes in the transcriptome expression of various cell types over time, highlighting the importance of considering this factor in interpreting experimental results.
Article
Physiology
Ellen Besa, Mizinga Jacqueline Tembo, Chola Mulenga, Monica Mweetwa, Naheed Choudhry, Kanta Chandwe, Chad Storer, Richard Head, Beatrice Amadi, Talin Haritunians, Dermot McGovern, Geoffrey Kwenda, Madusha Peiris, Paul Kelly
Summary: The central question of this study is whether non-responsive stunting is related to the loss of enteroendocrine cells in the gastrointestinal tract. The main finding of the study is that, unlike Paneth and goblet cells, enteroendocrine cells were not lost in stunted children. However, genetic analysis suggests a possible link between genetic transcripts and the variability of GLP-2 levels in the blood.
EXPERIMENTAL PHYSIOLOGY
(2023)
Article
Gastroenterology & Hepatology
Marzieh Akhlaghpour, Talin Haritunians, Shyam K. More, Lisa S. Thomas, Dalton T. Stamps, Shishir Dube, Dalin Li, Shaohong Yang, Carol J. Landers, Emebet Mengesha, Hussein Hamade, Ramachandran Murali, Alka A. Potdar, Andrea J. Wolf, Gregory J. Botwin, Michelle Khrom, Bana Int IBD Genetics, Ashwin N. Ananthakrishnan, William A. Faubion, Bana Jabri, Sergio A. Lira, Rodney D. Newberry, Robert S. Sandler, R. Balfour Sartor, Ramnik J. Xavier, Steven R. Brant, Judy H. Cho, Richard H. Duerr, Mark G. Lazarev, John D. Rioux, L. Philip Schumm, Mark S. Silverberg, Karen Zaghiyan, Phillip Fleshner, Gil Y. Melmed, Eric A. Vasiliauskas, Christina Ha, Shervin Rabizadeh, Gaurav Syal, Nirupama N. Bonthala, David A. Ziring, Stephan R. Targan, Millie D. Long, Dermot P. B. McGovern, Kathrin S. Michelsen
Summary: In this study, a genetic association was found between perianal Crohn's disease (pCD) and a mutation in the CFB gene, which impairs its function and contributes to the occurrence and development of pCD in patients with Crohn's disease.
Article
Gastroenterology & Hepatology
Michelle Khrom, Dalin Li, Takeo Naito, Ho-Su Lee, Gregory J. Botwin, Alka A. Potdar, Gabrielle Boucher, Shaohong Yang, Emebet Mengesha, Shishir Dube, Kyuyoung Song, P. B. Dermot, Talin Haritunians
Summary: The study identified novel genetic loci associated with sex differences in inflammatory bowel disease (IBD), including variants on chromosome 2 and the major histocompatibility complex. A novel chromosome X locus was also identified as a susceptibility locus for Crohn's disease.
INFLAMMATORY BOWEL DISEASES
(2023)
Article
Multidisciplinary Sciences
Yiming Wu, Kyle Gettler, Meltem Ece Kars, Mamta Giri, Dalin Li, Cigdem Sevim Bayrak, Peng Zhang, Aayushee Jain, Patrick Maffucci, Ksenija Sabic, Tielman Van Vleck, Girish Nadkarni, Lee A. Denson, Harry Ostrer, Adam P. Levine, Elena R. Schiff, Anthony W. Segal, Subra Kugathasan, Peter D. Stenson, David N. Cooper, L. Philip Schumm, Scott Snapper, Mark J. Daly, Talin Haritunians, Richard H. Duerr, Mark S. Silverberg, John D. Rioux, Steven R. Brant, Dermot P. B. McGovern, Judy H. Cho, Yuval Itan
Summary: In this study, novel IBD-associated variants and genes are identified by sequencing the genomes of 4453 Ashkenazi Jewish IBD cases and controls. The physiological relevance of these genes to IBD is demonstrated through biological pathway analyses and RNA sequencing. The study also reveals the genetic overlap between adult IBD in Ashkenazi Jews and early-onset IBD, as well as the pleiotropic effects of IBD genes on other immune responses. Lastly, it is shown that polygenic risk score analyses based on high impact variants have high predictive power for IBD susceptibility.
NATURE COMMUNICATIONS
(2023)
Article
Multidisciplinary Sciences
Monica N. Mweetwa, Talin Haritunians, Shishir Dube, Kanta Chandwe, Beatrice Amadi, Kanekwa Zyambo, Ta-Chiang Liu, Dermot McGovern, Paul Kelly
Summary: The study revealed that genetic variations are associated with stunting and enteropathy, involving pathways related to gene expression, nerve signaling, microbial translocation, and inflammation.
Article
Clinical Neurology
Joseph T. Glessner, Munir E. Khan, Xiao Chang, Yichuan Liu, F. George Otieno, Maria Lemma, Isabella Slaby, Heather Hain, Frank Mentch, Jin Li, Charlly Kao, Patrick M. A. Sleiman, Michael E. March, John Connolly, Hakon Hakonarson
Summary: Neurodevelopmental disorders (NDDs), such as ADHD and ASD, have complex genetic associations implicated by rare recurrent CNVs. Investigating shared biological pathways and genes can help understand the underlying biology of these disorders and identify potential risk factors.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2023)
Meeting Abstract
Gastroenterology & Hepatology
Phillip Gu, Shishir Dube, Norman Gellada, Dalin Li, Talin Haritunians, Eric A. Vasiliauskas, Christina Ha, Gaurav Syal, Nirupama Bonthala, Shaohong Yang, Phillip Fleshner, Gil Melmed, Mazen Noureddin, Cindy Kallman, Stephan R. Targan, Dermot P. B. Mcgovern
Meeting Abstract
Gastroenterology & Hepatology
Justin Kern, Atika Malique, Talin Haritunians, Umang Jain, Shengxiang Sun, Yo Sasaki, Brian Muegge, Chad Storer, Dermot P. B. Mcgovern, Richard D. Head, Paul Kelly, Ta-Chiang Liu
Meeting Abstract
Gastroenterology & Hepatology
Justin Kern, Talin Haritunians, Xiang Wang, Atika Malique, Anketse Debebe, Samuel Ballentine, Hoang Nguyen, Javier De Vicente, Annie Arguello, Anastasia Henry, Inga Peter, Dermot P. B. Mcgovern, Anthony Estrada, Thaddeus S. Stappenbeck, Ta-Chiang Liu
Meeting Abstract
Gastroenterology & Hepatology
Changqing Ma, Anas K. Gremida, Gaurav Syal, Janaki Shah, Shaohong Yang, Talin Haritunians, Phillip Fleshner, Matthew A. Ciorba, Dermot P. B. Mcgovern, Ta-Chiang Liu