Review
Medicine, Research & Experimental
Hamidreza Ebrahimiyan, Shayan Mostafaei, Saeed Aslani, Seyedeh Tahereh Faezi, Elham Farhadi, Ahmadreza Jamshidi, Mahdi Mahmoudi
Summary: In this study, a meta-analysis was performed to investigate the association between ITGAM gene rs1143679 SNP and MBL gene rs1800451 SNP with SLE risk. The results showed a significant positive association between rs1143679 and SLE risk, while rs1800451 was significantly associated with decreased susceptibility to SLE.
CLINICAL AND EXPERIMENTAL MEDICINE
(2022)
Article
Immunology
Lu Cao, Ruixue Zhang, Yirui Wang, Xia Hu, Liang Yong, Bao Li, Huiyao Ge, Weiwei Chen, Qi Zhen, Yafen Yu, Yiwen Mao, Zhuo Li, Wencheng Fan, Liangdan Sun
Summary: This study conducted fine mapping analysis and found the most significant MHC variants associated with vitiligo and SLE in the Han population. Additional independent signals were also identified. Genetic correlation analysis confirmed the similar genetic backgrounds of vitiligo and SLE in the HLA region.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Medicine, General & Internal
Ami Schattner
Summary: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with diverse and atypical presentations. Early diagnosis is crucial for better outcomes, but the nonspecific symptoms and unusual organ involvement often lead to diagnostic delays.
AMERICAN JOURNAL OF MEDICINE
(2022)
Article
Immunology
Tingting Zhu, Yuandi Huang, Danfeng Qian, Yuming Sheng, Chaowen Zhang, Shirui Chen, Hui Zhang, Hui Wang, Xuejun Zhang, Junlin Liu, Changhai Ding, Lu Liu
Summary: The study identified a polymorphism in the ZFP90 gene associated with SLE in a GWAS, suggesting a potential role in the pathogenesis of SLE and its contribution to therapeutic drug discovery.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Matthieu Halfon, Li Zhang, Driss Ehirchiou, Vishnuprabu Durairaj Pandian, Suzan Dahdal, Uyen Huynh-Do, Andreas Pasch, Camillo Ribi, Nathalie Busso
Summary: The CD11B R77H gene variant is associated with increased serum calcification propensity and lower C3 levels in SLE patients, indicating an increased cardiovascular risk in homozygous individuals.
Article
Multidisciplinary Sciences
Guojun Hou, Isaac T. W. Harley, Xiaoming Lu, Tian Zhou, Ning Xu, Chao Yao, Yuting Qin, Ye Ouyang, Jianyang Ma, Xinyi Zhu, Xiang Yu, Hong Xu, Dai Dai, Huihua Ding, Zhihua Yin, Zhizhong Ye, Jun Deng, Mi Zhou, Yuanjia Tang, Bahram Namjou, Ya Guo, Matthew T. Weirauch, Leah C. Kottyan, John B. Harley, Nan Shen
Summary: This study identified a risk variant for systemic lupus erythematosus, which disrupts a regulatory element and modulates miR-146a expression. The variant tags a cell-type specific distal enhancer that interacts with the miR-146a promoter, affecting NF-kB binding and miR-146a expression. Furthermore, CRISPR activation-based modulation of this enhancer attenuates type I interferon pathway activation in SLE patients by increasing miR-146a expression.
NATURE COMMUNICATIONS
(2021)
Article
Immunology
Ting-Yu Tu, Chiu-Yu Yeh, Yao-Min Hung, Renin Chang, Hsin-Hua Chen, James Cheng-Chung Wei
Summary: The study revealed the association between NTS infection and the risk of SLE, particularly in individuals living in rural areas and those with other autoimmune diseases.
FRONTIERS IN IMMUNOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Helena Idborg, Vilija Oke
Summary: Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease characterized by activation and dysregulation of the immune system. Disturbances in immune pathways and genetic susceptibility are key factors in the development of SLE. Dysregulation of cytokines, particularly interferons, has been extensively studied as potential biomarkers and treatment targets in SLE.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Alison R. Barton, Maxwell A. Sherman, Ronen E. Mukamel, Po-Ru Loh
Summary: This study leveraged haplotype sharing in the UK Biobank to impute exome-wide variants and identified significant associations involving rare protein-altering variants. The research revealed significant associations in multiple genes and proposed allelic series containing multiple "likely-causal" variants.
Review
Immunology
Amirhossein Azari Jafari, Mojtaba Keikha, Seyyedmohammadsadeq Mirmoeeni, Mohammad Taghi Rahimi, Reza Jafari
Summary: The study systematically reviewed the use of live parasites or parasitic products in treating mouse models of SLE, demonstrating potential immunomodulating effects on improving immunologic cells and pathological changes.
AUTOIMMUNITY REVIEWS
(2021)
Article
Genetics & Heredity
Wen Ma, Yu-Lung Lau, Wanling Yang, Yong-Fei Wang
Summary: The study aimed to improve SLE prediction accuracy using machine-learning algorithms, and the results showed that the random forest (RF) model performed well in SLE classification.
FRONTIERS IN GENETICS
(2022)
Article
Immunology
Chiharu Hidekawa, Ryusuke Yoshimi, Yusuke Saigusa, Jun Tamura, Noriko Kojitani, Naoki Suzuki, Natsuki Sakurai, Yuji Yoshioka, Yumiko Sugiyama-Kawahara, Yosuke Kunishita, Daiga Kishimoto, Kana Higashitani, Yuichiro Sato, Takaaki Komiya, Hideto Nagai, Naoki Hamada, Ayaka Maeda, Naomi Tsuchida, Lisa Hirahara, Yutaro Soejima, Kaoru Takase-Minegishi, Yohei Kirino, Nobuyuki Yajima, Ken-ei Sada, Yoshia Miyawaki, Kunihiro Ichinose, Shigeru Ohno, Hiroshi Kajiyama, Shuzo Sato, Yasuhiro Shimojima, Michio Fujiwara, Hideaki Nakajima
Summary: Hydroxychloroquine may help extend the time until the occurrence of infection complications in patients with systemic lupus erythematosus and tends to decrease infection rates.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Viktoryia Laurynenka, Lili Ding, Kenneth M. Kaufman, Judith A. James, John B. Harley
Summary: The association between EBV infection and SLE is reconfirmed, and the presence of anti-EBNA1 antibodies in SLE cases is more frequent than in EBV-infected controls, supporting the hypothesis that anti-EBNA1 contributes to SLE.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Tao Ming Sim, Siying Jane Ong, Anselm Mak, Sen Hee Tay
Summary: This review discusses the bench to bedside translation of the type I IFN pathway and explores some unresolved issues when selecting SLE patients for treatment with biologics targeting type I IFNs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Immunology
Tomohiro Koga, Kunihiro Ichinose, George C. Tsokos
Summary: Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organs. Immune abnormalities contribute to the expression of the disease, with elements of the immune system instigating cellular damage. Correcting immune aberrations and preventing organ damage are both important.
CLINICAL IMMUNOLOGY
(2022)
Article
Rheumatology
Samantha Slight-Webb, Carla J. Guthridge, Joseph Kheir, Hua Chen, Ly Tran, Tim Gross, Virginia Roberts, Sohail Khan, Michael Peercy, Bobby Saunkeah, Joel M. Guthridge, Judith A. James
Summary: This study used a machine learning approach to identify immune signatures that can effectively differentiate Native American patients with rheumatic disease. The serum protein signatures can assist with early diagnoses and guide personalized treatment approaches.
ARTHRITIS CARE & RESEARCH
(2023)
Article
Gastroenterology & Hepatology
Yuki Okawa, Yusuke Iwasaki, Todd A. Johnson, Nobutaka Ebata, Chihiro Inai, Mikiko Endo, Kazuhiro Maejima, Shota Sasagawa, Masashi Fujita, Koichi Matsuda, Yoshinori Murakami, Toru Nakamura, Satoshi Hirano, Yukihide Momozawa, Hidewaki Nakagawa
Summary: This study investigates the relationship between biliary tract cancers (BTCs) and variants in homologous recombination-related genes. The study found that pathogenic germline variants in genes such as BRCA1, BRCA2, APC, and MSH6 are associated with BTCs. PALB2 variants are marginally associated with BTCs. Additionally, the study identified BTCs with homologous recombination deficiency through whole-genome sequencing, providing insights for screening and therapeutic strategies for BTCs.
JOURNAL OF HEPATOLOGY
(2023)
Article
Rheumatology
Melissa E. E. Munroe, Derek Blankenship, Daniele DeFreese, Mohan Purushothaman, Wade DeJager, Susan Macwana, Joel M. M. Guthridge, Stan Kamp, Nancy Redinger, Teresa Aberle, Eliza F. F. Chakravarty, Cristina Arriens, Yanfeng Li, Hu Zeng, Kathleen A. A. McCarthy-Fruin, Shirley-Ann Osei-Onomahm, Uma Thanarajasingam, Judith A. A. James, Eldon Jupe
Summary: Using a unique longitudinal cohort of SLE patients, this study identified immune mediators that can predict imminent disease flare, providing valuable insights for proactive management and prevention.
ARTHRITIS & RHEUMATOLOGY
(2023)
Correction
Multidisciplinary Sciences
Bhuwan Khatri, Kandice Tessneer, Astrid Rasmussen, Farhang Aghakhanian, Tove Ragna Reksten, Adam A. Adler, Ilias Alevizos, Juan-Manuel G. Anaya, Lara Aqrawi, Eva Baecklund, Johan Brun, Sara Magnusson Bucher, Maija-Leena B. Eloranta, Fiona Engelke, Helena Forsblad-d'Elia, Stuart Glenn, Daniel Hammenfors, Juliana V. Imgenberg-Kreuz, Janicke Liaaen Jensen, Svein Joar Auglaend A. Johnsen, Malin Jonsson, Marika Kvarnstroem, Jennifer Kelly, He Li, Thomas Mandl, Javier Martin, Gaetane Nocturne, Katrine Braekke M. Norheim, Oyvind E. Palm, Kathrine Skarstein, Anna Stolarczyk, Kimberly Taylor, Maria J. Teruel, Elke M. Theander, Swamy S. Venuturupalli, Daniel Wallace, Kiely M. Grundahl, Kimberly U. Hefner, Lida Radfar, David T. Lewis, Donald M. Stone, C. Erick A. Kaufman, Michael Brennan, Joel M. Guthridge, Judith A. James, R. Hal Scofield, Patrick Gaffney, Lindsey J. Criswell, Roland Jonsson, Per Eriksson, Simon Bowman, Roald Omdal, Lars Roennblom, Blake Warner, Maureen Rischmueller, Torsten E. Witte, A. Darise H. Farris, Xavier Mariette, Marta Alarcon-Riquelme, Caroline L. Shiboski, Marie Wahren-Herlenius, Wan-Fai Ng, Kathy J. Sivils, Indra Adrianto, Gunnel Nordmark, Christopher Lessard
NATURE COMMUNICATIONS
(2023)
Article
Clinical Neurology
Alexander J. Davies, Cinta Lleixa, Ana M. Siles, Dawn S. Gourlay, Georgina Berridge, Wanwisa Dejnirattisai, Carolina Ramirez-Santana, Juan-Manuel Anaya, Andrew K. Falconar, Claudia M. Romero-Vivas, Lyda Osorio, Beatriz Parra, Gavin R. Screaton, Juthathip Mongkolsapaya, Roman Fischer, Carlos A. Pardo, Susan K. Halstead, Hugh J. Willison, Luis Querol, Simon Rinaldi
Summary: By screening the sera of patients with Zika virus (ZIKV) with and without Guillain-Barre syndrome (GBS), researchers discovered the presence of autoantibodies targeting peripheral nerves. This suggests that Zika virus infection may lead to immune-mediated neurologic symptoms.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Article
Biology
Masato Akiyama, Saori Sakaue, Atsushi Takahashi, Kazuyoshi Ishigaki, Makoto Hirata, Koichi Matsuda, Yukihide Momozawa, Yukinori Okada, Toshiharu Ninomiya, Yoichiro Biobank Japan project, Chikashi Terao, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani
Summary: A genome-wide association study conducted on the BioBank Japan cohort identified a novel locus, BET1L, associated with survival time in the Japanese population. This study also found a significant overlap between BET1L and eQTL in skeletal muscle, indicating its potential impact on lifespan. Furthermore, gene-set enrichment analysis revealed other genes and biological mechanisms related to survival time.
COMMUNICATIONS BIOLOGY
(2023)
Editorial Material
Public, Environmental & Occupational Health
Lori B. Bateman, Allyson G. Hall, William A. Anderson, Andrea L. Cherrington, Anna Helova, Suzanne Judd, Robert Kimberly, Gabriela R. Oates, Tiffany Osborne, Corilyn Ott, Melissa Ryan, Christian Strong, Mona N. Fouad
Summary: This submission is a response to a recent Letter to the Editor regarding our manuscript published in the American Journal of Health Promotion in February 2022. The manuscript explored perceptions of COVID-19 vaccination intention among African American and Latinx participants and proposed potential intervention strategies.
AMERICAN JOURNAL OF HEALTH PROMOTION
(2023)
Article
Immunology
Pedro Santos-Moreno, Julian Arias-Aponte, Gabriel-Santiago Rodriguez-Vargas, Paula Daniela Nieto-Zambrano, Laura Villarreal, Linda Ibata, Susan Martinez, Jaime-Andres Rubio-Rubio, Pedro Rodriguez, Adriana Rojas-Villarraga
Summary: This study aimed to assess the frequency and associated factors of polyautoimmunity (PolyA) in Colombian patients with systemic lupus erythematosus (SLE). The results identified age, xerophthalmia, central nervous system occlusion, and deep vein thrombosis as factors associated with PolyA. Renal impairment was significantly less frequent in PolyA patients.
JOURNAL OF TRANSLATIONAL AUTOIMMUNITY
(2023)
Article
Pharmacology & Pharmacy
Keiko Yamazaki, Chikashi Terao, Atsushi Takahashi, Yoichiro Kamatani, Koichi Matsuda, Satoshi Asai, Yasuo Takahashi
Summary: Resistant hypertension refers to uncontrolled blood pressure despite the use of multiple antihypertensive drugs. The pathogenesis of resistant hypertension is still unclear, although genetic factors may play a significant role.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Owen T. T. Carmichael, Maninder Singh, Adil Bashir, Anne M. M. Russell, Mark Bolding, David T. T. Redden, Judd Storrs, William R. R. Willoughby, Candace Howard-Claudio, Daniel S. S. Hsia, Robert P. P. Kimberly, Meagan E. E. Gray, Eric Ravussin, Thomas S. S. Denney
Summary: The goal of this study was to harmonize 3T magnetic resonance imaging measurements in obese individuals across different academic sites and MRI vendors. The results showed high repeatability of the measurements of liver fat and stiffness in both humans and phantoms. This study demonstrates that multisite MRI harmonization could improve the assessment of interventions and therapy for NAFLD in multisite clinical trials.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Review
Virology
Ruediger E. Scharf, Juan-Manuel Anaya
Summary: This article provides an overview of various aspects related to post-COVID syndrome, including its prevalence, symptoms and sequelae, risk determinants, and psychosocial implications. It also discusses the pathogenesis of post-COVID condition, focusing on thrombo-inflammation, neutrophil extracellular traps, and venous thromboembolism. Additionally, it reviews COVID-19 and post-COVID syndrome in immunocompromising conditions, and the impact of vaccination on the prevention and treatment of post-COVID symptoms. The article highlights autoimmunity as a hallmark of post-COVID syndrome and the potential increase of autoimmune disorders globally.
Article
Multidisciplinary Sciences
Gianluca Ursini, Pasquale Di Carlo, Sreya Mukherjee, Qiang Chen, Shizhong Han, Jiyoung Kim, Maya Deyssenroth, Carmen J. Marsit, Jia Chen, Ke Hao, Giovanna Punzi, Daniel R. Weinberger
Summary: Our previous research indicates that genomic risk for schizophrenia is influenced by early life complications and sex-biased neurodevelopmental trajectories. In this study, we identify specific genes and potential mechanisms in the placenta that may mediate these outcomes. Through analysis of healthy term placentae and fetal brain, we highlight 139 placenta and schizophrenia-specific risk genes, many of which are sex-biased, and suggest a connection with nutrient-sensing capabilities of placenta and trophoblast invasiveness. These findings also implicate the Coronavirus-pathogenesis pathway and its association with SARS-CoV-2-positive pregnancies.
NATURE COMMUNICATIONS
(2023)
Editorial Material
Rheumatology
Elena Carnero-Montoro, Marta E. Alarcon-Riquelme
Summary: The rarity of vasculitis and other rheumatic diseases makes it challenging to study their genetics and evaluate treatments. New approaches like joint genetic analyses and drug repurposing may offer opportunities to understand these diseases better, identify new therapies, and conduct basket clinical trials.
NATURE REVIEWS RHEUMATOLOGY
(2023)
Article
Medicine, General & Internal
Paul A. Harris, Sarah E. Dunsmore, Jane C. Atkinson, Daniel Kelly Benjamin, Gordon R. Bernard, J. Michael Dean, Jamie P. Dwyer, Daniel F. Ford, Harry P. Selker, Salina P. Waddy, Kenneth L. Wiley, Consuelo H. Wilkins, Sarah K. Cook, Jeri S. Burr, Terri L. Edwards, Jacqueline Huvane, Nan Kennedy, Karen Lane, Ryan Majkowski, Sarah Nelson, Marisha E. Palm, Mary Stroud, Dixie D. Thompson, Linda Busacca, Mitchell S. V. Elkind, Robert P. Kimberly, Muredach P. Reilly, Daniel F. Hanley
Summary: Multicenter clinical trials are crucial for improving public health by enabling new treatments to reach a wider audience. However, conducting these trials can be challenging. The Trial Innovation Network (TIN), established in 2016, partners with academic medical institutions to overcome these challenges and accelerate the translation of novel interventions into clinical practice.
Article
Allergy
Lourdes Ortiz-Fernandez, Javier Martin, Marta E. Alarcon-Riquelme
Summary: Systemic lupus erythematosus, systemic sclerosis, rheumatoid arthritis, and Sjogren's syndrome are major autoimmune rheumatic diseases with complex etiologies influenced by environmental and genetic factors. The HLA region is the strongest susceptibility factor for these conditions, and non-HLA risk genetic variants have also been discovered.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2023)