Article
Genetics & Heredity
Rathika Chinniah, Vandit Sevak, Sasiharan Pandi, Padma Malini Ravi, Murali Vijayan, Arun Kannan, Balakrishnan Karuppiah
Summary: The study showed significant up-regulation of HLA-DRB1 genes in T2DM patients, particularly down-regulation in patients with DRB1*03 and DRB1*04 alleles, with regulatory effects observed in CIITA-P1 and RFX5. Immunophenotyping revealed increased numbers of specific cells and elevated levels of IFN-gamma in patients. Genetic variation analysis identified certain genotypes associated with disease risk.
Review
Biochemical Research Methods
Birga A. Mengesha, Lin Ning, Jian Huang
Summary: This review study investigated the association between Human Leukocyte Antigen (HLA) HLA-DRB1 alleles and the risk of Rheumatoid Arthritis (RA). The results demonstrated that certain HLA-DRB1 alleles were significantly associated with an increased risk of RA, while others were potentially protective against the disease. This study provides important insights into the relationship between HLA-DRB1 and the risk of RA in different ethnic groups.
CURRENT BIOINFORMATICS
(2022)
Article
Biochemical Research Methods
Greta Forlani, Justine Michaux, HuiSong Pak, Florian Huber, Elodie Lauret Marie Joseph, Elise Ramia, Brian J. Stevenson, Michael Linnebacher, Roberto S. Accolla, Michal Bassani-Sternberg
Summary: The study revealed the diversity of HLA ligandome in GBM cell lines and the significant impact of CIITA expression on HLA-II presentation machinery compared to IFN gamma treatment. It contributes to the identification of novel HLA-I and HLA-II ligands derived from known GBM-associated tumor antigens and suggests that CIITA-expressing GBM cells acquire an antigen presenting cell-like phenotype.
MOLECULAR & CELLULAR PROTEOMICS
(2021)
Article
Immunology
Adil Ahmed Ali, Khalid Eltahir Khalid, Somaya Elhaj Mohammed, Mohammed Salman Akhtar, Osman Khalafalla Saeed
Summary: The aim of this study was to determine the frequency of HLA class II alleles and haplotypes in Sudanese patients with Rheumatoid Arthritis (RA). The study found that HLA-DRB1*04 and *10 alleles were more common in RA patients, while HLA-DRB1*07 allele was significantly less common. HLA-DQB1*03 allele was strongly associated with RA risk, whereas HLA-DQB1*02 and *06 showed protective effects against RA. Several specific HLA haplotypes were also found to be significantly associated with RA risk or protection.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Genetics & Heredity
Kazuyoshi Ishigaki, Kaitlyn Lagattuta, Yang Luo, Eddie James, Jane Buckner, Soumya Raychaudhuri
Summary: Genetic analyses provide evidence supporting the central hypothesis that HLA alleles influence T cell receptor composition and increase the risk of autoimmune diseases.
Article
Neurosciences
Sasiharan Pandi, Rathika Chinniah, Vandit Sevak, Padma Malini Ravi, Muthuppandi Raju, Neethi Arasu Vellaiappan, Balakrishnan Karuppiah
Summary: The study identified specific HLA alleles that may be associated with susceptibility and protection against Parkinson's disease.
NEUROSCIENCE LETTERS
(2021)
Article
Medicine, General & Internal
Ivanka Marinovic, Esma Cecuk-Jelicic, Dijana Perkovic, Daniela Marasovic Krstulovic, Jure Aljinovic, Daniela Soso, Ela Skoric, Dusanka Martinovic Kaliterna
Summary: This study investigated the distribution of HLA-DRB1 alleles in patients with rheumatoid arthritis (RA) in different regions of Croatia and their relationship with disease severity. The results showed that the frequency of HLA-DRB1*04 allele was higher in RA patients from the Sinj Region (SR), while the frequency of HLA-DRB1*15 allele was higher in RA patients from the rest of the Split-Dalmatia County (SDC). Additionally, RA patients with shared epitope (SE) positivity from the SR had higher disease activity and worse functional status compared to SE-positive patients from the rest of the SDC.
WIENER KLINISCHE WOCHENSCHRIFT
(2022)
Article
Cell Biology
Maria Loginova, Svetlana Druzhinina, Igor Paramonov
Summary: Three novel HLA-DRB1 alleles, HLA-DRB1*07:150, HLA-DRB1*13:345 and HLA-DRB1*14:256, were identified.
Editorial Material
Cell Biology
Magali Devriese, Sephora Da Silva, Maryvonnick Carmagnat, Jean-Luc Taupin
Summary: HLA-DRB1*07:143N and HLA-DRB1*07:144 differ from DRB1*07:01:01:01 by single mismatches in exons 3 and 2 respectively.
Article
Rheumatology
Wataru Hirose, Masayoshi Harigai, Koichi Amano, Toshihiko Hidaka, Kenji Itoh, Kazutoshi Aoki, Masahiro Nakashima, Hayato Nagasawa, Yukiko Komano, Toshihiro Nanki
Summary: The study compares the clinical effectiveness of tofacitinib and abatacept in patients with RA, with tofacitinib showing superiority in changes from baseline in DAS28-ESR and remission achievement at week 4. SE positivity is associated with DAS28-ESR remission by week 24 in patients receiving abatacept, but not in those receiving tofacitinib.
ARTHRITIS RESEARCH & THERAPY
(2021)
Article
Cardiac & Cardiovascular Systems
Joanna Werner, Natalia Rivera, Johan Grunewald, Anders Eklund, Tomoko Iseda, Pernilla Darlington, Susanna Kullberg
Summary: This study found that HLA-DRBI *04 allele is more common in patients with sarcoidosis associated hypercalcemia (SAHC), and patients with SAHC exhibit a more severe disease phenotype with characteristics such as renal insufficiency, elevated ACE, and extrapulmonary manifestations. The average time between sarcoidosis diagnosis and detection of SAHC was 1.39 years. These results suggest that HLA-DRB1*04 could be a potential marker for identifying patients at higher risk for SAHC, and provide a basis for future studies on the mechanism of HLA-DRB1*04 in SAHC.
RESPIRATORY MEDICINE
(2021)
Editorial Material
Cell Biology
Maria Loginova, Kristina Repnicyna, Igor Paramonov
Summary: Two novel HLA-DRB1 alleles, HLA-DRB1*04:362 and HLA-DRB1*07:148, were identified using NGS.
Editorial Material
Cell Biology
Fang Wang, Wei Wang, Wei Zhang, Ji He, Faming Zhu
Summary: In comparison to HLA-DRB1*11:01:01:01, the alleles HLA-DRB1*11:262 and HLA-DRB1*11:268 each exhibit a single nucleotide substitution.
Article
Biochemistry & Molecular Biology
Kishore Nagasubramanian, Shanker Jha, Anuranjan Singh Rathore, Krishnakant Gupta
Summary: The study aimed to identify potential modulators for CIITA-I by predicting its structure, docking with small molecule databases, and conducting molecular simulations. Two potential modulators, ZINC5154833 and F5254-0161, were identified based on their interaction strength with CIITA-I.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Editorial Material
Cell Biology
Fang Wang, Ying Li, Nanying Chen, Wei Zhang, Faming Zhu
Summary: Compared to HLA-DRB1*09:01:02:01, HLA-DRB1*09:01:12 and HLA-DRB1*09:49 each have one nucleotide substitution, respectively.
Article
Clinical Neurology
Anna Karin Hedstrom, Nicole Brenner, Julia Butt, Jan Hillert, Tim Waterboer, Tomas Olsson, Lars Alfredsson
Summary: This study found that overweight/obesity in young adulthood interacts significantly with high EBNA-1 antibody levels, increasing the risk for multiple sclerosis. Furthermore, three-way interactions were present between HLA-DRB1*15:01, overweight/obesity at age 20 years, and each aspect of EBV infection.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2021)
Article
Biochemistry & Molecular Biology
Morten Mattingsdal, S. Sunna Ebenesersdottir, Kristjan H. S. Moore, Ole A. Andreassen, Thomas F. Hansen, Thomas Werge, Ingrid Kockum, Tomas Olsson, Lars Alfredsson, Agnar Helgason, Kari Stefansson, Eivind Hovig
Summary: This study describes the genetic structure of the Norwegian population, revealing distinctive patterns of genetic variation in the far northeast and south regions, with enriched Uralic Sami ancestry in the North. Migration rates are influenced by topography, and higher relatedness is found between the mid- and northern border areas towards Sweden. Despite Norway's maritime history, the region closest to mainland Europe seems to have been isolated, hindered by the open sea as a barrier to gene flow.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2021)
Review
Immunology
Leonid Padyukov
Summary: Rheumatoid arthritis is an inflammatory autoimmune disease with significant genetic associations and variations. Current research focuses on immune receptor binding, T cell activation, and cell signaling mechanisms. More than 150 candidate loci have been identified, with further discoveries expected in the future.
SEMINARS IN IMMUNOPATHOLOGY
(2022)
Letter
Rheumatology
Sanne Reijm, Astrid S. Brehler, Solbritt Rantapaa-Dahlqvist, Atsushi Kawakami, Takahiro Maeda, Shin-Ya Kawashiri, Mami Tamai, Diane van der Woude, Rene E. M. Toes
ANNALS OF THE RHEUMATIC DISEASES
(2022)
Review
Rheumatology
Hans Ulrich Scherer, Diane van der Woude, Rene E. M. Toes
Summary: Studies have shown that B cells play a pivotal role in the pathogenesis of rheumatoid arthritis (RA), and the presence of disease-specific autoantibody responses and the efficacy of B cell-targeting therapies further support this. Insights into the involvement of autoantibodies and autoreactive B cells in the disease process have enhanced our understanding of RA. This review discusses the latest insights into how autoantibodies and autoreactive B cells relate to the development and persistence of RA.
NATURE REVIEWS RHEUMATOLOGY
(2022)
Article
Endocrinology & Metabolism
Jessica Edstorp, Yuxia Wei, Emma Ahlqvist, Lars Alfredsson, Valdemar Grill, Leif Groop, Bahareh Rasouli, Elin P. Sorgjerd, Per M. Thorsby, Tiinamaija Tuomi, Bjorn O. Asvold, Sofia Carlsson
Summary: The study reveals that smoking and snus use are associated with a higher risk of LADA and type 2 diabetes, and smoking acts synergistically with HLA high-risk genotypes in the development of LADA.
Review
Rheumatology
Theresa Kissel, Rene E. M. Toes, Thomas W. J. Huizinga, Manfred Wuhrer
Summary: Glycosylation is a common modification that affects protein stability and interactions. It plays a significant role in rheumatic diseases, influencing inflammatory processes and disease progression. Understanding the impact of glycosylation on plasma proteins, cells, and tissues opens up potential interventions for the treatment of these diseases.
NATURE REVIEWS RHEUMATOLOGY
(2023)
Article
Rheumatology
Sophie I. E. Liem, Sam Neppelenbroek, Cynthia M. Fehres, Brigitte A. Wevers, Rene E. M. Toes, Cornelia F. Allaart, Tom W. J. Huizinga, Hans Ulrich Scherer, Jeska K. De Vries-Bouwstra
Summary: Early diagnosis of systemic sclerosis (SSc) is important. The most frequent SSc-specific autoantibodies are anti-centromere antibodies (ACA) and anti-topoisomerase I antibodies (ATA). ATA is associated with severe disease course. More detailed characterisation of the ATA-response in SSc might improve prognostication.
Article
Multidisciplinary Sciences
Olivia G. Thomas, Mattias Bronge, Katarina Tengvall, Birce Akpinar, Ola B. Nilsson, Erik Holmgren, Tara Hessa, Guro Gafvelin, Mohsen Khademi, Lars Alfredsson, Roland Martin, Andre Ortlieb Guerreiro-Cacais, Hans Groenlund, Tomas Olsson, Ingrid Kockum
Summary: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system, with Epstein-Barr virus (EBV) infection as a likely prerequisite. This study found that antibody reactivity to CRYAB amino acids 7 to 16 was associated with MS, and the combination of high EBNA1 responses with CRYAB positivity greatly increased disease risk. Additionally, evidence of antibody cross-reactivity between EBNA1 and CRYAB, as well as T cell cross-reactivity, was found, further demonstrating the role of EBV immune responses in MS development.
Letter
Rheumatology
Tineke J. van Wesemael, Sanne Reijm, Atsushi Kawakami, Annemarie L. Dorjee, Gerrie Stoeken, Takahiro Maeda, Shin-ya Kawashiri, Tom W. J. Huizinga, Mami Tamai, Rene E. M. Toes, Diane van der Woude
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Immunology
Miles D. Holborough-Kerkvliet, Sanne Kroos, Renee van de Wetering, Rene E. M. Toes
Summary: Autoimmune diseases are characterized by a breakdown of immunological tolerance to self, resulting in an abnormal immune response to self-antigens. The pathogenesis is driven by a complex interaction between autoreactive B and T cells. B cell targeting therapies, such as Rituximab, have shown efficacy in reducing symptoms of autoimmune diseases, but can also lead to infections. Therefore, antigen-specific approaches to target autoreactive cells are being investigated.
IMMUNOLOGY LETTERS
(2023)
Article
Biochemistry & Molecular Biology
Alexandre Xavier, Vicki E. Maltby, Ewoud Ewing, Maria Pia Campagna, Sean M. Burnard, Jesper N. Tegner, Mark Slee, Helmut Butzkueven, Ingrid Kockum, Lara Kular, Vilija G. Jokubaitis, Trevor Kilpatrick, Lars Alfredsson, Maja Jagodic, Anne-Louise Ponsonby, Bruce V. Taylor, Rodney J. Scott, Rodney A. Lea, Jeannette Lechner-Scott
Summary: This study reveals that DNA methylation differences in multiple sclerosis (MS) occur independently of known genetic risk loci. It shows that these differences more effectively differentiate the disease compared to known genetic risk loci. The study also indicates that the methylation differences in MS predominantly occur in B cells and monocytes, involving cell-specific biological pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, Research & Experimental
Sanne Reijm, Joanneke C. Kwekkeboom, Nienke J. Blomberg, Jolien Suurmond, Diane van der Woude, Rene E. M. Toes, Hans U. Scherer
Summary: This study visualizes the B cell response against posttranslational modification antigens in autoimmune diseases. The results demonstrate extensive cross-reactivity of B cells against different antigens and the presence of PTM-directed plasmablasts in patients. The expression of CXCR3 suggests the potential involvement of chemokines in this process.
Article
Rheumatology
Corrie M. Wortel, Sophie I. E. Liem, Nina M. van Leeuwen, Maaike Boonstra, Cynthia M. Fehres, Lauran Stoeger, Tom W. J. Huizinga, Rene E. M. Toes, Jeska De Vries-Bouwstra, Hans U. Scherer
Summary: This study investigates the autoreactive B cell responses in ATA-positive and ACA-positive SSc patients. The results show that ATA-positive patients exhibit a more active B cell response, which is associated with the presence and severity of ILD. This may explain the differential responsiveness to B cell depleting therapy.
Article
Immunology
Nienke Oskam, Pleuni Ooijevaar-de Heer, Ninotska I. L. Derksen, Simone Kruithof, Steven W. de Taeye, Gestur Vidarsson, Sanne Reijm, Theresa Kissel, Rene E. M. Toes, Theo Rispens
Summary: This study systematically investigated human IgM-mediated complement activation and found that hexameric IgM outperformed pentameric IgM and IgG1 in complement activation at low antigen densities, highlighting the importance of IgM in immunity.
JOURNAL OF IMMUNOLOGY
(2022)