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Panagiotis Antiochos, Pedro Marques-Vidal, Julien Virzi, Sabrina Pagano, Nathalie Satta, Oliver Hartley, Fabrizio Montecucco, François Mach, Zoltán Kutalik, Gerard Waeber, Peter Vollenweider, Nicolas Vuilleumier
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August 2017: Atherosclerosis
Nishanthi Thalayasingam, Nisha Nair, Andrew J Skelton, Jonathan Massey, Amy E Anderson, Alexander D Clark, Julie Diboll, Dennis W Lendrem, Louise N Reynard, Heather J Cordell, Stephen Eyre, John D Isaacs, Anne Barton, Arthur G Pratt
OBJECTIVE: Rheumatoid arthritis (RA) is a genetically complex disease of immune dysregulation. This study sought to gain further insight into the genetic risk mechanisms of RA by conducting an expression quantitative trait locus (eQTL) analysis of confirmed genetic risk loci in CD4+ T cells and B cells from carefully phenotyped patients with early arthritis who were naive to therapeutic immunomodulation. METHODS: RNA and DNA were isolated from purified B and/or CD4+ T cells obtained from the peripheral blood of 344 patients with early arthritis...
March 2018: Arthritis & Rheumatology
Jade England, Simon Drouin, Patrick Beaulieu, Pascal St-Onge, Maja Krajinovic, Caroline Laverdière, Emile Levy, Valérie Marcil, Daniel Sinnett
BACKGROUND: While cure rates for childhood acute lymphoblastic leukemia (cALL) now exceed 80%, over 60% of survivors will face treatment-related long-term sequelae, including cardiometabolic complications such as obesity, insulin resistance, dyslipidemia and hypertension. Although genetic susceptibility contributes to the development of these problems, there are very few studies that have so far addressed this issue in a cALL survivorship context. METHODS: In this study, we aimed at evaluating the associations between common and rare genetic variants and long-term cardiometabolic complications in survivors of cALL...
November 10, 2017: BMC Cancer
Lida Aslanian-Kalkhoran, Daniel Elieh-Ali-Komi, Mahnaz Sadeghi-Shabestari, Dariush Shanebandi, Zohreh Babaloo, Alireza Razavi, Saeed Sadigh-Eteghad, Tohid Kazemi
BACKGROUND: Asthma is a clinical setting in which multiple cellular and molecular mechanisms are involved. Additionally, increasing genetic studies have provided evidence that single nucleotide polymorphisms (SNPs) in asthma relevant genes confer susceptibility to the disease. Fc receptor-like (FCRL) 3, a transmembrane molecule basically involved in B-cell signaling, mediates immune-disorders including allergy. Aim of study was to investigate the possible association of rs7528684 SNP in FCRL3 gene with a predisposition to allergic asthma in Iranian North-western Azeri population...
July 1, 2017: Clinical Laboratory
Ju Li, Sai Ma, Linlin Shao, Chunhong Ma, Chengjiang Gao, Xiao-Hui Zhang, Ming Hou, Jun Peng
Primary immune thrombocytopenia (ITP) is an acquired autoimmune disease characterized by a reduced platelet count and an increased risk of bleeding. Although immense research has improved our understanding of ITP, the pathogenesis remains unclear. Here, we investigated the involvement of 25 single-nucleotide polymorphisms (SNPs) of the inflammation-related genes, including CD24, CD226, FCRL3, IL2, IRF5, ITGAM, NLRP3, CARD8, PTPN22, SH2B2, STAT4, TNFAIP3, and TRAF1, in the pathogenesis and treatment response of ITP...
2017: Frontiers in Immunology
Panagiotis Antiochos, Pedro Marques-Vidal, Julien Virzi, Sabrina Pagano, Nathalie Satta, Oliver Hartley, Fabrizio Montecucco, François Mach, Zoltán Kutalik, Gerard Waeber, Peter Vollenweider, Nicolas Vuilleumier
BACKGROUND: Autoantibodies against apolipoprotein A-1 (anti-apoA-1 IgG) have emerged as an independent biomarker for cardiovascular disease and mortality. However, their association with all-cause mortality in the community, as well as their genetic determinants, have not been studied. OBJECTIVE: To determine whether anti-apoA-1 IgG: (a) predict all-cause mortality in the general population and (b) are associated with single-nucleotide polymorphisms (SNPs) in a genome-wide association study (GWAS)...
2017: Frontiers in Immunology
Filipe Gracio, Brian Burford, Patrycja Gazinska, Anca Mera, Aisyah Mohd Noor, Pierfrancesco Marra, Cheryl Gillett, Anita Grigoriadis, Sarah Pinder, Andrew Tutt, Emanuele de Rinaldis
Despite advancements in the use of transcriptional information to understand and classify breast cancers, the contribution of splicing to the establishment and progression of these tumours has only recently starting to emerge. Our work explores this lesser known landscape, with special focus on the basal-like breast cancer subtype where limited therapeutic opportunities and no prognostic biomarkers are currently available. Using ExonArray analysis of 176 breast cancers and 9 normal breast tissues we demonstrate that splicing levels significantly contribute to the diversity of breast cancer molecular subtypes and explain much of the differences compared with normal tissues...
January 6, 2017: Scientific Reports
Michael D Parkes, Philip F Halloran, Luis G Hidalgo
BACKGROUND: Natural killer (NK) cells localize in the microcirculation in antibody-mediated rejection (AMR) and have been postulated to be activated by donor-specific anti-HLA antibodies triggering their CD16a Fc receptors. However, direct evidence for NK cell CD16a triggering in AMR is lacking. We hypothesized that CD16a-inducible NK cell-selective transcripts would be expressed in human AMR biopsies and would offer evidence for CD16a triggering. METHODS: We stimulated human NK cells through CD16a in vitro, characterized CD16a-inducible transcripts, and studied their expression in human kidney transplant biopsies with AMR and in an extended human cell panel to determine their selectivity...
April 2017: Transplantation
Jwu Jin Khong, Kathryn P Burdon, Yi Lu, Kate Laurie, Lefta Leonardos, Paul N Baird, Srujana Sahebjada, John P Walsh, Adam Gajdatsy, Peter R Ebeling, Peter Shane Hamblin, Rosemary Wong, Simon P Forehan, Spiros Fourlanos, Anthony P Roberts, Matthew Doogue, Dinesh Selva, Grant W Montgomery, Stuart Macgregor, Jamie E Craig
BACKGROUND: Graves' disease is an autoimmune thyroid disease of complex inheritance. Multiple genetic susceptibility loci are thought to be involved in Graves' disease and it is therefore likely that these can be identified by genome wide association studies. This study aimed to determine if a genome wide association study, using a pooling methodology, could detect genomic loci associated with Graves' disease. RESULTS: Nineteen of the top ranking single nucleotide polymorphisms including HLA-DQA1 and C6orf10, were clustered within the Major Histo-compatibility Complex region on chromosome 6p21, with rs1613056 reaching genome wide significance (p = 5 × 10(-8))...
November 18, 2016: BMC Genomics
Masao Ota, Takeji Umemura, Shigeyuki Kawa
Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. AIP has the features of a complex disease that is caused by multifactorial genes. However, the genetic factors underlying AIP have not been elucidated conclusively. Association studies by the candidate-gene approach and genome-wide association studies (GWAS) have revealed several susceptibility genes for AIP, including HLA DRB1*04:05-DQB1*04:01, FCRL3, CTLA4, and KCNA3, albeit in small-scale analyses...
2017: Current Topics in Microbiology and Immunology
Bernice M Benoit, Neha Jariwala, Geraldine O'Connor, Landon K Oetjen, Timothy M Whelan, Adrienne Werth, Andrea B Troxel, Hélène Sicard, Lisa Zhu, Christopher Miller, Junko Takeshita, Daniel W McVicar, Brian S Kim, Alain H Rook, Maria Wysocka
Sézary syndrome (SS), a leukemic variant of cutaneous T-cell lymphoma (CTCL), is associated with a significantly shorter life expectancy compared to skin-restricted mycosis fungoides. Early diagnosis of SS is, therefore, key to achieving enhanced therapeutic responses. However, the lack of a biomarker(s) highly specific for malignant CD4+ T cells in SS patients has been a serious obstacle in making an early diagnosis. We recently demonstrated the high expression of CD164 on CD4+ T cells from Sézary syndrome patients with a wide range of circulating tumor burdens...
January 2017: Archives of Dermatological Research
Małgorzata Pawłowicz, Rafał Filipów, Grzegorz Krzykowski, Anna Stanisławska-Sachadyn, Lucyna Morzuch, Julia Kulczycka, Anna Balcerska, Janusz Limon
BACKGROUND: Genotype-phenotype studies in type 1 diabetes (T1DM) patients are needed for further development of therapy strategies. OBJECTIVE: Our aims were to investigate the distribution of selected PTPN22 and FCRL3 gene polymorphisms and their associations with clinical course of disease in children with newly diagnosed T1DM from the Pomeranian region of Poland. SUBJECTS/METHODS: The prospective, longitudinal study of 147 children with newly diagnosed T1DM-autoimmune subtype was conducted...
September 12, 2016: Pediatric Diabetes
Alberto Falorni, Annalisa Brozzetti, Roberto Perniola
Autoimmune Addison's disease (AAD) is a complex disease that results from the interaction of a predisposing genetic background with still unknown environmental factors. Pathogenic variants in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrine syndrome type 1, of which AAD is a major disease component. Among the genetic factors for isolated AAD and autoimmune polyendocrine syndrome type 2, a key role is played by HLA class II genes: HLA-DRB1*0301-DQA1*0501-DQB1*0201 and DRB1*04-DQA1*0301-DQB1*0302 are positively, and DRB1*0403 is negatively, associated with genetic risk for AAD...
2016: Frontiers of Hormone Research
Ingvild S M Gabrielsen, Silja Svanstrøm Amundsen, Hanna Helgeland, Siri Tennebø Flåm, Nimo Hatinoor, Kristian Holm, Marte K Viken, Benedicte A Lie
Genome-wide association studies (GWAS) have boosted our knowledge of genetic risk variants in autoimmune diseases (AIDs). Most risk variants are located within or near genes with immunological functions, and the majority is found to be non-coding, pointing towards a regulatory role. In this study, we performed a cis expression quantitative trait locus (eQTL) screen restricted to 353 AID associated risk variants selected from the GWAS catalog to investigate whether these single nucleotide polymorphisms (SNPs) influence gene expression in thymus...
July 15, 2016: Human Molecular Genetics
Ana Karen Rodríguez-Elías, Karina Maldonado-Murillo, Luis Fernando López-Mendoza, Julián Ramírez-Bello
Rheumatoid arthritis is a chronic inflammatory autoimmune disease that affects approximately 0.5-1% of the general population and leads to chronic synovial inflammation, destruction of cartilage and bone, and disability. The heritability of rheumatoid arthritis has been estimated to be about 60%, while the contribution of HLA to heritability has been estimated to be 11-37%. Other genes, such as PTPN22, STAT4, CTLA4, TRAF1, PADI4, IRF5, FCRL3, TNFIP3, TNF-α, miRNAs, CD28, CD40, TYK2, etc., have been associated with susceptibility, severity, activity, and treatment response of rheumatoid arthritis...
March 2016: Gaceta Médica de México
Wenwen Yan, Haoming Song, Jinfa Jiang, Wenjun Xu, Zhu Gong, Qianglin Duan, Chuangrong Li, Yuan Xie, Lemin Wang
The current study aimed to identify differentially expressed B cell‑associated genes in peripheral blood mononuclear cells and observe the changes in B cell activation at different stages of coronary artery disease. Groups of patients with acute myocardial infarction (AMI) and stable angina (SA), as well as healthy volunteers, were recruited into the study (n=20 per group). Whole human genome microarray analysis was performed to examine the expression of B cell‑associated genes among these three groups...
May 2016: Molecular Medicine Reports
Katarzyna Wojciechowska-Durczynska, Kinga Krawczyk-Rusiecka, Arkadiusz Zygmunt, Renata Stawerska, Andrzej Lewinski
BACKGROUND: Numerous genetic studies revealed several susceptibility genes of autoimmune thyroid diseases (AITD), including CTLA4, PTPN22 and FCRL3. These immune-modulating genes are involved in genetic background of AITD among children and adult patients. However, possible age-related differences in overexpression of these genes remain unclear. PURPOSE: The goal of this single centre cohort study was evaluation of expression levels of three (3) genes CTLA4, PTPN22 and FCRL3 in adult patients and children with autoimmune thyroiditis...
2016: Neuro Endocrinology Letters
Daniel J Hodson, Arthur L Shaffer, Wenming Xiao, George W Wright, Roland Schmitz, James D Phelan, Yandan Yang, Daniel E Webster, Lixin Rui, Holger Kohlhammer, Masao Nakagawa, Thomas A Waldmann, Louis M Staudt
The requirement for the B-cell transcription factor OCT2 (octamer-binding protein 2, encoded by Pou2f2) in germinal center B cells has proved controversial. Here, we report that germinal center B cells are formed normally after depletion of OCT2 in a conditional knockout mouse, but their proliferation is reduced and in vivo differentiation to antibody-secreting plasma cells is blocked. This finding led us to examine the role of OCT2 in germinal center-derived lymphomas. shRNA knockdown showed that almost all diffuse large B-cell lymphoma (DLBCL) cell lines are addicted to the expression of OCT2 and its coactivator OCA-B...
April 5, 2016: Proceedings of the National Academy of Sciences of the United States of America
Jan P Nicolay, Moritz Felcht, Kai Schledzewski, Sergij Goerdt, Cyrill Géraud
Das Sézary-Syndrom, die leukämische Variante des kutanen T-Zell-Lymphoms, stellt immer noch eine Erkrankung mit vielen ungelösten Fragen sowie einer sehr ungünstigen Prognose dar. In jüngeren Forschungsarbeiten wurde jedoch eine Vielzahl an fehlregulierten molekularen Signalwegen identifiziert, die zur malignen Transformation und Therapieresistenz von Sézary-Zellen (SC) beitragen. Im Hinblick auf die T-Zell-Entwicklung repräsentieren SC entweder naive T-Zellen, T-Effektor-Gedächtniszellen oder zentrale T-Gedächtniszellen...
March 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Jan P Nicolay, Moritz Felcht, Kai Schledzewski, Sergij Goerdt, Cyrill Géraud
Sézary syndrome, the leukemic variant of cutaneous T-cell lymphoma, is still an enigmatic disease with a fatal prognosis. Recent research, however, has identified a multitude of dysregulated molecular pathways that contribute to malignant transformation and therapy resistance of Sézary cells (SC). With respect to T-cell development, SC either represent naive T cells, T effector memory or T central memory cells. Functionally, SC may differentiate into Th2, Treg, or even Th17 cells. Despite their plasticity, SC express characteristic diagnostic marker proteins including CD158k, CD164, FcRL3, and PD-1 as well as skin-homing receptors such as CLA and CCR4...
March 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
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