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SLE genetics

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https://www.readbyqxmd.com/read/29663334/the-rheumatic-disease-associated-fam167a-blk-locus-encodes-diora-1-a-novel-disordered-protein-highly-expressed-in-bronchial-epithelium-and-alveolar-macrophages
#1
Lara Mentlein, Gudny Ella Thorlacius, Lauro Meneghel, Lara A Aqrawi, Jorge I Ramírez Sepúlveda, Johan Grunewald, Alexander Espinosa, Marie Wahren-Herlenius
OBJECTIVES: Triggering of autoimmunity that leads to rheumatic disease has been suggested to depend on gene-environment interactions occurring in epithelial barriers and associated immune cells. Genetic studies have identified associations of the FAM167A-BLK locus with rheumatoid arthritis, SLE, and Sjögren's syndrome. While BLK (B lymphocyte kinase) has a well-established role in B cells, family with sequence similarity 167 member A (FAM167A) and its gene family remain uncharacterized...
April 17, 2018: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29643853/gender-bias-in-human-systemic-lupus-erythematosus-a-problem-of-steroid-receptor-action
#2
Virginia Rider, Nabih I Abdou, Bruce F Kimler, Nanyan Lu, Susan Brown, Brooke L Fridley
Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease resulting from abnormal interactions between T and B cells. The acquisition of SLE is linked to genetic susceptibility, and diverse environmental agents can trigger disease onset in genetically susceptible individuals. However, the strongest risk factor for developing SLE is being female (9:1 female to male ratio). The female sex steroid, estradiol, working through its receptors, contributes to the gender bias in SLE although the mechanisms remain enigmatic...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29625966/identification-of-st3agl4-mfhas1-csnk2a2-and-cd226-as-loci-associated-with-systemic-lupus-erythematosus-sle-and-evaluation-of-sle-genetics-in-drug-repositioning
#3
Yong-Fei Wang, Yan Zhang, Zhengwei Zhu, Ting-You Wang, David L Morris, Jiangshan Jane Shen, Huoru Zhang, Hai-Feng Pan, Jing Yang, Sen Yang, Dong-Qing Ye, Timothy J Vyse, Yong Cui, Xuejun Zhang, Yujun Sheng, Yu Lung Lau, Wanling Yang
OBJECTIVES: Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with a strong genetic component in its pathogenesis. Through genome-wide association studies (GWAS), we recently identified 10 novel loci associated with SLE and uncovered a number of suggestive loci requiring further validation. This study aimed to validate those loci in independent cohorts and evaluate the role of SLE genetics in drug repositioning. METHODS: We conducted GWAS and replication studies involving 12 280 SLE cases and 18 828 controls, and performed fine-mapping analyses to identify likely causal variants within the newly identified loci...
April 6, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29623390/the-role-of-genetics-and-epigenetics-in-rheumatic-diseases-are-they-really-a-target-to-be-aimed-at
#4
REVIEW
Masaru Kato, Shinsuke Yasuda, Tatsuya Atsumi
To date, numerous genetic and epigenetic studies have been performed and provided a crucial step forward in our understanding of the pathogenesis of rheumatic diseases. However, most of the recent advances in the treatment of rheumatic diseases including biological therapies are not based on or even discrepant from these genetic and epigenetic findings. For example, tumor necrosis factor inhibitors are quite successful in the treatment of rheumatoid arthritis (RA), Behçet's disease (BD), ankylosing spondylitis (AS) and psoriatic arthritis (PsA) but not in that of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), Sjögren's syndrome (SS) and antineutrophil cytoplasmic antibody-associated vasculitis (AAV), conversely, RA shares genetic backgrounds more with SLE, SSc, SS and AAV than BD, AS and PsA...
April 5, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29623013/human-leukocyte-antigens-drb1-03-is-associated-with-systemic-lupus-erythematosus-and-anti-ssb-production-in-south-tunisia
#5
Hend Hachicha, Arwa Kammoun, Nadia Mahfoudh, Sameh Marzouk, Sawsan Feki, Raouia Fakhfakh, Hajer Fourati, Samy Haddouk, Faten Frikha, Lilia Gaddour, Feiza Hakim, Zouheir Bahloul, Hafedh Makni, Hatem Masmoudi
Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease with various presentations. This variation is due to the interaction of hormonal, environmental, and genetic factors. Associations between human leukocyte antigens and SLE have long been recognized in different ethnic populations and have been suggested to represent the most important association. Objectives: The objectives of this paper were to determine susceptibility and protection human leukocyte antigens (HLA) Class II markers for SLE and to highlight, for the first time, associations between HLA alleles and clinical and serological features in South Tunisia...
January 2018: International Journal of Health Sciences
https://www.readbyqxmd.com/read/29619588/autoimmune-inflammatory-syndrome-induced-by-mineral-oil-a-health-problem
#6
Olga Vera-Lastra, Gabriela Medina, María Pilar Cruz-Domínguez, Gabriel Medrano Ramírez, Raymundo Benjamin Priego Blancas, Ana Lilia Peralta Amaro, Anabel Villanueva Martínez, Jesús Sepúlveda Delgado, Luis J Jara
Autoimmune/inflammatory syndrome induced by adjuvant (ASIA) includes the following conditions: siliconosis, Gulf War syndrome, macrophagic myofasciitis syndrome, and post-vaccination phenomena. Afterward, other syndromes have been recognized, such as in ASIA by mineral oil (ASIA-MO). These conditions are triggered by adjuvants and they are the result of the interplay of genetic and environmental factors. ASIA-MO is defined as the infiltration of oily type modeling substances for cosmetic purposes. It has been reported in many countries and used surreptitiously...
April 4, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29600248/cd11b-activity-modulates-pathogenesis-of-lupus-nephritis
#7
REVIEW
Samia Q Khan, Imran Khan, Vineet Gupta
Lupus nephritis (LN) is a common complication of systemic lupus erythematosus (SLE) with unclear etiology and limited treatment options. Immune cell infiltration into the kidneys, a hallmark of LN, triggers tissue damage and proteinuria. CD11b, the α-chain of integrin receptor CD11b/CD18 (also known as αMβ2 , Mac-1, and CR3), is highly expressed on the surface of innate immune cells, including macrophages and neutrophils. Genetic variants in the human ITGAM gene, which encodes for CD11b, are strongly associated with susceptibility to SLE, LN, and other complications of SLE...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29600108/hydroxychloroquine-induced-cardiomyopathy-and-heart-failure-in-twins
#8
Hang Zhao, Joyce Wald, Michael Palmer, Yuchi Han
Hydroxychloroquine (HCQ)-induced cardiomyopathy is one of the rare but severe complications following prolonged HCQ use. However, the exact mechanism of HCQ cardiotoxicity remains unclear and it is difficult to identify risk factors. We present a case of twin sisters who both suffered from systemic lupus erythematosus (SLE) and HCQ-induced cardiomyopathy presenting with decompensated heart failure (HF), suggesting that genetic predisposition might be a factor in HCQ-induced cardiomyopathy.
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29599769/trib1-is-overexpressed-in-systemic-lupus-erythematosus-while-it-regulates-immunoglobulin-production-in-murine-b-cells
#9
Léa Simoni, Virginia Delgado, Julie Ruer-Laventie, Delphine Bouis, Anne Soley, Vincent Heyer, Isabelle Robert, Vincent Gies, Thierry Martin, Anne-Sophie Korganow, Bernardo Reina San Martin, Pauline Soulas-Sprauel
Systemic lupus erythematosus (SLE) is a severe and heterogeneous autoimmune disease with a complex genetic etiology, characterized by the production of various pathogenic autoantibodies, which participate in end-organ damages. The majority of human SLE occurs in adults as a polygenic disease, and clinical flares interspersed with silent phases of various lengths characterize the usual evolution of the disease in time. Trying to understand the mechanism of the different phenotypic traits of the disease, and considering the central role of B cells in SLE, we previously performed a detailed wide analysis of gene expression variation in B cells from quiescent SLE patients...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29559975/tank-binding-kinase-1-dependent-responses-in-health-and-autoimmunity
#10
REVIEW
Cynthia Louis, Chris Burns, Ian Wicks
The pathogenesis of autoimmune diseases, such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) is driven by genetic predisposition and environmental triggers that lead to dysregulated immune responses. These include the generation of pathogenic autoantibodies and aberrant production of inflammatory cytokines. Current therapies for RA and other autoimmune diseases reduce inflammation by targeting inflammatory mediators, most of which are innate response cytokines, resulting in generalized immunosuppression...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29558349/-epigenetic-disturbances-in-systemic-lupus-erythematosus
#11
Magdalena Dryglewska, Bogdan Kolarz, Maria Majdan
Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease that results in uncontrolled immune system activation and overproduction of autoantibodies. The pathogenesis of the disease is complex and not fully understood, nevertheless, genetic and environmental factors play an important role. So far, about 30 genes have been identified to be involved in the SLE pathomechanism. However, not all genetically predisposed individuals develop the disease. This phenomenon can be associated with epigenetic changes that occur under the influence of environmental factors...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29556239/plasma-cell-differentiation-pathways-in-systemic-lupus-erythematosus
#12
REVIEW
Susan Malkiel, Ashley N Barlev, Yemil Atisha-Fregoso, Jolien Suurmond, Betty Diamond
Plasma cells (PCs) are responsible for the production of protective antibodies against infectious agents but they also produce pathogenic antibodies in autoimmune diseases, such as systemic lupus erythematosus (SLE). Traditionally, high affinity IgG autoantibodies are thought to arise through germinal center (GC) responses. However, class switching and somatic hypermutation can occur in extrafollicular (EF) locations, and this pathway has also been implicated in SLE. The pathway from which PCs originate may determine several characteristics, such as PC lifespan and sensitivity to therapeutics...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29550838/c1r-c1s-deficiency-is-insufficient-to-induce-murine-systemic-lupus-erythematosus
#13
Kozue Uchio-Yamada, Mayuri Tanaka, Noboru Manabe
C1s deficiency is strongly associated with the development of human systemic lupus erythematosus (SLE); however, the mechanisms by which C1s deficiency contributes to the development of SLE have not yet been elucidated in detail. Using ICR-derived-glomerulonephritis (ICGN) mouse strain that develops SLE and very weakly expresses C1s in the liver, we investigated the protective roles of C1s against SLE. A genetic sequence analysis revealed complete deletion of the C1s1 gene, a mouse homolog of the human C1s gene, with partial deletion of the C1ra and C1rb genes in the ICGN strain...
March 18, 2018: Genes and Immunity
https://www.readbyqxmd.com/read/29548017/coping-strategies-mediate-the-effect-of-stressful-life-events-on-schizotypal-traits-and-psychotic-symptoms-in-22q11-2-deletion-syndrome
#14
Marco Armando, Corrado Sandini, Maelle Chambaz, Marie Schaer, Maude Schneider, Stephan Eliez
Converging evidence suggests that psychosis emerges from the complex interaction of genetic and environmental factors. Stressful life events (SLEs) play a prominent role in combination with coping strategies and with a dysfunctional hypothalamus-pituitary-adrenal axis (HPAA). It has been proposed that the framework of schizotypy might help disentangle the interaction between genetic and environmental factors in the pathogenesis of psychosis. Similarly, 22q11.2 deletion syndrome (22q11DS) is considered as a genetic model of psychosis vulnerability...
March 14, 2018: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29545801/systemic-lupus-erythematosus-definitions-contexts-conflicts-enigmas
#15
Ole Petter Rekvig
Systemic lupus erythematosus (SLE) is an inadequately defined syndrome. Etiology and pathogenesis remain largely unknown. SLE is on the other hand a seminal syndrome that has challenged immunologists, biologists, genetics, and clinicians to solve its nature. The syndrome is characterized by multiple, etiologically unlinked manifestations. Unexpectedly, they seem to occur in different stochastically linked clusters, although single gene defects may promote a smaller spectrum of symptoms/criteria typical for SLE...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29528588/vitamin-d-receptor-fok1-bsm-1-gene-polymorphisms-in-systemic-lupus-erythematosus-and-osteoarthritis-autoimmune-inflammatory-versus-degenerative-model
#16
Mona S Ghaly, Dahlia I Badra, Omar Dessouki, Nermine N Elmaraghy, Ranya Hassan
Vitamin D deficiency has been described in SLE and OA. Low vitamin D level is prevalent in Egyptian SLE patients while controversial studies are present regarding its level in OA patients in Egypt. We investigated whether vitamin D receptor (VDR) genes Bsm1 and Fok1 polymorphisms could be used as genetic markers for the susceptibility to SLE and /or OA in a sample of Egyptian population. The study was carried out on 100 SLE patients, 100 osteoarthritic patients and 100 normal controls using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP)...
June 2017: Egyptian Journal of Immunology
https://www.readbyqxmd.com/read/29526595/mechanisms-of-tissue-injury-in-lupus-nephritis
#17
REVIEW
Giovanna Flores-Mendoza, Stephanie P Sansón, Santiago Rodríguez-Castro, José C Crispín, Florencia Rosetti
Disease heterogeneity remains a major challenge for the understanding of systemic lupus erythematosus (SLE). Recent work has revealed the important role of nonimmune factors in the development of end-organ damage involvement, shifting the current paradigm that views SLE as a disease inflicted by a disturbed immune system on passive target organs. Here, we discuss the pathogenesis of lupus nephritis in a comprehensive manner, by incorporating the role that target organs play by withstanding and modulating the local inflammatory response...
March 8, 2018: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/29526310/pulmonary-arterial-hypertension-associated-to-systemic-erythematous-lupus-molecular-characterization-of-3-cases
#18
Guillermo Pousada, Mauro Lago-Docampo, Adolfo Baloira, Diana Valverde
BACKGROUND AND OBJECTIVE: Pulmonary arterial hypertension associated with systemic lupus erythematosus (PAH-SLE) is a rare disease with a low incidence rate. In this study, PAH related genes and genetic modifiers were characterised molecularly in patients with PAH-SLE. PATIENTS AND METHODS: Three patients diagnosed with PAH-SLE and 100 control individuals were analysed after signing an informed consent. RESULTS: Two out of the three analysed patients with PAH-SLE were carriers of pathogenic mutations in the genes BMPR2 and ENG...
March 8, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29514802/novel-gene-variants-associated-with-cardiovascular-disease-in-systemic-lupus-erythematosus-and-rheumatoid-arthritis
#19
Dag Leonard, Elisabet Svenungsson, Johanna Dahlqvist, Andrei Alexsson, Lisbeth Ärlestig, Kimberly E Taylor, Johanna K Sandling, Christine Bengtsson, Martina Frodlund, Andreas Jönsen, Susanna Eketjäll, Kerstin Jensen-Urstad, Iva Gunnarsson, Christopher Sjöwall, Anders A Bengtsson, Maija-Leena Eloranta, Ann-Christine Syvänen, Solbritt Rantapää-Dahlqvist, Lindsey A Criswell, Lars Rönnblom
OBJECTIVES: Patients with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) have increased risk of cardiovascular disease (CVD). We investigated whether single nucleotide polymorphisms (SNPs) at autoimmunity risk loci were associated with CVD in SLE and RA. METHODS: Patients with SLE (n=1045) were genotyped using the 200K Immunochip SNP array (Illumina). The allele frequency was compared between patients with and without different manifestations of CVD...
March 7, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29503444/genetic-and-epigenetic-influences-on-the-loss-of-tolerance-in-autoimmunity
#20
REVIEW
Peng Zhang, Qianjin Lu
Immunological tolerance loss is fundamental to the development of autoimmunity; however, the underlying mechanisms remain elusive. Immune tolerance consists of central and peripheral tolerance. Central tolerance, which occurs in the thymus for T cells and bone marrow for B cells, is the primary way that the immune system discriminates self from non-self. Peripheral tolerance, which occurs in tissues and lymph nodes after lymphocyte maturation, controls self-reactive immune cells and prevents over-reactive immune responses to various environment factors...
March 5, 2018: Cellular & Molecular Immunology
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