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SLE genetics

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https://www.readbyqxmd.com/read/29230954/association-between-vitamin-d-receptor-polymorphisms-and-systemic-lupus-erythematosus-in-an-indian-cohort
#1
Harishankar Mahto, Rina Tripathy, Bidyut K Das, Aditya K Panda
AIM: Systemic lupus erythematosus (SLE) is an autoimmune disorder with various clinical manifestations. Susceptibility to development of SLE has been linked to several factors, such as genetic, environmental and hormonal. Vitamin D appears to have a regulatory role on disease manifestation and activity. Vitamin D exerts its effect through vitamin D receptors (VDR). Several studies have demonstrated an association between VDR polymorphisms and susceptibility to SLE in different populations, although the results are still inconclusive...
December 12, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29224681/role-of-interferons-in-sle
#2
REVIEW
Anders A Bengtsson, Lars Rönnblom
Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease that affects many different organ systems, with excessive production of type I interferons (IFNs) and autoantibodies against nucleic acids as hallmarks. Activation of the type I IFN system in SLE is due to continuous stimulation of plasmacytoid dendritic cells by endogenous nucleic acids, leading to sustained type I IFN production. This is reflected by an overexpression of type I IFN-regulated genes or an IFN signature. Type I IFNs have effects on both the innate and adaptive immune systems, which contribute to both loss of tolerance and the autoimmune disease process...
June 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29224679/a-review-on-sle-and-malignancy
#3
REVIEW
May Y Choi, Kelsey Flood, Sasha Bernatsky, Rosalind Ramsey-Goldman, Ann E Clarke
Systemic lupus erythematosus (SLE) is a chronic, systemic autoimmune disease characterized by autoantibody production, complement activation, and immune complex deposition. It predominantly affects young and middle-aged women. While improvements in the diagnosis and treatment of SLE have altered prognosis, morbidity and mortality rates remain higher than the general population. In addition to renal injury, cardiovascular disease, and infection, malignancy is known to be a significant cause of death in this population...
June 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29224673/understanding-the-role-of-environmental-factors-in-the-development-of-systemic-lupus-erythematosus
#4
REVIEW
Christine G Parks, Aline de Souza Espindola Santos, Medha Barbhaiya, Karen H Costenbader
Systemic lupus erythematosus (SLE) is a multisystem disease with a complex etiology. Its risk is higher among women, racial and ethnic minorities, and individuals with a family history of SLE or related autoimmune diseases. It is believed that genetic factors interact with environmental exposures throughout the lifespan to influence susceptibility to developing SLE. The strongest epidemiologic evidence exists for increased risk of SLE associated with exposure to crystalline silica, current cigarette smoking, use of oral contraceptives, and postmenopausal hormone replacement therapy, while there is an inverse association with alcohol use...
June 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29219063/an-insight-on-the-pathogenesis-and-treatment-of-systemic-lupus-erythematosus
#5
Murtaza Ali, Chelapram K Firoz, Nasimudeen R Jabir, Mohd Rehan, Mohd Shahnawaz Khan, Shams Tabrez
BACKGROUND AND OBJECTIVE: Systemic lupus erythematosus (SLE) is a diverse autoimmune disorder, evoked in response to self-immune system that leads to immune complex depositions and organ damage. The exact mechanism of SLE pathogenesis is still unclear but certain genetic and environmental factors have been suggested in the literature that could influence its pathogenesis. The modulation in B- and T- cell responses and genetic variations could lead to abnormal lymphocyte functions and the production of antibodies against the indigenous proteins and the immune complex depositions...
December 7, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29214033/lupus-related-single-nucleotide-polymorphisms-and-risk-of-diffuse-large-b-cell-lymphoma
#6
Sasha Bernatsky, Héctor A Velásquez García, John J Spinelli, Patrick Gaffney, Karin E Smedby, Rosalind Ramsey-Goldman, Sophia S Wang, Hans-Olov Adami, Demetrius Albanes, Emanuele Angelucci, Stephen M Ansell, Yan W Asmann, Nikolaus Becker, Yolanda Benavente, Sonja I Berndt, Kimberly A Bertrand, Brenda M Birmann, Heiner Boeing, Paolo Boffetta, Paige M Bracci, Paul Brennan, Angela R Brooks-Wilson, James R Cerhan, Stephen J Chanock, Jacqueline Clavel, Lucia Conde, Karen H Cotenbader, David G Cox, Wendy Cozen, Simon Crouch, Anneclaire J De Roos, Silvia de Sanjose, Simonetta Di Lollo, W Ryan Diver, Ahmet Dogan, Lenka Foretova, Hervé Ghesquières, Graham G Giles, Bengt Glimelius, Thomas M Habermann, Corinne Haioun, Patricia Hartge, Henrik Hjalgrim, Theodore R Holford, Elizabeth A Holly, Rebecca D Jackson, Rudolph Kaaks, Eleanor Kane, Rachel S Kelly, Robert J Klein, Peter Kraft, Anne Kricker, Qing Lan, Charles Lawrence, Mark Liebow, Tracy Lightfoot, Brian K Link, Marc Maynadie, James McKay, Mads Melbye, Thierry J Molina, Alain Monnereau, Lindsay M Morton, Alexandra Nieters, Kari E North, Anne J Novak, Kenneth Offit, Mark P Purdue, Marco Rais, Jacques Riby, Eve Roman, Nathaniel Rothman, Gilles Salles, Gianluca Severi, Richard K Severson, Christine F Skibola, Susan L Slager, Alex Smith, Martyn T Smith, Melissa C Southey, Anthony Staines, Lauren R Teras, Carrie A Thompson, Hervé Tilly, Lesley F Tinker, Anne Tjonneland, Jenny Turner, Claire M Vajdic, Roel C H Vermeulen, Joseph Vijai, Paolo Vineis, Jarmo Virtamo, Zhaoming Wang, Stephanie Weinstein, Thomas E Witzig, Andrew Zelenetz, Anne Zeleniuch-Jacquotte, Yawei Zhang, Tongzhang Zheng, Mariagrazia Zucca, Ann E Clarke
Objective: Determinants of the increased risk of diffuse large B-cell lymphoma (DLBCL) in SLE are unclear. Using data from a recent lymphoma genome-wide association study (GWAS), we assessed whether certain lupus-related single nucleotide polymorphisms (SNPs) were also associated with DLBCL. Methods: GWAS data on European Caucasians from the International Lymphoma Epidemiology Consortium (InterLymph) provided a total of 3857 DLBCL cases and 7666 general-population controls...
2017: Lupus Science & Medicine
https://www.readbyqxmd.com/read/29213152/serological-and-molecular-analysis-of-parvovirus-b19-infection-in-mayan-women-with-systemic-lupus-erythematosus-in-mexico
#7
Guillermo Valencia Pacheco, Yumi E Nakazawa Ueji, Edwin A Rodríguez Dzul, Angélica V Angulo Ramírez, Ricardo F López Villanueva, Irma G Quintal Ortiz, Elsy P Rosado Paredes
Background: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease that mainly affects women, characterized by the production of autoantibodies. Its causal agent is unknown, but the combination of environmental, hormonal and genetic factors may favor the development of the disease. Parvovirus B19 has been associated with the development of SLE, since it induces the production of anti-single stranded DNA antibodies. It is unknown whether PV-B19 infection is an environmental factor that trigger or reactivate SLE in the Mexican Mayan population...
September 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/29207444/abnormal-b-cell-development-in-systemic-lupus-erythematosus-what-the-genetics-tell-us
#8
REVIEW
Sarah Karrar, Deborah S Cunninghame Graham
Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterised by B-cell dysfunction, production of autoantibodies directed towards cellular and nuclear components and tissue damage caused by immune complex deposition and inflammation. It largely affects women in the 3rd and 4th decades of life and is associated with significant morbidity and mortality. In healthy individuals, B-cells with auto-reactive receptors are selected out during B-cell maturation, starting at the initial stages of B-cell receptor development in the bone marrow, through to the fine tuning that occurs in activated mature B-cells in secondary lymphoid tissue...
December 5, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29205894/association-of-angiotensin-converting-enzyme-insertion-deletion-polymorphism-with-susceptibility-to-systemic-lupus-erythematosus-a-meta-analysis
#9
An-Fang Huang, Hui Li, Lei Ke, Chao Yang, Xiao-Yan Liu, Zu-Cheng Yang, Fen Xu, Hong Jia, Wang-Dong Xu
BACKGROUND: The aim of this study was to determine whether the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism confers susceptibility to systemic lupus erythematosus (SLE)/lupus nephritis (LN). METHODS: A meta-analysis was conducted on the association between the ACE I/D polymorphism and SLE/LN (when available) using: (i) the allelic contrast; (ii) the recessive; (iii) the dominant; and (iv) the additive models. RESULTS: A total of 27 relevant comparisons meeting the inclusion criteria were identified, involving 2718 SLE patients and 3655 controls...
December 5, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29194108/epigenetics-of-inflammatory-arthritis
#10
Deepa Hammaker, Gary S Firestein
PURPOSE OF REVIEW: Aberrant epigenetic changes in DNA methylation, histone marks, and noncoding RNA expression regulate the pathogenesis of many rheumatic diseases. The present article will review the recent advances in the epigenetic profile of inflammatory arthritis and discuss diagnostic biomarkers and potential therapeutic targets. RECENT FINDINGS: Methylation signatures of fibroblast-like synoviocytes not only distinguish rheumatoid arthritis (RA) and osteoarthritis (OA), but also early RAs from late RAs or juvenile idiopathic arthritis...
November 30, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/29190882/functional-polymorphisms-in-pre-mir146a-and-pre-mir499-are-associated-with-systemic-lupus-erythematosus-but-not-with-rheumatoid-arthritis-or-graves-disease-in-mexican-patients
#11
Isidro Alemán-Ávila, Mayra Jiménez-Morales, Olga Beltrán-Ramírez, Rosa Elda Barbosa-Cobos, Silvia Jiménez-Morales, Fausto Sánchez-Muñoz, Guillermo Valencia-Pacheco, Luis M Amezcua-Guerra, Yaneli Juárez-Vicuña, Dulce Milagro Razo-Blanco Hernández, María Concepción Aguilera-Cartas, Ricardo F López-Villanueva, Oscar Peralta-Zaragoza, Carlos Tovilla-Zárate, Julian Ramírez-Bello
Recently, different microRNA (miRNA) gene polymorphisms have been evaluated in patients with rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), and Graves' disease (GD). In the present study, we examined three single-nucleotide polymorphisms (SNPs) located in the pre-miR-146a (rs2910164G/C), pre-miR-196a-2 (rs11614913C/T), and pre-miR-499 (rs3746444A/G) genes. Our study population included 900 Mexican patients with RA, SLE, or GD, as well as 486 healthy control individuals with no family history of inflammatory or autoimmune diseases...
November 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29173007/predictors-and-outcome-of-systemic-lupus-erythematosus-sle-admission-rates-in-a-large-teaching-hospital-in-sub-saharan-africa
#12
D Dzifa, V Boima, E Yorke, A Yawson, V Ganu, C Mate-Kole
Although it was previously believed that systemic lupus erythematosus was uncommon among Africans, it has become increasingly apparent that the incidence is higher, and socioeconomic challenges such as physician shortages, poor medical facility access, and poor health literacy may worsen prognosis. This retrospective study examines characteristics and outcomes of hospitalized systemic lupus erythematosus patients over a two-year period and serves as a baseline for comparison for future studies to examine the outcomes with the provision of more dedicated care...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/29169635/environmental-triggers-in-systemic-lupus-erythematosus
#13
REVIEW
Gaurav Gulati, Hermine I Brunner
Systemic lupus erythematosus (SLE) is an autoimmune disease that can affect almost any organ in the human body. Despite significant advancements in our understanding of SLE over the recent years, its exact mode of onset and disease progression remains elusive. Low concordance rates among monozygotic twins with SLE (as low as 24%), clustering of disease prevalence around polluted regions and an urban-rural difference in prevalence all highlight the importance of environmental influences in SLE. Experimental data strongly suggests a complex interaction between the exposome (or environmental influences) and genome (genetic material) to produce epigenetic changes (epigenome) that can alter the expression of genetic material and lead to development of disease in the susceptible individual...
October 5, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/29155234/survivin-and-autoimmunity-the-ins-and-outs
#14
REVIEW
Hamidreza Ebrahimiyan, Saeed Aslani, Nima Rezaei, Ahmadreza Jamshidi, Mahdi Mahmoudi
Autoimmunity is a status that immune mechanisms react against self-structure. The immune mechanisms, including cellular and molecular elements have been developed to immune body against foreign invades. Multiple factors such as genetic and epigenetic background, hormonal status, microbiome, and other factors can cause launching the autoreactive responses, in which the immune tolerance breaks and immune mechanisms are against self-antigens. Apoptosis is one of the important mechanisms in maintaining the tolerance and eliminating the autoreactive lymphocyte clones...
November 16, 2017: Immunology Letters
https://www.readbyqxmd.com/read/29115062/monogenic-interferonopathies-phenotypic-and-genotypic-findings-of-candle-syndrome-and-its-overlap-with-c1q-deficient-sle
#15
Sulaiman M Al-Mayouf, Alhanouf AlSaleem, Nora AlMutairi, Abdullah AlSonbul, Tariq Alzaid, Anas M Alazami, Hamoud Al-Mousa
OBJECTIVE: To report the clinical and genetic features of the first cases of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome in an Arab population and to compare them with patients of C1q deficient systemic lupus erythematosus (SLE). MATERIALS AND METHODS: This is a retrospective case series of patients with CANDLE syndrome and C1q deficient SLE seen at a single tertiary hospital. Medical records were reviewed for demographic data, clinical and laboratory features, histopathology and imaging findings, and response to therapeutic intervention...
November 8, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29080553/comprehensive-approach-to-study-complement-c4-in-systemic-lupus-erythematosus-gene-polymorphisms-protein-levels-and-functional-activity
#16
M W P Tsang-A-Sjoe, I E M Bultink, L A Korswagen, A van der Horst, I Rensink, M de Boer, D Hamann, A E Voskuyl, D Wouters
Genetic variation of the genes encoding complement component C4 is strongly associated with systemic lupus erythematosus (SLE), a chronic multi-organ auto-immune disease. This study examined C4 and its isotypes on a genetic, protein, and functional level in 140 SLE patients and 104 healthy controls. Gene copy number (GCN) variation, silencing CT-insertion, and the retroviral HERV-K(C4) insertion) were analyzed with multiplex ligation-dependent probe amplification. Increased susceptibility to SLE was found for low GCN (≪2) of C4A...
October 25, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/29070672/broad-susceptibility-of-nucleolar-proteins-and-autoantigens-to-complement-c1-protease-degradation
#17
Yitian Cai, Seng Yin Kelly Wee, Junjie Chen, Boon Heng Dennis Teo, Yee Leng Carol Ng, Khai Pang Leong, Jinhua Lu
Anti-nuclear autoantibodies, which frequently target the nucleoli, are pathogenic hallmarks of systemic lupus erythematosus (SLE). Although the causes of these Abs remain broad and ill-defined, a genetic deficiency in C1 complex (C1qC1r2C1s2) or C4 is able to induce these Abs. Considering a recent finding that, in dead cells, nucleoli were targeted by C1q and two nucleolar autoantigens were degraded by C1r/C1s proteases, we considered that C1 could help protect against antinuclear autoimmunity by broadly degrading nucleolar proteins or autoantigens...
October 25, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29070082/sex-influences-eqtl-effects-of-sle-and-sj%C3%A3-gren-s-syndrome-associated-genetic-polymorphisms
#18
Magdalena Lindén, Jorge I Ramírez Sepúlveda, Tojo James, Gudny Ella Thorlacius, Susanna Brauner, David Gómez-Cabrero, Tomas Olsson, Ingrid Kockum, Marie Wahren-Herlenius
BACKGROUND: Systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS) are autoimmune disorders characterized by autoantibodies, dysregulated B cells, and notably high female-to-male incidence ratios. Genome-wide association studies have identified several susceptibility SNPs for both diseases. Many SNPs in the genome are expression quantitative trait loci (eQTLs), with context-dependent effects. Assuming that sex is a biological context, we investigated whether SLE/pSS SNPs act as eQTLs in B cells and used a disease-targeted approach to understand if they display sex-specific effects...
October 25, 2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/29050534/low-copy-numbers-of-complement-c4-and-homozygous-deficiency-of-c4a-may-predispose-to-severe-disease-and-earlier-disease-onset-in-patients-with-systemic-lupus-erythematosus
#19
M Jüptner, F Flachsbart, A Caliebe, W Lieb, S Schreiber, R Zeuner, A Franke, J O Schröder
Objectives Low copy numbers and deletion of complement C4 genes are potent risk factors for systemic lupus erythematosus (SLE). However, it is not known whether this genetic association affects the clinical outcome. We investigated C4 copy number variation and its relationship to clinical and serological features in a Northern European lupus cohort. Methods We genotyped the C4 gene locus using polymerase chain reaction (PCR)-based TaqMan assays in 169 patients with SLE classified according to the 1997 revised American College of Rheumatology (ACR) criteria and in 520 matched controls...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/29044928/a-rare-variant-rs933717-at-fbxo31-map1lc3b-in-chinese-is-associated-with-systemic-lupus-erythematosus
#20
Yuan-Yuan Qi, Xu-Jie Zhou, Swapan K Nath, Celi Sun, Yan-Na Wang, Ping Hou, Rong Mu, Chun Li, Jian-Ping Guo, Zhan-Guo Li, Geng Wang, Hu-Ji Xu, Yan-Jie Hao, Zhuo-Li Zhang, Wei-Hua Yue, Huo-Ru Zhang, Ming-Hui Zhao, Hong Zhang
OBJECTIVE: Recent evidence from genetic, cell biology and model animal studies have suggested a pivotal role of autophagy in mediating systemic lupus erythematosus (SLE). However, the genetic basis has not yet been thoroughly examined. The aim of the present study was therefore to identify additional susceptibility variants in autophagy-related genes, and their functional significance. METHODS: First, we performed a gene family-based genetic association analysis in patients with SLE using ImmunoChip, and selected the top-associated polymorphisms for replication in additional cohorts...
October 17, 2017: Arthritis & Rheumatology
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