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SLE genetics

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https://www.readbyqxmd.com/read/29437559/dna-methylation-mapping-identifies-gene-regulatory-effects-in-patients-with-systemic-lupus-erythematosus
#1
Juliana Imgenberg-Kreuz, Jonas Carlsson Almlöf, Dag Leonard, Andrei Alexsson, Gunnel Nordmark, Maija-Leena Eloranta, Solbritt Rantapää-Dahlqvist, Anders A Bengtsson, Andreas Jönsen, Leonid Padyukov, Iva Gunnarsson, Elisabet Svenungsson, Christopher Sjöwall, Lars Rönnblom, Ann-Christine Syvänen, Johanna K Sandling
OBJECTIVES: Systemic lupus erythematosus (SLE) is a chronic autoimmune condition with heterogeneous presentation and complex aetiology where DNA methylation changes are emerging as a contributing factor. In order to discover novel epigenetic associations and investigate their relationship to genetic risk for SLE, we analysed DNA methylation profiles in a large collection of patients with SLE and healthy individuals. METHODS: DNA extracted from blood from 548 patients with SLE and 587 healthy controls were analysed on the Illumina HumanMethylation 450 k BeadChip, which targets 485 000 CpG sites across the genome...
February 1, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29425851/mechanistic-aspects-of-epigenetic-dysregulation-in-sle
#2
Christian Michael Hedrich
Epigenetic events have been linked with disease expression in individuals genetically predisposed to the development of systemic lupus erythematosus (SLE), a severe systemic autoimmune/inflammatory disease. Altered DNA methylation and hydroxymethylation as well as histone modifications mediate changes in chromatin accessibility and gene expression in immune cells from SLE patients. Defective epigenetic control contributes to uncontrolled expression of inflammatory mediators, including cytokines and co-receptors, resulting in systemic inflammation and tissue damage...
February 6, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29368845/cutaneous-lupus-erythematosus-clinico-pathologic-correlation
#3
Raffaele Filotico, Valentina Mastrandrea
Cutaneous lupus erythematosus (CLE) is a chronic-relapsing disease. It is defined as a LE localized to the skin without any significant systemic symptoms. Its annual incidence is of 4 cases per 100,000 persons with a prevalence of 73 cases per 100,000 persons. The etiology is unknown but it is considered as a prototype of autoimmune disease in which genetic factors (HLA), environmental factors (photo exposure and cigarette smoking) and pharmacological agents play an important role. The most accepted classification includes three clinical variants: acute (ACLE), subacute (SCLE) and chronic (CCLE)...
January 24, 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29361205/twin-dna-methylation-profiling-reveals-flare-dependent-interferon-signature-and-b-cell-promoter-hypermethylation-in-systemic-lupus-erythematosus
#4
Constance J Ulff-Møller, Fazila Asmar, Yi Liu, Anders J Svendsen, Florence Busato, Kirsten Grønbaek, Jörg Tost, Søren Jacobsen
OBJECTIVE: Systemic lupus erythematosus (SLE) has limited monozygotic (MZ) twin concordance, implying a role for other pathogenic factors than genetic variation, such as epigenetic changes. Using the disease discordant twin model, we investigated genome-wide DNA methylation changes in sorted CD4+ T-cells, monocytes, granulocytes and B-cells in twin pairs with at least one SLE-affected twin. METHODS: Peripheral blood from 15 SLE twin pairs (six MZ, nine dizygotic (DZ)) was processed using gradient density centrifugation for the granulocyte fraction...
January 23, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29353100/vitamin-d-and-juvenile-systemic-lupus-erythematosus-lights-shadows-and-still-unresolved-issues
#5
REVIEW
Stefano Stagi, Donato Rigante
Systemic lupus erythematosus (SLE) and juvenile SLE (jSLE) are autoimmune disorders naturally associated with several genetic, environmental, hormonal, and immunological contributing factors. It has been assumed that vitamin D deficiency may have a role in the immune activation of patients with SLE and play an active part in many comorbidities and even complications. A host of clinical studies suggested that vitamin D exerts inhibitory effects on many immunological abnormalities associated with SLE, also in children and adolescents, while different reports have hypothesized that vitamin D may be associated with accelerated cardiovascular disease in SLE...
January 15, 2018: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29329127/cutis-laxa-acquisita-after-urticarial-vasculitis-in-sle-patients
#6
Kimberly B Golisch, Silvija P Gottesman, Patricia Ferrer, Keliegh S Culpepper
Cutis laxa is a rare connective tissue disease involving damage to dermal elastic fibers creating a clinical appearance of loose, sagging skin. The condition can be either acquired or genetic. Autoimmune diseases, neoplasms, infections, and medications have been proposed as the cause of, or in association with, the acquired form. In nearly 50% of cases, erythematous plaques present before the onset of cutis laxa. Separately, urticarial vasculitis and systemic lupus erythematosus have been linked to cutis laxa acquisita...
January 11, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29312536/the-shared-and-specific-mechanism-of-four-autoimmune-diseases
#7
Meiwei Luan, Zhenwei Shang, Yanbo Teng, Xinren Chen, Mingming Zhang, Hongchao Lv, Ruijie Zhang
Interaction between genetic and epigenetic mechanisms may lead to autoimmune diseases. The features of these diseases show familial aggregation. The generality and specificity are keys to studying pathogenesis and etiology of them. This research integrated data of genetics and epigenetics, to find disease-related genes based on the levels of expression and regulation, and explored then to the shared and specific mechanism of them by analyzing shared and specific pathways of common four autoimmune diseases, including Type 1 Diabetes Mellitus (T1D), Multiple Sclerosis (MS), Rheumatoid Arthritis (RA) and Systemic Lupus Erythematosus (SLE)...
December 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29298134/the-synergistic-effect-of-tnfa-and-il10-promoter-polymorphisms-on-genetic-predisposition-to-systemic-lupus-erythematosus
#8
Irena Manolova, Lyuba Miteva, Mariana Ivanova, Todor Kundurzhiev, Rumen Stoilov, Spaska Stanilova
AIMS: We investigated the individual and combined effect of functional TNFA -308G/A and IL10 -1082G/A single nucleotide polymorphisms (SNPs) and their genotypes on the susceptibility to systemic lupus erythematosus (SLE) in a Bulgarian population. MATERIALS AND METHODS: Genotyping for -1082A/G IL10 (rs1800896) and -308G/A TNFA (rs1800629) polymorphisms was performed for 154 SLE patients and 224 healthy controls. RESULTS: An association between SLE and the rs1800629 polymorphism was established under the allelic model (allele A vs...
January 3, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29276866/association-of-stat4-gene-single-nucleotide-polymorphisms-with-iranian-juvenile-onset-systemic-lupus-erythematosus-patients
#9
Arash Salmaninejad, Mahdi Mahmoudi, Saeed Aslani, Shiva Poursani, Vahid Ziaee, Nima Rezaei
Salmaninejad A, Mahmoudi M, Aslani S, Poursani S, Ziaee V, Rezaei N. Association of STAT4 gene single nucleotide polymorphisms with Iranian juvenile-onset systemic lupus erythematosus patients. Turk J Pediatr 2017; 59: 144-149. Juvenile-onset systemic lupus erythematosus (JSLE) is a complex autoimmune disease, characterized by multi-organ involvement. Single nucleotide polymorphisms (SNPs) of signal transducer and activator of transcription 4 (STAT4) gene have been reported to have relationship with the risk of several autoimmune diseases...
2017: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/29245125/delayed-type-hypersensitivity-to-metals-in-connective-tissue-diseases-and-fibromyalgia
#10
REVIEW
Geir Bjørklund, Maryam Dadar, Jan Aaseth
Rheumatic diseases include a group of autoimmune disorders with environmental and genetic etiology that are characterized as a subgroup of connective tissue diseases (CTD). Rheumatoid arthritis (RA) often involves the small joints of the hands in a symmetrical fashion that can lead to loss of joint function, and RA, as well as Sjögren's syndrome (SS) and other rheumatic diseases, are often accompanied by sensitivity to metals. Numerous investigations on metal sensitivity were evaluated in this review. A detailed metal exposure history was collected by different evaluation of studies...
December 12, 2017: Environmental Research
https://www.readbyqxmd.com/read/29233832/exome-wide-association-study-identifies-four-novel-loci-for-systemic-lupus-erythematosus-in-han-chinese-population
#11
Leilei Wen, Caihong Zhu, Zhengwei Zhu, Chao Yang, Xiaodong Zheng, Lu Liu, Xianbo Zuo, Yujun Sheng, Huayang Tang, Bo Liang, Yi Zhou, Pan Li, Jun Zhu, Yantao Ding, Gang Chen, Jinping Gao, Lili Tang, Yuyan Cheng, Jingying Sun, Tamilselvi Elango, Anjana Kafle, Ruixing Yu, Ke Xue, Yaohua Zhang, Feng Li, Zhanguo Li, Jianping Guo, Xuan Zhang, Chen Zhou, Yuanjia Tang, Nan Shen, Meng Wang, Xueqing Yu, Shengxiu Liu, Xing Fan, Min Gao, Fengli Xiao, Peiguang Wang, Zaixing Wang, Anping Zhang, Fusheng Zhou, Liangdan Sun, Sen Yang, Jinhua Xu, Xianyong Yin, Yong Cui, Xuejun Zhang
OBJECTIVES: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of considerable genetic predisposition. Genome-wide association studies have identified tens of common variants for SLE. However, the majority of them reside in non-coding sequences. The contributions of coding variants have not yet been systematically evaluated. METHODS: We performed a large-scale exome-wide study in 5004 SLE cases and 8179 healthy controls in a Han Chinese population using a custom exome array, and then genotyped 32 variants with suggestive evidence in an independent cohort of 13 246 samples...
December 12, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29230954/association-between-vitamin-d-receptor-polymorphisms-and-systemic-lupus-erythematosus-in-an-indian-cohort
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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