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SLE genetics

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https://www.readbyqxmd.com/read/28099919/autophagy-related-gene-lrrk2-is-likely-a-susceptibility-gene-for-systemic-lupus-erythematosus-in-northern-han-chinese
#1
Yue-Miao Zhang, Xu-Jie Zhou, Fa-Juan Cheng, Yuan-Yuan Qi, Ping Hou, Ming-Hui Zhao, Hong Zhang
Autophagy is associated with various immune diseases, including systemic lupus erythematosus (SLE). Seven variants within autophagy-related genes previously reported to show top association signals by genome-wide association studies in immune diseases were selected for analysis. Initially, 510 SLE patients (631 controls) were enrolled in the study. An additional independent cohort of 511 SLE patients (687 controls) was included for replication. Polymorphism rs2638272 in LRRK2 gene showed significant association with susceptibility to SLE (P = 1...
January 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/28097447/mannose-binding-lectin-mbl-codon-54-rs1800450-polymorphism-predisposes-towards-medium-vessel-vasculitis-in-patients-with-systemic-lupus-erythematosus
#2
Vir Singh Negi, Panneer Devaraju, Durga Prasanna Misra, Vikramraj K Jain, Jignesh Babulal Usdadiya, Paul T Antony, Reena Gulati
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multiple etiological factors. Mannose-binding lectin (MBL) plays a key role in innate immunity by activating antibody-independent lectin complement pathway, opsonisation, phagocytosis, and immune complex (IC) clearance. Genetic polymorphisms in the promoter and coding regions of MBL gene affect the circulatory levels and biological activity of MBL. Defects in MBL can lead to defective opsonisation and, hence, hamper clearance of apoptotic debris, the persistence of which can drive autoantibody formation in lupus...
January 17, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28094303/genetic-polymorphisms-of-rs3077-and-rs9277535-in-hla-dp-associated-with-systemic-lupus-erythematosus-in-a-chinese-population
#3
Junlong Zhang, Wenli Zhan, Bin Yang, Anning Tian, Lin Chen, Yun Liao, Yongkang Wu, Bei Cai, Lanlan Wang
Although the SLE risk gene loci of HLA-DR and HLA-DQ within the major histocompatibility complex (MHC) region has been gradually revealed by recent Genome-Wide Association studies (GWAS), the association of HLA-DP polymorphisms with SLE was minimally reported. Considering that the variants in rs3077 and rs9277535 in the HLA-DP region could influence the immune response by affecting antigen presentation of HLA class II molecules to CD4(+) T cells, the present study aimed to explore the role of HLA-DP polymorphisms in SLE...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28089979/quality-of-care-for-systemic-lupus-erythematosus-mind-the-knowledge-gap
#4
Vera Golder, Eric F Morand, Alberta Y Hoi
Systemic lupus erythematosus (SLE) is a prototypical chronic multiorgan autoimmune disorder that can lead to significant burden of disease and loss of life expectancy. The disease burden is the result of a complex interplay between genetic, biologic, socioeconomic, and health system variables affecting the individual. Recent advances in biological understanding of SLE are yet to translate to transformative therapies, and genetic and socioeconomic variables are not readily amenable to intervention. In contrast, healthcare quality, a variable readily amenable to change, has been inadequately addressed in SLE, despite evidence in other chronic diseases that quality of care is strongly associated with patient outcomes...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28062664/mapping-eqtls-with-rna-seq-reveals-novel-susceptibility-genes-non-coding-rnas-and-alternative-splicing-events-in-systemic-lupus-erythematosus
#5
Christopher A Odhams, Andrea Cortini, Lingyan Chen, Amy L Roberts, Ana Viñuela, Alfonso Buil, Kerrin S Small, Emmanouil T Dermitzakis, David L Morris, Timothy J Vyse, Deborah S Cunninghame Graham
Studies attempting to functionally interpret complex-disease susceptibility loci by GWAS and eQTL integration have predominantly employed microarrays to quantify gene-expression. RNA-Seq has the potential to discover a more comprehensive set of eQTLs and illuminate the underlying molecular consequence. We examine the functional outcome of 39 variants associated with Systemic Lupus Erythematosus (SLE) through integration of GWAS and eQTL data from the TwinsUK microarray and RNA-Seq cohort in lymphoblastoid cell lines...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28059022/autoimmune-inflammatory-syndrome-induced-by-adjuvants-shoenfeld-s-syndrome-an-update
#6
A Watad, M Quaresma, S Brown, J W Cohen Tervaert, I Rodríguez-Pint, R Cervera, C Perricone, Y Shoenfeld
Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28039062/familial-and-syndromic-lupus-share-the-same-phenotype-as-other-early-onset-forms-of-lupus
#7
Olivia Weill, Stéphane Decramer, Christophe Malcus, Behrouz Kassai, Isabelle Rouvet, Tiphanie Ginhoux, Yanick Crow, Fredéric Rieux-Laucat, Pauline Soulas-Sprauel, Anne Pagnier, Isabelle Koné-Paut, Maryam Piram, Caroline Galeotti, Charlotte Samaille, Héloïse Reumaux, Aurélia Lanteri, Sandrine Morell Dubois, Hélène Lefebvre, Stéphane Burtey, François Maurier, Aurélia Carbasse, Irène Lemelle, Ulrich Meinzer, Véronique Despert, Hugues Flodrops, Nicole Fabien, Bruno Ranchin, Eric Hachulla, Brigitte Bader Meunier, Alexandre Belot
OBJECTIVE: Studies of early-onset systemic lupus erythematosus (SLE) have identified monogenic forms of the disease. The primary objective of this study was to compare the clinical and laboratory features of the first patients included in the GENIAL/LUMUGENE cohort to those reported in previous publications. The secondary objective was to determine whether subgroups with a distinctive pattern of clinical and biological features are seen in predominantly genetic forms of SLE. METHODS: GENIAL/LUMUGENE is a French nationwide study of the clinical, immunological, and genetic features of juvenile-onset SLE (clinicaltrials...
December 27, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28035990/dysregulation-of-cell-death-and-its-epigenetic-mechanisms-in-systemic-lupus-erythematosus
#8
REVIEW
Haijing Wu, Siqi Fu, Ming Zhao, Liwei Lu, Qianjin Lu
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease involving multiple organs and tissues, which is characterized by the presence of excessive anti-nuclear autoantibodies. The pathogenesis of SLE has been intensively studied but remains far from clear. Increasing evidence has shown that the genetic susceptibilities and environmental factors-induced abnormalities in immune cells, dysregulation of apoptosis, and defects in the clearance of apoptotic materials contribute to the development of SLE...
December 27, 2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28013204/modelling-clinical-systemic-lupus-erythematosus-similarities-differences-and-success-stories
#9
REVIEW
Teja Celhar, Anna-Marie Fairhurst
Mouse models of SLE have been indispensable tools to study disease pathogenesis, to identify genetic susceptibility loci and targets for drug development, and for preclinical testing of novel therapeutics. Recent insights into immunological mechanisms of disease progression have boosted a revival in SLE drug development. Despite promising results in mouse studies, many novel drugs have failed to meet clinical end points. This is probably because of the complexity of the disease, which is driven by polygenic predisposition and diverse environmental factors, resulting in a heterogeneous clinical presentation...
December 24, 2016: Rheumatology
https://www.readbyqxmd.com/read/28003329/early-onset-juvenile-sle-associated-with-a-novel-mutation-in-protein-kinase-c-%C3%AE
#10
Sira Nanthapisal, Ebun Omoyinmi, Claire Murphy, Ariane Standing, Michael Eisenhut, Despina Eleftheriou, Paul A Brogan
Juvenile systemic lupus erythematosus (jSLE) is rare before 5 years of age. Monogenic causes are suspected in cases of very early onset jSLE particularly in the context of a family history and/or consanguinity. We performed whole-exome sequencing and homozygosity mapping in the siblings presented with early-onset jSLE. A novel homozygous missense mutation in protein kinase C delta (c.1294G>T; p.Gly432Trp) was identified in both patients. One patient showed a marked clinical response and resolution inflammation with rituximab therapy...
January 2017: Pediatrics
https://www.readbyqxmd.com/read/27992697/vista-deficiency-accelerates-the-development-of-fatal-murine-lupus-nephritis
#11
Sabrina Ceeraz, Petra A Sergent, Sean F Plummer, Alan R Schned, Dov Pechenick, Christopher M Burns, Randolph J Noelle
OBJECTIVES: The targeting of negative checkpoint regulators (NCRs) as a means of augmenting anti-tumor immune responses is now an increasingly utilized and remarkably effective approach to the treatment of several human malignancies. The NCR VISTA (V-domain Ig suppressor of T cell activation, PD-1H, DD1α) suppresses T cell responses and regulates myeloid activities. We proposed that exploitation of the VISTA pathway is a novel strategy for the treatment of human autoimmune disease and therefore studied the impact of VISTA genetic deficiency on lupus development in a lupus-prone mouse strain...
December 19, 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27992002/neuropsychiatric-lupus-in-clinical-practice
#12
Helena Alessi, Lívia Almeida Dutra, Pedro Braga, José Luiz Pedroso, Fabio F Toso, Cristiane Kayser, Orlando G P Barsottini
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease involving multiple organs, characterized by the production of autoantibodies and the development of tissue injury. The etiology of SLE is partially known, involving multiple genetic and environmental factors. As many as 50% of patients with SLE have neurological involvement during the course of their disease. Neurological manifestations are associated with impaired quality of life, and high morbidity and mortality rates. Nineteen neuropsychiatric syndromes have been identified associated with SLE, and can be divided into central and peripheral manifestations...
December 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27987522/-interleukin-2-signaling-pathway-regulating-molecules-in-systemic-lupus-erythematosus
#13
Q Guo, X Y Chen, Y Su
Systemic lupus erythematosus (SLE) is a prototypic systemic autoimmune disease, which characterized by complex immunological abnormalities and multiple tissue and organ damages. The etiology and pathogenesis of SLE have not been entirely recognized. Genetic, environmental and viral infections and other factors might be related to the pathogenetic mechanisms of SLE. Interleukin-2 (IL-2) is a critical cytokine produced by T cells upon activation and is important for the generation of T regulatory cells and activation-induced cell death...
December 18, 2016: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/27940592/cd3z-hypermethylation-is-associated-with-severe-clinical-manifestations-in-systemic-lupus-erythematosus-and-reduces-cd3%C3%AE-chain-expression-in-t-cells
#14
Kyeong-Man Hong, Hyun-Kyoung Kim, Seong-Yeol Park, Shiv Poojan, Mi-Kyung Kim, Joohon Sung, Betty P Tsao, Jennifer M Grossman, Ornella J Rullo, Jennifer M P Woo, Deborah K McCurdy, Lisa G Rider, Frederick W Miller, Yeong-Wook Song
OBJECTIVE: The importance of hypomethylation in SLE is well recognized; however, the significance of hypermethylation has not been well characterized. We screened hypermethylated marks in SLE and investigated their possible implications. METHODS: DNA methylation marks were screened in SLE whole-blood DNA by microarray, and two marks (CD3Z and VHL hypermethylations) were confirmed by a methylation single-base extension method in two independent ethnic cohorts consisting of 207 SLE patients and 151 controls...
December 10, 2016: Rheumatology
https://www.readbyqxmd.com/read/27940583/the-effect-of-ethnicity-and-genetic-ancestry-on-the-epidemiology-clinical-features-and-outcome-of-systemic-lupus-erythematosus
#15
Myles J Lewis, Ali S Jawad
In this in-depth review, we examine the worldwide epidemiology of SLE and summarize current knowledge on the influence of race/ethnicity on clinical manifestations, disease activity, damage accumulation and outcome in SLE. Susceptibility to SLE has a strong genetic component, and trans-ancestral genetic studies have revealed a substantial commonality of shared genetic risk variants across different genetic ancestries that predispose to the development of SLE. The highest increased risk of developing SLE is observed in black individuals (incidence 5- to 9-fold increased, prevalence 2- to 3-fold increased), with an increased risk also observed in South Asians, East Asians and other non-white groups, compared with white individuals...
December 10, 2016: Rheumatology
https://www.readbyqxmd.com/read/27933432/lupus-pathobiology-based-on-genomics
#16
REVIEW
Mohammad Saeed
Systemic lupus erythematosus (SLE) is an autoimmune disorder with complex genetic underpinnings. This review attempts to assemble the myriad of genomic findings to build a clearer picture of the pathobiology of SLE to serve as a guide for therapeutics. Over 100 genes are now known for SLE, and several more penetrant ones have led to the emergence of more defined lupus phenotypes. Also discussed here are the targeted therapies that have come up on the horizon and the specific biologic mechanisms of more traditional therapies which have only recently been explored...
January 2017: Immunogenetics
https://www.readbyqxmd.com/read/27909160/evaluation-of-polymorphic-variants-in-apoptotic-genes-and-their-role-in-susceptibility-and-clinical-progression-to-systemic-lupus-erythematosus
#17
N Glesse, P Vianna, L M G Paim, M C C Matte, A K K Aguiar, P L Palhano, O A Monticielo, C V Brenol, R M Xavier, J A B Chies
BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune disease marked by the disruption of the immune homeostasis. Patients exhibit a wide range of clinical manifestations, and environmental and genetic factors are involved in SLE pathogenesis. Evidence suggests that abnormalities in the cellular and molecular events that coordinate apoptosis may favour the generation of autoantigens involved in autoimmunity. In this way, the apoptotic deregulation may be affected by polymorphic variants in apoptotic-related genes...
November 30, 2016: Lupus
https://www.readbyqxmd.com/read/27906046/chromatin-landscapes-and-genetic-risk-in-systemic-lupus
#18
Joyce S Hui-Yuen, Lisha Zhu, Lai Ping Wong, Kaiyu Jiang, Yanmin Chen, Tao Liu, James N Jarvis
BACKGROUND: Systemic lupus erythematosus (SLE) is a multi-system, complex disease in which the environment interacts with inherited genes to produce broad phenotypes with inter-individual variability. Of 46 single nucleotide polymorphisms (SNPs) shown to confer genetic risk for SLE in recent genome-wide association studies, 30 lie within noncoding regions of the human genome. We therefore sought to identify and describe the functional elements (aside from genes) located within these regions of interest...
December 1, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27885845/dna-methylation-in-systemic-lupus-erythematosus
#19
Christian M Hedrich, Katrin Mäbert, Thomas Rauen, George C Tsokos
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease facilitated by aberrant immune responses directed against cells and tissues, resulting in inflammation and organ damage. In the majority of patients, genetic predisposition is accompanied by additional factors conferring disease expression. While the exact molecular mechanisms remain elusive, epigenetic alterations in immune cells have been demonstrated to play a key role in disease pathogenesis through the dysregulation of gene expression...
November 25, 2016: Epigenomics
https://www.readbyqxmd.com/read/27879428/a-polymorphism-upstream-mir1279-gene-is-associated-with-pericarditis-development-in-systemic-lupus-erythematosus-and-contributes-to-definition-of-a-genetic-risk-profile-for-this-complication
#20
C Ciccacci, C Perricone, C Politi, S Rufini, F Ceccarelli, E Cipriano, C Alessandri, A Latini, G Valesini, G Novelli, F Conti, P Borgiani
Recently, a study has shown that a polymorphism in the region of MIR1279 modulates the expression of the TRAF3IP2 gene. Since polymorphisms in the TRAF3IP2 gene have been described in association with systemic lupus erithematosus (SLE) susceptibility and with the development of pericarditis, our aim is to verify if the MIR1279 gene variability could also be involved. The rs1463335 SNP, located upstream MIR1279 gene, was analyzed by allelic discrimination assay in 315 Italian SLE patients and 201 healthy controls...
November 22, 2016: Lupus
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