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Genetic lupus

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https://www.readbyqxmd.com/read/28108556/confirmation-of-five-novel-susceptibility-loci-for-systemic-lupus-erythematosus-sle-and-integrated-network-analysis-of-82-sle-susceptibility-loci
#1
Julio E Molineros, Wanling Yang, Xu-Jie Zhou, Celi Sun, Yukinori Okada, Huoru Zhang, Kek Heng Chua, Yu-Lung Lau, Yuta Kochi, Akari Suzuki, Kazuhiko Yamamoto, Jianyang Ma, So-Young Bang, Hye-Soon Lee, Kwangwoo Kim, Sang-Cheol Bae, Hong Zhang, Nan Shen, Loren L Looger, Swapan K Nath
We recently identified ten novel SLE susceptibility loci in Asians and uncovered several additional suggestive loci requiring further validation. This study aimed to replicate five of these suggestive loci in a Han Chinese cohort from Hong Kong, followed by meta-analysis (11,656 cases and 23,968 controls) on previously reported Asian and European populations, and perform bioinformatic analyses on all 82 reported SLE loci to identify shared regulatory signatures. We performed a battery of analyses for these five loci, as well as joint analyses on all 82 SLE loci...
January 20, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28099919/autophagy-related-gene-lrrk2-is-likely-a-susceptibility-gene-for-systemic-lupus-erythematosus-in-northern-han-chinese
#2
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/28098193/non-pathogenic-tissue-resident-cd8-t-cells-uniquely-accumulate-in-the-brains-of-lupus-prone-mice
#3
Peter A Morawski, Chen-Feng Qi, Silvia Bolland
Severe lupus often includes psychiatric and neurological sequelae, although the cellular contributors to CNS disease remain poorly defined. Using intravascular staining to discriminate tissue-localized from blood-borne cells, we find substantial accumulation of CD8(+) T cells relative to other lymphocytes in brain tissue, which correlates with lupus disease and limited neuropathology. This is in contrast to all other affected organs, where infiltrating CD4(+) cells are predominant. Brain-infiltrating CD8(+) T cells represent an activated subset of those found in the periphery, having a resident-memory phenotype (CD69(+)CD122(-)PD1(+)CD44(+)CD62L(-)) and expressing adhesion molecules (VLA-4(+)LFA-1(+)) complementary to activated brain endothelium...
January 18, 2017: Scientific Reports
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
#4
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/28095714/disease-related-and-drug-induced-skin-manifestations-in-inflammatory-bowel-disease
#5
Pieter Hindryckx, Gregor Novak, Antonio Costanzo, Silvio Danese
Skin manifestations are common in patients with inflammatory bowel diseases (IBD) and can be part of a concomitant illness with a shared genetic background, an extra-intestinal manifestation of the disease, or a drug side-effect. Areas covered: We provide a practical overview of the epidemiology, pathogenesis, diagnosis, therapeutic approach and prognosis of the most frequent disease-related and drug-induced cutaneous manifestations in IBD, illustrated by cases encountered in our clinical practice. Among the most frequently encountered IBD-related lesions are erythema nodosum, pyoderma gangrenosum and Sweet's syndrome...
January 17, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28094303/genetic-polymorphisms-of-rs3077-and-rs9277535-in-hla-dp-associated-with-systemic-lupus-erythematosus-in-a-chinese-population
#6
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
#7
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
#8
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
#9
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/28056736/investigation-of-associations-between-autoimmunity-associated-variants-in-pdcd1-and-juvenile-idiopathic-arthritis
#10
Christina I Tejeda, K Alaine Broadaway, Milton R Brown, Lori A Ponder, Michael J Ombrello, Mina Rohani Pichavant, Gabriel Wang, Sheila T Angeles-Han, Aimee O Hersh, John F Bohnsack, Karen N Conneely, Michael P Epstein, Sampath Prahalad
PURPOSE: Variants in the gene encoding Programmed Cell Death-1 (PDCD1) have been associated with susceptibility to Systemic Lupus Erythematosus and other autoimmune diseases. Given that clinically distinct autoimmune phenotypes share common genetic susceptibility factors, variants in PDCD-1 were tested for a possible association with Juvenile Idiopathic Arthritis (JIA). METHODS: Four single nucleotide polymorphisms (SNPS) in the PDCD1 gene were genotyped and analyzed: rs10204525, rs7568402, rs7421861 and rs11568821 in 834 cases and 855 self-identified Caucasian controls...
January 4, 2017: Current Rheumatology Reviews
https://www.readbyqxmd.com/read/28039062/familial-and-syndromic-lupus-share-the-same-phenotype-as-other-early-onset-forms-of-lupus
#11
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
#12
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
#13
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
#14
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/28002528/redundant-plantar-skin-folds
#15
Laura Otilia Damian, Siao Pin Simon, Ioana Felea, Carolina Botar-Jid, Bogdan Stancu, Liliana Rogojan, Cristina Ana Maria Pamfil, Adriana Albu, Simona Rednic
A 46-year-old female patient presented with photosensitivity, symmetric arthritis, episodic plantar pain and strikingly redundant plantar skin folds, likely due to lipoatrophy after recurrent episodes of plantar panniculitis. In this context, leukopenia with lymphopenia, thrombocytopenia and positive antinuclear antibodies were revelatory for systemic lupus erythematosus. However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27992697/vista-deficiency-accelerates-the-development-of-fatal-murine-lupus-nephritis
#16
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
#17
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
#18
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/27965669/complement-regulator-fhr-3-is-elevated-either-locally-or-systemically-in-a-selection-of-autoimmune-diseases
#19
Nicole Schäfer, Antje Grosche, Joerg Reinders, Stefanie M Hauck, Richard B Pouw, Taco W Kuijpers, Diana Wouters, Boris Ehrenstein, Volker Enzmann, Peter F Zipfel, Christine Skerka, Diana Pauly
The human complement factor H-related protein-3 (FHR-3) is a soluble regulator of the complement system. Homozygous cfhr3/1 deletion is a genetic risk factor for the autoimmune form of atypical hemolytic-uremic syndrome (aHUS), while also found to be protective in age-related macular degeneration (AMD). The precise function of FHR-3 remains to be fully characterized. We generated four mouse monoclonal antibodies (mAbs) for FHR-3 (RETC) without cross-reactivity to the complement factor H (FH)-family. These antibodies detected FHR-3 from human serum with a mean concentration of 1 μg/mL...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27943079/assessment-of-type-i-interferon-signaling-in-pediatric-inflammatory-disease
#20
Gillian I Rice, Isabelle Melki, Marie-Louise Frémond, Tracy A Briggs, Mathieu P Rodero, Naoki Kitabayashi, Anthony Oojageer, Brigitte Bader-Meunier, Alexandre Belot, Christine Bodemer, Pierre Quartier, Yanick J Crow
PURPOSE: Increased type I interferon is considered relevant to the pathology of a number of monogenic and complex disorders spanning pediatric rheumatology, neurology, and dermatology. However, no test exists in routine clinical practice to identify enhanced interferon signaling, thus limiting the ability to diagnose and monitor treatment of these diseases. Here, we set out to investigate the use of an assay measuring the expression of a panel of interferon-stimulated genes (ISGs) in children affected by a range of inflammatory diseases...
December 9, 2016: Journal of Clinical Immunology
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