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https://www.readbyqxmd.com/read/28714469/transancestral-mapping-and-genetic-load-in-systemic-lupus-erythematosus
#1
Carl D Langefeld, Hannah C Ainsworth, Deborah S Cunninghame Graham, Jennifer A Kelly, Mary E Comeau, Miranda C Marion, Timothy D Howard, Paula S Ramos, Jennifer A Croker, David L Morris, Johanna K Sandling, Jonas Carlsson Almlöf, Eduardo M Acevedo-Vásquez, Graciela S Alarcón, Alejandra M Babini, Vicente Baca, Anders A Bengtsson, Guillermo A Berbotto, Marc Bijl, Elizabeth E Brown, Hermine I Brunner, Mario H Cardiel, Luis Catoggio, Ricard Cervera, Jorge M Cucho-Venegas, Solbritt Rantapää Dahlqvist, Sandra D'Alfonso, Berta Martins Da Silva, Iñigo de la Rúa Figueroa, Andrea Doria, Jeffrey C Edberg, Emőke Endreffy, Jorge A Esquivel-Valerio, Paul R Fortin, Barry I Freedman, Johan Frostegård, Mercedes A García, Ignacio García de la Torre, Gary S Gilkeson, Dafna D Gladman, Iva Gunnarsson, Joel M Guthridge, Jennifer L Huggins, Judith A James, Cees G M Kallenberg, Diane L Kamen, David R Karp, Kenneth M Kaufman, Leah C Kottyan, László Kovács, Helle Laustrup, Bernard R Lauwerys, Quan-Zhen Li, Marco A Maradiaga-Ceceña, Javier Martín, Joseph M McCune, David R McWilliams, Joan T Merrill, Pedro Miranda, José F Moctezuma, Swapan K Nath, Timothy B Niewold, Lorena Orozco, Norberto Ortego-Centeno, Michelle Petri, Christian A Pineau, Bernardo A Pons-Estel, Janet Pope, Prithvi Raj, Rosalind Ramsey-Goldman, John D Reveille, Laurie P Russell, José M Sabio, Carlos A Aguilar-Salinas, Hugo R Scherbarth, Raffaella Scorza, Michael F Seldin, Christopher Sjöwall, Elisabet Svenungsson, Susan D Thompson, Sergio M A Toloza, Lennart Truedsson, Teresa Tusié-Luna, Carlos Vasconcelos, Luis M Vilá, Daniel J Wallace, Michael H Weisman, Joan E Wither, Tushar Bhangale, Jorge R Oksenberg, John D Rioux, Peter K Gregersen, Ann-Christine Syvänen, Lars Rönnblom, Lindsey A Criswell, Chaim O Jacob, Kathy L Sivils, Betty P Tsao, Laura E Schanberg, Timothy W Behrens, Earl D Silverman, Marta E Alarcón-Riquelme, Robert P Kimberly, John B Harley, Edward K Wakeland, Robert R Graham, Patrick M Gaffney, Timothy J Vyse
Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10(-8)), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect...
July 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28711143/genomics-of-systemic-lupus-erythematosus-insights-gained-by-studying-monogenic-young-onset-systemic-lupus-erythematosus
#2
REVIEW
Linda T Hiraki, Earl D Silverman
Systemic lupus erythematosus (SLE) is a systemic, autoimmune, multisystem disease with a heterogeneous clinical phenotype. Genome-wide association studies have identified multiple susceptibility loci, but these explain a fraction of the estimated heritability. This is partly because within the broad spectrum of SLE are monogenic diseases that tend to cluster in patients with young age of onset, and in families. This article highlights insights into the pathogenesis of SLE provided by these monogenic diseases...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28696253/the-ox40-ox40-ligand-pathway-promotes-pathogenic-th-cell-responses-plasmablast-accumulation-and-lupus-nephritis-in-nzb-w-f1-mice
#3
Jonathan Sitrin, Eric Suto, Arthur Wuster, Jeffrey Eastham-Anderson, Jeong M Kim, Cary D Austin, Wyne P Lee, Timothy W Behrens
Ox40 ligand (Ox40L) locus genetic variants are associated with the risk for systemic lupus erythematosus (SLE); however, it is unclear how Ox40L contributes to SLE pathogenesis. In this study, we evaluated the contribution of Ox40L and its cognate receptor, Ox40, using in vivo agonist and antagonist approaches in the NZB × NZW (NZB/W) F1 mouse model of SLE. Ox40 was highly expressed on several CD4 Th cell subsets in the spleen and kidney of diseased mice, and expression correlated with disease severity. Treatment of aged NZB/W F1 mice with agonist anti-Ox40 mAbs potently exacerbated renal disease, which was accompanied by activation of kidney-infiltrating T cells and cytokine production...
July 10, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28692793/rare-x-chromosome-abnormalities-in-systemic-lupus-erythematosus-and-sj%C3%A3-gren-s-syndrome
#4
Rohan Sharma, Valerie M Harris, Joshua Cavett, Biji T Kurien, Ke Liu, Kristi A Koelsch, Anum Fayaaz, Kaustubh S Chaudhari, Lida Radfar, David Lewis, Donald U Stone, C Erick Kaufman, Shibo Li, Barbara Segal, Daniel J Wallace, Michael H Weisman, Swamy Venuturupalli, Jennifer A Kelly, Bernardo Pons-Estel, Roland Jonsson, Xianglan Lu, Jacques-Eric Gottenberg, Juan-Manuel Anaya, Deborah S Cunninghame-Graham, Andrew J W Huang, Michael T Brennan, Pamela Hughes, Ilias Alevizos, Corinne Miceli-Richard, Edward C Keystone, Vivian P Bykerk, Gideon Hirschfield, Gang Xie, Gunnel Nordmark, Sara Magnusson Bucher, Per Eriksson, Roald Omdal, Nelson L Rhodus, Maureen Rischmueller, Michael Rohrer, Marie Wahren-Herlenius, Torsten Witte, Marta Alarcon-Riquelme, Xavier Mariette, Christopher J Lessard, John B Harley, Wan-Fai Ng, Astrid Rasmussen, Kathy L Sivils, R Hal Scofield
BACKGROUND: Sjögren's syndrome and systemic lupus erythematosus (SLE) are related by clinical and serological manifestations as well as genetic risks. Both diseases are more commonly found in women compared to men at a ratio of about 10 to 1. Common X chromosome aneuploidies, 47,XXY and 47,XXX, are enriched among men and women, respectively, in either disease suggesting a dose effect on the X chromosome. METHODS: We examined cohorts of Sjögren's syndrome or SLE patients with intensity plots of X chromosome single nucleotide polymorphism (SNP) alleles along with karyotype of selected subjects...
July 10, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28670251/genetic-similarities-and-differences-between-discoid-and-systemic-lupus-erythematosus-patients-within-the-polish-population
#5
Katarzyna Skonieczna, Rafał Czajkowski, Sebastian Kaszewski, Mariusz Gawrych, Aneta Jakubowska, Tomasz Grzybowski
INTRODUCTION: Many studies have shown that some SNPs might be a risk factor for systemic lupus erythematosus (SLE), but little is known about potential susceptibility loci of the skin types of the disease. Discoid lupus erythematosus (DLE) is the most common form of the cutaneous lupus erythematosus. Nevertheless, a genetic contribution to DLE is not fully recognized. AIM: We aimed to analyze three SNPs located in the STAT4 (rs7574865), ITGAM (rs1143679) and TNXB (rs1150754) genes in both DLE and SLE patients from Poland...
June 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28623091/dna-repair-and-systemic-lupus-erythematosus
#6
REVIEW
Rithy Meas, Matthew J Burak, Joann B Sweasy
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with no known cure that affects at least five million people worldwide. Monozygotic twin concordance and familial aggregation studies strongly suggest that lupus results from genetic predisposition along with environmental exposures including UV light. The majority of the common risk alleles associated with genetic predisposition to SLE map to genes associated with the immune system. However, evidence is emerging that implicates a role for aberrant DNA repair in the development of lupus...
June 9, 2017: DNA Repair
https://www.readbyqxmd.com/read/28623084/pathogenesis-of-human-systemic-lupus-erythematosus-a-cellular-perspective
#7
REVIEW
Vaishali R Moulton, Abel Suarez-Fueyo, Esra Meidan, Hao Li, Masayuki Mizui, George C Tsokos
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting multiple organs. A complex interaction of genetics, environment, and hormones leads to immune dysregulation and breakdown of tolerance to self-antigens, resulting in autoantibody production, inflammation, and destruction of end-organs. Emerging evidence on the role of these factors has increased our knowledge of this complex disease, guiding therapeutic strategies and identifying putative biomarkers. Recent findings include the characterization of genetic/epigenetic factors linked to SLE, as well as cellular effectors...
July 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28619073/genome-wide-pathway-analysis-identifies-vegf-pathway-association-with-oral-ulceration-in-systemic-lupus-erythematosus
#8
Adrià Aterido, Antonio Julià, Patricia Carreira, Ricardo Blanco, José Javier López-Longo, José Javier Pérez Venegas, Àlex Olivé, José Luís Andreu, Maria Ángeles Aguirre-Zamorano, Paloma Vela, Joan M Nolla, José Luís Marenco-de la Fuente, Antonio Zea, José María Pego, Mercedes Freire, Elvira Díez, María López-Lasanta, Mireia López-Corbeto, Núria Palau, Raül Tortosa, Josep Lluís Gelpí, Devin Absher, Richard M Myers, Antonio Fernández-Nebro, Sara Marsal
BACKGROUND: Systemic lupus erythematosus (SLE) is a genetically complex rheumatic disease characterized by heterogeneous clinical manifestations of unknown etiology. Recent studies have suggested the existence of a genetic basis for SLE heterogeneity. The objective of the present study was to identify new genetic variation associated with the clinically relevant phenotypes in SLE. METHODS: A two-stage pathway-based approach was used to identify the genetic variation associated with the main clinical phenotypes in SLE...
June 15, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28606963/a-single-nucleotide-polymorphism-in-the-ncf1-gene-leading-to-reduced-oxidative-burst-is-associated-with-systemic-lupus-erythematosus
#9
Lina M Olsson, Åsa C Johansson, Birgitta Gullstrand, Andreas Jönsen, Saedis Saevarsdottir, Lars Rönnblom, Dag Leonard, Jonas Wetterö, Christopher Sjöwall, Elisabet Svenungsson, Iva Gunnarsson, Anders A Bengtsson, Rikard Holmdahl
OBJECTIVES: Ncf1 polymorphisms leading to low production of reactive oxygen species (ROS) are strongly associated with autoimmune diseases in animal models. The human NCF1 gene is very complex with both functional and non-functional gene copies and genotyping requires assays specific for functional NCF1 genes. We aimed at investigating association and function of the missense single nucleotide polymorphism (SNP), rs201802880 (here denoted NCF1-339) in NCF1 with systemic lupus erythematosus (SLE)...
June 12, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28606749/cardiovascular-disease-in-systemic-lupus-erythematosus-a-comprehensive-update
#10
REVIEW
Mayra Giannelou, Clio P Mavragani
Heightened rates of both cardiovascular (CV) events and subclinical atherosclerosis, documented by imaging and vascular function techniques are well established in systemic lupus erythematosus (SLE). While traditional CV factors such as smoking, dyslipidemia, diabetes mellitus (DM), hypertension, central obesity and hyperhomocysteinemia have been reported to be prevalent in lupus patients, they do not fully explain the high rates of ischemic events so far reported, implying that other factors inherent to disease itself could account for the enhanced risk, including disease duration, activity and chronicity, psychosocial factors, medications, genetic variants and altered immunological mechanisms...
June 9, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28567557/c-reactive-protein-1444ct-rs1130864-genetic-polymorphism-is-associated-with-the-susceptibility-to-systemic-lupus-erythematosus-and-c-reactive-protein-levels
#11
Francieli Delongui, Marcell Allyson Batisti Lozovoy, Tatiana Mayiumi Veiga Iriyoda, Neide Tomimura Costa, Nicole Perugini Stadtlober, Daniela Frizon Alfieri, Tamires Flauzino, Isaias Dichi, Andréa Name Colado Simão, Edna Maria Vissoci Reiche
The T rare allele of +1444CT (rs1130864) polymorphism of C-reactive protein (CRP) has been associated with increased CRP levels in some inflammatory conditions, but its role on systemic lupus erythematosus (SLE) susceptibility and on CRP levels in SLE patients remains uncertain. The objective of the study was to evaluate the association between the rs1130864 CRP polymorphism with SLE susceptibility, disease activity, and CRP levels in SLE Brazilian patients. The study enrolled 176 SLE patients and 137 controls...
June 1, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28544690/deficiency-of-complement-1r-subcomponent-in-early-onset-systemic-lupus-erythematosus-the-role-of-disease-modifying-alleles-in-a-monogenic-disease
#12
Erkan Demirkaya, Qing Zhou, Carolyne K Smith, Michael J Ombrello, Natalie Deuitch, Wanxia L Tsai, Patrycja Hoffmann, Elaine F Remmers, Masaki Takeuchi, Yong Hwan Park, JaeJin Chae, Kenan Barut, Dogan Simsek, Amra Adrovic, Sezgin Sahin, Salim Caliskan, Settara C Chandrasekharappa, Sarfaraz A Hasni, Amanda K Ombrello, Massimo Gadina, Daniel L Kastner, Mariana J Kaplan, Ozgur Kasapcopur, Ivona Aksentijevich
OBJECTIVE: To identify a genetic cause of early-onset systemic lupus erythematosus (SLE) in a large consanguineous family from Turkey and to study the mechanisms of the disease. METHODS: We performed whole-exome sequencing and single-nucleotide polymorphism array genotyping in family members with and without SLE. Protein and gene expression, cytokine profile, neutrophil extracellular trap (NET) formation, and presence of low-density granulocytes were evaluated in patient primary cells and serum samples...
May 23, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28542701/two-separate-effects-contribute-to-regulatory-t-cell-defect-in-sle-patients-and-their-unaffected-relatives
#13
Nuno Costa, Oriana Marques, Sandra I Godinho, Cláudia Carvalho, Barbara Leal, Ana M Figueiredo, Carlos Vasconcelos, António Marinho, Maria F Moraes-Fontes, António Gomes da Costa, Cristina Ponte, Raquel Campanilho-Marques, Telma Cóias, Ana R Martins, João F Viana, Margarida Lima, Berta Martins, Constantin Fesel
FOXP3(+) regulatory T-cells (Tregs) are functionally deficient in Systemic Lupus Erythematosus (SLE), characterized by reduced surface CD25 (the IL-2 receptor alpha chain). Low-dose IL-2 therapy is a promising current approach to correct this defect. To elucidate the origins of the SLE Treg phenotype, we studied its role through developmentally defined Treg subsets in 45 SLE patients, 103 SLE-unaffected first-degree relatives and 61 unrelated healthy control subjects, and genetic association with the CD25-encoding IL2RA locus...
May 24, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28537986/an-update-on-lupus-animal-models
#14
Wei Li, Anton A Titov, Laurence Morel
PURPOSE OF REVIEW: The complexity and heterogeneity of the clinical presentation in systemic lupus of erythematosus (SLE), combined to the inherent limitations of clinical research, have made it difficult to investigate the cause of this disease directly in patients. Various mouse models have been developed to dissect the cellular and genetic mechanisms of SLE, as well as to identify therapeutic targets and to screen treatments. The purpose of this review is to summarize the major spontaneous and induced mouse models of SLE and to provide an update on the major advances they have contributed to the field...
May 19, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28515361/lupus-and-proliferative-nephritis-are-pad4-independent-in-murine-models
#15
Rachael A Gordon, Jan M Herter, Florencia Rosetti, Allison M Campbell, Hiroshi Nishi, Michael Kashgarian, Sheldon I Bastacky, Anthony Marinov, Kevin M Nickerson, Tanya N Mayadas, Mark J Shlomchik
Though recent reports suggest that neutrophil extracellular traps (NETs) are a source of antigenic nucleic acids in systemic lupus erythematosus (SLE), we recently showed that inhibition of NETs by targeting the NADPH oxidase complex via cytochrome b-245, β polypeptide (cybb) deletion exacerbated disease in the MRL.Faslpr lupus mouse model. While these data challenge the paradigm that NETs promote lupus, it is conceivable that global regulatory properties of cybb and cybb-independent NETs confound these findings...
May 18, 2017: JCI Insight
https://www.readbyqxmd.com/read/28509669/genetic-advances-in-systemic-lupus-erythematosus-an-update
#16
Lingyan Chen, David L Morris, Timothy J Vyse
PURPOSE OF REVIEW: More than 80 susceptibility loci are now reported to show robust genetic association with systemic lupus erythematosus (SLE). The differential functional effects of the risk alleles for the majority of these loci remain to be defined. Here, we review current SLE association findings and the recent progress in the annotation of noncoding regions of the human genome as well as the new technologies and statistical methods that can be applied to further the understanding of SLE genetics...
May 15, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28500565/dysregulated-lymphoid-cell-populations-in-mouse-models-of-systemic-lupus-erythematosus
#17
REVIEW
Aurélie De Groof, Patrice Hémon, Olivier Mignen, Jacques-Olivier Pers, Edward K Wakeland, Yves Renaudineau, Bernard R Lauwerys
Biases in the distribution and phenotype of T, B, and antigen-presenting cell populations are strongly connected to mechanisms of disease development in mouse models of systemic lupus erythematosus (SLE). Here, we describe longitudinal changes in lymphoid and antigen-presenting cell subsets in bone marrow, blood and spleen from two lupus-prone strains (MRL/lpr and B6.Sle1.Sle2.Sle3 tri-congenic mice), and how they integrate in our present understanding of the pathogenesis of the disease. In particular, we focus on (autoreactive) T cell activation patterns in lupus-prone mice...
May 13, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28471259/epidemiology-of-systemic-lupus-erythematosus
#18
Guillermo J Pons-Estel, Manuel F Ugarte-Gil, Graciela S Alarcón
Systemic lupus erythematosus (SLE) is a disease distributed worldwide, which occurs in both genders, and across racial/ethnic and age groups; however, higher rates are observed in adults, in women and in non-Caucasians. Genetic, environmental, sociodemographic and methodological issues are responsible not only for these differences but for the variable course and outcome of the disease. Non-Caucasians have a more severe disease with a higher risk for early mortality and damage accrual. Males also have a more severe disease; however, a negative impact of male gender on lupus outcomes has not been firmly established...
May 16, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28465078/joint-involvement-in-systemic-lupus-erythematosus-from-pathogenesis-to-clinical-assessment
#19
REVIEW
Fulvia Ceccarelli, Carlo Perricone, Enrica Cipriano, Laura Massaro, Francesco Natalucci, Giuseppe Capalbo, Ilaria Leccese, Dimitrios Bogdanos, Francesca Romana Spinelli, Cristiano Alessandri, Guido Valesini, Fabrizio Conti
OBJECTIVE: In the present review, the different phenotypes, clinimetric and imaging tools able to assess joint involvement in patients affected by Systemic Lupus Erythematosus (SLE) have been described and summarized. Furthermore, the current knowledge about the pathogenic mechanism and the potential biomarkers of this feature is reported. METHODS: A literature search was done in PubMed, accessed via the National Library of Medicine PubMed interface (http://www...
April 4, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28445677/overexpression-of-the-cytokine-baff-and-autoimmunity-risk
#20
Maristella Steri, Valeria Orrù, M Laura Idda, Maristella Pitzalis, Mauro Pala, Ilenia Zara, Carlo Sidore, Valeria Faà, Matteo Floris, Manila Deiana, Isadora Asunis, Eleonora Porcu, Antonella Mulas, Maria G Piras, Monia Lobina, Sandra Lai, Mara Marongiu, Valentina Serra, Michele Marongiu, Gabriella Sole, Fabio Busonero, Andrea Maschio, Roberto Cusano, Gianmauro Cuccuru, Francesca Deidda, Fausto Poddie, Gabriele Farina, Mariano Dei, Francesca Virdis, Stefania Olla, Maria A Satta, Mario Pani, Alessandro Delitala, Eleonora Cocco, Jessica Frau, Giancarlo Coghe, Lorena Lorefice, Giuseppe Fenu, Paola Ferrigno, Maria Ban, Nadia Barizzone, Maurizio Leone, Franca R Guerini, Matteo Piga, Davide Firinu, Ingrid Kockum, Izaura Lima Bomfim, Tomas Olsson, Lars Alfredsson, Ana Suarez, Patricia E Carreira, Maria J Castillo-Palma, Joseph H Marcus, Mauro Congia, Andrea Angius, Maurizio Melis, Antonio Gonzalez, Marta E Alarcón Riquelme, Berta M da Silva, Maurizio Marchini, Maria G Danieli, Stefano Del Giacco, Alessandro Mathieu, Antonello Pani, Stephen B Montgomery, Giulio Rosati, Jan Hillert, Stephen Sawcer, Sandra D'Alfonso, John A Todd, John Novembre, Gonçalo R Abecasis, Michael B Whalen, Maria G Marrosu, Alessandra Meloni, Serena Sanna, Myriam Gorospe, David Schlessinger, Edoardo Fiorillo, Magdalena Zoledziewska, Francesco Cucca
BACKGROUND: Genomewide association studies of autoimmune diseases have mapped hundreds of susceptibility regions in the genome. However, only for a few association signals has the causal gene been identified, and for even fewer have the causal variant and underlying mechanism been defined. Coincident associations of DNA variants affecting both the risk of autoimmune disease and quantitative immune variables provide an informative route to explore disease mechanisms and drug-targetable pathways...
April 27, 2017: New England Journal of Medicine
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