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SLE genetics

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https://www.readbyqxmd.com/read/28818832/b-cell-ox40l-supports-t-follicular-helper-cell-development-and-contributes-to-sle-pathogenesis
#1
Andrea Cortini, Ursula Ellinghaus, Talat H Malik, Deborah S Cunningham Grahman, Marina Botto, Timothy James Vyse
OBJECTIVES: TNFSF4 (encodes OX40L) is a susceptibility locus for systemic lupus erythematosus (SLE). Risk alleles increase TNFSF4 expression in cell lines, but the mechanism linking this effect to disease is unclear, and the OX40L-expressing cell types mediating the risk are not clearly established. Blockade of OX40L has been demonstrated to reduce disease severity in several models of autoimmunity, but not in SLE. We sought to investigate its potential therapeutic role in lupus. METHODS: We used a conditional knockout mouse system to investigate the function of OX40L on B and T lymphocytes in systemic autoimmunity...
August 17, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28801578/basophils-contribute-to-pristane-induced-lupus-like-nephritis-model
#2
Barbara Dema, Yasmine Lamri, Christophe Pellefigues, Emeline Pacreau, Fanny Saidoune, Caroline Bidault, Hajime Karasuyama, Karim Sacré, Eric Daugas, Nicolas Charles
Lupus nephritis (LN), one of the most severe outcomes of systemic lupus erythematosus (SLE), is initiated by glomerular deposition of immune-complexes leading to an inflammatory response and kidney failure. Autoantibodies to nuclear antigens and autoreactive B and T cells are central in SLE pathogenesis. Immune mechanisms amplifying this autoantibody production drive flares of the disease. We previously showed that basophils were contributing to LN development in a spontaneous lupus-like mouse model (constitutive Lyn (-/-) mice) and in SLE subjects through their activation and migration to secondary lymphoid organs (SLOs) where they amplify autoantibody production...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28799838/vitamin-d-receptor-gene-foki-polymorphism-in-egyptian-children-and-adolescents-with-sle-a-case-control-study
#3
A A Imam, H E Ibrahim, M A A Farghaly, U M Alkholy, H H Gawish, N Abdalmonem, A M Sherif, Y F Ali, M E Hamed, N M Waked, M M Fathy, A M Khalil, M A Noah, M S Hegab, B R Ibrahim, R M Nabil, L A Fattah
Background Childhood-onset systemic lupus erythematosus (cSLE) is a lifelong autoimmune disorder. The vitamin D receptor (VDR) gene is a potential candidate gene for cSLE susceptibility. In this study, we aimed to investigate the FokI polymorphism in the VDR gene in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a genetic marker for cSLE susceptibility or disease activity and we also measured the serum level of 25-hydroxyvitamin D [25(OH) D] to assess its relation to such polymorphism...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28795307/sex-symptom-severity-and-quality-of-life-in-rheumatology
#4
REVIEW
Marco Krasselt, Christoph Baerwald
Inflammatory rheumatic diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) show a striking female predominance ranging from 3:1 in RA up to 9:1 in SLE. The background for those gender bias is not fully understood yet, but seems to be the result of a complex interaction between sex hormones, (epi-)genetics, and possibly even the composition of gut microbiota. Moreover, time of disease onset, the clinical phenotype including co-morbidities as well as the course of the diseases during life differ between genders...
August 9, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28763101/relevant-genetic-polymorphisms-and-kidney-expression-of-tlr5-and-tlr9-in-lupus-nephritis
#5
Nesrine Elloumi, Raouia Fakhfakh, Olfa Abida, Lobna Ayadi, Sameh Marzouk, Hend Hachicha, Mohamed Fourati, Zouhir Bahloul, Mohamed Nabil Mhiri, Khawla Kammoun, Hatem Masmoudi
Toll-like receptor (TLR) genetic polymorphisms may modify their expression causing inflammatory disorders and influencing both susceptibility and severity of lupus erythematosus. We aim to determine whether TLR5 and TLR9 genes polymorphisms are implicated in the susceptibility to systemic lupus erythematosus (SLE) and lupus nephritis (LN) and to evaluate their expressions and distributions in renal LN patients' biopsies. The frequencies of 2 SNP in TLR9 gene and 1 in TLR5 gene was examined in 106 SLE patients (among them 37 LN patients) and in 200 matched controls by PCR-RFLP analysis...
August 1, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28755788/concordance-of-autoimmune-disease-in-a-nationwide-danish-systemic-lupus-erythematosus-twin-cohort
#6
Constance Jensina Ulff-Møller, Anders Jørgen Svendsen, Louise Nørgaard Viemose, Søren Jacobsen
OBJECTIVE: To determine the concordance of systemic lupus erythematosus (SLE) and co-aggregating autoimmune diseases among Danish twins. METHODS: SLE-affected twins were ascertained by record linkage between the National Patient Register (NPR) and the Danish Twin Registry (DTR). Registered SLE codes were validated through medical chart review and information from the treating physicians. Twin pairs with at least one chart-validated SLE proband were invited to participate in a personal interview and clinical validation of the SLE diagnoses...
June 23, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28754791/association-analysis-of-the-mhc-in-lupus-nephritis
#7
Ricong Xu, Qibin Li, Rongjun Liu, Juan Shen, Ming Li, Minghui Zhao, Meng Wang, Qijun Liao, Haiping Mao, Zhijian Li, Na Zhou, Peiran Yin, Yue Li, Xueqing Tang, Tian Wu, Zhong Zhong, Yan Wang, Zhen Ai, Ou Wang, Nan Chen, Xiaoqin Yang, Junbin Fang, Ping Fu, Jieruo Gu, Kun Ye, Jian Chen, Lie Dai, Huafeng Liu, Zhangsuo Liu, Yunhua Liao, Jianxin Wan, Guohua Ding, Jinghong Zhao, Hao Zhang, Shuxia Fu, Liangdan Sun, Xuejun Zhang, Huanming Yang, Jian Wang, Jun Wang, Jianjun Liu, Yingrui Li, Xueqing Yu
Lupus nephritis (LN) is one of the most prevalent and serious complications of SLE, with significant effects on patient and renal survival. Although a large number of genetic variants associated with SLE have been identified, biomarkers that correlate with LN are extremely limited. In this study, we performed a comprehensive sequencing analysis of the whole MHC region in 1331 patients with LN and 1296 healthy controls and validated the independent associations in another 950 patients with LN and 1000 controls...
July 28, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28752494/epigenetics-in-sle
#8
REVIEW
Christian Michael Hedrich
PURPOSE OF REVIEW: Systemic lupus erythematosus is a severe autoimmune/inflammatory condition of unknown pathophysiology. Though genetic predisposition is essential for disease expression, risk alleles in single genes are usually insufficient to confer disease. Epigenetic dysregulation has been suggested as the missing link between genetic risk and the development of clinically evident disease. RECENT FINDINGS: Over the past decade, epigenetic events moved into the focus of research targeting the molecular pathophysiology of SLE...
September 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28741130/epigenetic-involvement-in-etiopathogenesis-and-implications-in-treatment-of-systemic-lupus-erythematous
#9
REVIEW
Arron Munggela Foma, Saeed Aslani, Jafar Karami, Ahmadreza Jamshidi, Mahdi Mahmoudi
BACKGROUND: Recent researches in the field of genetics have extended our knowledge through the discovery of genetic factors associated with autoimmune diseases (AID). Genetics by itself, however, cannot elucidate all the uncertainties encountered in the etiopathology of AID. On the other hand, incomplete harmony in the prevalence of AID in identical twins suggests that non-genetic factors may play an important role in determining the disease susceptibility. Besides, epigenetics, which is defined by changes in gene expression without a corresponding change in the DNA sequences, has come in to provide new awareness in the disease etiopathology by bridging the genetic and epigenetic factors...
July 24, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28740209/novel-risk-genes-for-systemic-lupus-erythematosus-predicted-by-random-forest-classification
#10
Jonas Carlsson Almlöf, Andrei Alexsson, Juliana Imgenberg-Kreuz, Lina Sylwan, Christofer Bäcklin, Dag Leonard, Gunnel Nordmark, Karolina Tandre, Maija-Leena Eloranta, Leonid Padyukov, Christine Bengtsson, Andreas Jönsen, Solbritt Rantapää Dahlqvist, Christopher Sjöwall, Anders A Bengtsson, Iva Gunnarsson, Elisabet Svenungsson, Lars Rönnblom, Johanna K Sandling, Ann-Christine Syvänen
Genome-wide association studies have identified risk loci for SLE, but a large proportion of the genetic contribution to SLE still remains unexplained. To detect novel risk genes, and to predict an individual's SLE risk we designed a random forest classifier using SNP genotype data generated on the "Immunochip" from 1,160 patients with SLE and 2,711 controls. Using gene importance scores defined by the random forest classifier, we identified 15 potential novel risk genes for SLE. Of them 12 are associated with other autoimmune diseases than SLE, whereas three genes (ZNF804A, CDK1, and MANF) have not previously been associated with autoimmunity...
July 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28736280/the-serine-threonine-protein-phosphatase-2a-controls-autoimmunity
#11
Amir Sharabi, Isaac R Kasper, George C Tsokos
Protein phosphatase 2A (PP2A) is the first Ser/Thr phosphatase recognized to contribute to human and murine lupus immunopathology. PP2A expression in SLE is controlled both epigenetically and genetically, and it is increased in patients with SLE, which contributes to decreased IL-2 production, decreased CD3ζ and increased FcRγ expression on the surface of T cells, increased CREMα expression, hypomethylation of genes associated with SLE pathogenesis, and increased IL-17 production. B regulatory subunit of PP2A regulates IL-2 deprivation-induced T cell death and is decreased in SLE patients...
July 20, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28714469/transancestral-mapping-and-genetic-load-in-systemic-lupus-erythematosus
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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...
August 2017: DNA Repair
https://www.readbyqxmd.com/read/28623084/pathogenesis-of-human-systemic-lupus-erythematosus-a-cellular-perspective
#18
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
#19
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
#20
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
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