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Genetic lupus

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https://www.readbyqxmd.com/read/28623091/dna-repair-and-systemic-lupus-erythematosus
#1
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
#2
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...
June 13, 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
#3
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/28615729/systemic-lupus-erytheumatosus-baff-emerges-from-the-genetic-shadows
#4
William Stohl
No abstract text is available yet for this article.
June 15, 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28611770/relevance-of-cd6-mediated-interactions-in-the-regulation-of-peripheral-t-cell-responses-and-tolerance
#5
Marta Consuegra-Fernández, Mario Martínez-Florensa, Fernando Aranda, José de Salort, Noelia Armiger-Borràs, Teresa Lozano, Noelia Casares, Juan José Lasarte, Pablo Engel, Francisco Lozano
The CD6 lymphocyte receptor has been involved in the pathophysiology of different autoimmune disorders and is now considered a feasible target for their treatment. In vitro data show the relevance of CD6 in the stabilization of adhesive contacts between T-cell and antigen-presenting cells, and the modulation of T-cell receptor signals. However, the in vivo consequences of such a function are yet undisclosed due to the lack of suitable genetically modified animal models. Here, the in vitro and in vivo challenge of CD6-deficient (CD6(-/-)) cells with allogeneic cells was used as an approach to explore the role of CD6 in immune responses under relative physiological stimulatory conditions...
2017: Frontiers in Immunology
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
#6
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
#7
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/28585599/discordant-disease-expression-of-neonatal-lupus-erythematosus-in-twins
#8
Faiza Mustafa, Yawar Najam, Mohammad Tauqeer Akbar, Tahir Aziz Ahmed
Neonatal lupus erythematosus is an autoimmune disease resulting from the trans-placental passage of maternal anti-SSA/Ro, anti-SSB/La, and less frequently anti-RNP antibodies to the foetus. At the time of diagnosis 50% of mothers are asymptomatic. Neonatal manifestations of this multisystem disease may include congenital heart block, cutaneous lesions and haematological abnormalities. We present the case of congenital neonatal lupus erythematosus in non-identical twins, showing variability in clinical manifestation of this disease,despite receiving the same level of antibodies from the mother...
June 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28569263/the-genetics-revolution-in-rheumatology-large-scale-genomic-arrays-and-genetic-mapping
#9
REVIEW
Stephen Eyre, Gisela Orozco, Jane Worthington
Susceptibility to rheumatic diseases, such as osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, systemic lupus erythematosus, juvenile idiopathic arthritis and psoriatic arthritis, includes a large genetic component. Understanding how an individual's genetic background influences disease onset and outcome can lead to a better understanding of disease biology, improved diagnosis and treatment, and, ultimately, to disease prevention or cure. The past decade has seen great progress in the identification of genetic variants that influence the risk of rheumatic diseases...
June 1, 2017: Nature Reviews. Rheumatology
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
#10
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/28555834/effects-of-breeder-turnover-and-harvest-on-group-composition-and-recruitment-in-a-social-carnivore
#11
David E Ausband, Michael S Mitchell, Lisette P Waits
1.Breeder turnover can influence population growth in social carnivores through changes to group size, composition, and recruitment. 2.Studies that possess detailed group composition data that can provide insights about the effects of breeder turnover on groups have generally been conducted on species that are not subject to recurrent annual human harvest. We wanted to know how breeder turnover affects group composition and how harvest, in turn, affects breeder turnover in cooperatively breeding gray wolves (Canis lupus Linnaeus 1758)...
May 27, 2017: Journal of Animal Ecology
https://www.readbyqxmd.com/read/28549194/disentangling-timing-of-admixture-patterns-of-introgression-and-phenotypic-indicators-in-a-hybridizing-wolf-population
#12
M Galaverni, R Caniglia, L Pagani, E Fabbri, A Boattini, E Randi
Hybridization is a natural or anthropogenic process that can deeply affect the genetic make-up of populations, possibly decreasing individual fitness but sometimes favouring local adaptations. The population of Italian wolves (Canis lupus), after protracted demographic declines and isolation, is currently expanding in anthropic areas, with documented cases of hybridization with stray domestic dogs. However, identifying admixture patterns in deeply introgressed populations is far from trivial. In this study, we used a panel of 170,000 SNPs analysed with multivariate, Bayesian and local ancestry reconstruction methods to identify hybrids, estimate their ancestry proportions and timing since admixture...
May 26, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28544690/deficiency-of-complement-1r-subcomponent-in-early-onset-sle-role-for-disease-modifying-alleles-in-a-monogenic-disease
#13
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 disease. METHODS: We performed whole exome sequencing (WES) and SNP array genotyping in affected and unaffected family members. Protein studies, gene expression, cytokine profiling, neutrophil extracellular trap 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
#14
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
#15
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/28527290/association-of-polymorphic-variants-of-ptpn22-tnf-and-vdr-genes-in-children-with-lupus-nephritis-a-study-in-colombian-family-triads
#16
Gloria Garavito, Eduardo Egea, Luis Fang, Clara Malagón, Carlos Olmos, Luz González, Pilar Guarnizo, Gustavo Aroca, Guillermo López, Antonio Iglesias
INTRODUCTION: Systemic lupus erythematosus is an autoimmune disease in which the severity varies according to race, sex and age of onset. This variation is also observed in the genetic markers associated with the disease, including PTPN22, VDR and TNF genes. The genetic stratification in different populations worldwide can influence the variability. OBJECTIVE: To analyze the heritability of PTPN22, VDR and TNF genetic variants and their association with pediatric lupus nephritis in Colombian families...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28526137/cellular-and-molecular-mechanisms-of-autoimmunity-and-lupus-nephritis
#17
S K Devarapu, G Lorenz, O P Kulkarni, H-J Anders, S R Mulay
Autoimmunity involves immune responses directed against self, which are a result of defective self/foreign distinction of the immune system, leading to proliferation of self-reactive lymphocytes, and is characterized by systemic, as well as tissue-specific, inflammation. Numerous mechanisms operate to ensure the immune tolerance to self-antigens. However, monogenetic defects or genetic variants that weaken immune tolerance render susceptibility to the loss of immune tolerance, which is further triggered by environmental factors...
2017: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/28515361/lupus-and-proliferative-nephritis-are-pad4-independent-in-murine-models
#18
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
#19
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
#20
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
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