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SLE genetics

Mindy S Lo
The pathophysiology of systemic lupus erythematosus (SLE) has been intensely studied but remains incompletely defined. Currently, multiple mechanisms are known to contribute to the development of SLE. These include inadequate clearance of apoptotic debris, aberrant presentation of self nucleic antigens, loss of tolerance, and inappropriate activation of T and B cells. Genetic, hormonal, and environmental influences are also known to play a role. The study of lupus in children, in whom there is presumed to be greater genetic influence, has led to new understandings that are applicable to SLE pathophysiology as a whole...
2018: Frontiers in Immunology
Hend Hachicha, Nadia Mahfoudh, Hajer Fourati, Nesrine Elloumi, Sameh Marzouk, Sawsan Feki, Raouia Fakhfakh, Faten Frikha, Abir Ayadi, Amira Maatoug, Lilia Gaddour, Feiza Hakim, Zouheir Bahloul, Hafedh Makni, Hatem Masmoudi, Arwa Kammoun
BACKGROUND AND OBJECTIVES: Short tandem repeats (STR) are usually used as informative polymorphic markers for genetic mapping and for disease susceptibility analysis. The involvement of these microsatellite markers localized in the MHC region was reported in many auto-immune diseases. In this study we analyzed for the first time eight polymorphisms of microsatellite loci at the HLA region: D6S291, D6S273, TNFa, b and c, MICA, D6S265 and D6S276, in Tunisian systemic lupus erythematosus (SLE) patients...
2018: PloS One
Zubin Patel, Xiaoming Lu, Daniel Miller, Carmy R Forney, Joshua Lee, Arthur Lynch, Connor Schroeder, Lois Parks, Albert F Magnusen, Xiaoting Chen, Mario Pujato, Avery Maddox, Erin E Zoller, Bahram Namjou, Hermine I Brunner, Michael Henrickson, Jennifer L Huggins, Adrienne H Williams, Julie T Ziegler, Mary E Comeau, Miranda C Marion, Stuart B Glenn, Adam Adler, Nan Shen, Swapan K Nath, Anne M Stevens, Barry I Freedman, Bernardo A Pons-Estel, Betty P Tsao, Chaim O Jacob, Diane L Kamen, Elizabeth E Brown, Gary S Gilkeson, Graciela S Alarcón, Javier Martin, John D Reveille, Juan-Manuel Anaya, Judith A James, Kathy L Sivils, Lindsey A Criswell, Luis M Vilá, Michelle Petri, R Hal Scofield, Robert P Kimberly, Jeffrey C Edberg, Rosalind Ramsey-Goldman, So-Young Bang, Hye-Soon Lee, Sang-Cheol Bae, Susan A Boackle, Deborah Cunninghame Graham, Timothy J Vyse, Joan T Merrill, Timothy B Niewold, Hannah C Ainsworth, Earl D Silverman, Michael H Weisman, Daniel J Wallace, Prithvi Raj, Joel M Guthridge, Patrick M Gaffney, Jennifer A Kelly, Marta E Alarcón-Riquelme, Carl D Langefeld, Edward K Wakeland, Kenneth M Kaufman, Matthew T Weirauch, John B Harley, Leah C Kottyan
Systemic Lupus Erythematosus (SLE or lupus) (OMIM: 152700) is a chronic autoimmune disease with debilitating inflammation that affects multiple organ systems. The STAT1-STAT4 locus is one of the first and most highly-replicated genetic loci associated with lupus risk. We performed a fine-mapping study to identify plausible causal variants within the STAT1-STAT4 locus associated with increased lupus disease risk. Using complementary frequentist and Bayesian approaches in trans-ancestral Discovery and Replication cohorts, we found one variant whose association with lupus risk is supported across ancestries in both the Discovery and Replication cohorts: rs11889341...
April 18, 2018: Human Molecular Genetics
Ronald F van Vollenhoven
The autoimmune rheumatological diseases rheumatoid arthritis (RA), spondyloarthritis (SpA) and systemic lupus erythematosus (SLE) are treated with conventional immunosuppressive agents and with modern biological immunomodulators. The latter group of medications have brought about a major change in our ability to control RA and SpA, with more modest results for SLE. The biologicals are very specific in their mechanisms of action, targeting one specific cytokine or one particular cellular marker. Because of this, their efficacy can readily be linked to a single immunomodulatory mechanism...
June 16, 2018: Journal of Internal Medicine
Man Zhang, Su-Su Li, Qiao-Mei Xie, Jian-Hua Xu, Xiu-Xiu Sun, Fa-Ming Pan, Sheng-Qian Xu, Sheng-Xiu Liu, Jin-Hui Tao, Shuang Liu, Jing Cai, Pei-Ling Chen, Long Qian, Chun-Huai Wang, Chun-Mei Liang, Hai-Liang Huang, Hai-Feng Pan, Hong Su, Yan-Feng Zou
Although the current glucocorticoids (GCs) treatment for systemic lupus erythematosus (SLE) is effective to a certain extent, the difference in therapeutic effect between patients is still a widespread problem. Some patients can have repeated attacks that greatly diminish their quality of life. This study was conducted to investigate the relationship between HSP90AA2 polymorphisms and disease susceptibility, GCs efficacy and health-related quality of life (HRQoL) in Chinese SLE patients. A case-control study was performed in 470 SLE patients and 470 normal controls...
June 15, 2018: Genes & Genomics
Gudny Ella Thorlacius, Marie Wahren-Herlenius, Lars Rönnblom
PURPOSE OF REVIEW: Systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS) share several clinical and laboratory features, including an overexpression of type I interferon (IFN) regulated genes. The genetic background to this IFN signature and the role of the type I IFN system in the disease process have been partly clarified. Here, we summarize the latest information concerning the type I IFN system in both diseases. RECENT FINDINGS: A number of gene variants in the type I IFN signalling pathways associate with an increased risk for both SLE and pSS in several ethnicities...
June 9, 2018: Current Opinion in Rheumatology
Magdalena Dryglewska, Bogdan Kolarz, Maria Majdan
Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease that results in uncontrolled immune system activation and overproduction of autoantibodies. The pathogenesis of the disease is complex and not fully understood, nevertheless, genetic and environmental factors play an important role. So far, about 30 genes have been identified to be involved in the SLE pathomechanism. However, not all genetically predisposed individuals develop the disease. This phenomenon can be associated with epigenetic changes that occur under the influence of environmental factors...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Rania S Nageeb, Alaa A Omran, Ghada S Nageeb, Manal A Yousef, Yassir A A Mohammad, Amal Fawzy
Background: Multiple sclerosis (MS) and systemic lupus erythematosus (SLE) are chronic autoimmune mediated diseases with strong genetic and environmental components. The aim of this study is to evaluate the association of STAT4 gene polymorphism with multiple sclerosis (MS) and juvenile onset systemic lupus erythematosus (JO-SLE) and its relation to disease severity. Methods: Group 1 consisted of 40 MS patients while group 2 included 40 JO-SLE patients. Forty healthy volunteers (controls) were included in this study...
2018: The Egyptian journal of neurology, psychiatry and neurosurgery
Takayuki Katsuyama, George C Tsokos, Vaishali R Moulton
Systemic lupus erythematosus (SLE) is a chronic multi-organ debilitating autoimmune disease, which mainly afflicts women in the reproductive years. A complex interaction of genetics, environmental factors and hormones result in the breakdown of immune tolerance to "self" leading to damage and destruction of multiple organs, such as the skin, joints, kidneys, heart and brain. Both innate and adaptive immune systems are critically involved in the misguided immune response against self-antigens. Dendritic cells, neutrophils, and innate lymphoid cells are important in initiating antigen presentation and propagating inflammation at lymphoid and peripheral tissue sites...
2018: Frontiers in Immunology
Justine Calise, Susana Marquez Renteria, Peter K Gregersen, Betty Diamond
Interferon regulatory factor 5 (IRF5) is widely recognized as a risk locus for systemic lupus erythematosus (SLE). Risk gene and IRF5 activation is triggered through toll-like receptor signaling. In myeloid cells, this leads to production of type I interferon and inflammatory cytokines, with enhanced production in cells of individuals harboring IRF5 risk alleles. Mouse models have also demonstrated the importance of IRF5 in B cell function, particularly plasma cell differentiation and isotype switching. Here, we evaluated the major SLE risk haplotype of IRF5 on the functional attributes of freshly isolated B cells from human subjects who do not have evidence of SLE or other forms of autoimmunity...
2018: Frontiers in Immunology
Evangelos Theodorou, Adrianos Nezos, Eleni Antypa, Dimitrios Ioakeimidis, Michael Koutsilieris, Maria Tektonidou, Haralampos M Moutsopoulos, Clio P Mavragani
BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease with an increased atherosclerotic risk compared to healthy population, partially explained by traditional cardiovascular (CV) risk factors. Recent data suggest B-cell activating factor (BAFF) as an important contributor in the pathogenesis of both SLE and atherosclerosis. The aim of the current study is to explore whether serum BAFF levels along with variants of the BAFF gene increase lupus related atherosclerotic risk...
May 30, 2018: Journal of Autoimmunity
Antonio Julià, Francisco Javier López-Longo, José J Pérez Venegas, Silvia Bonàs-Guarch, Àlex Olivé, José Luís Andreu, Mª Ángeles Aguirre-Zamorano, Paloma Vela, Joan M Nolla, José Luís Marenco de la Fuente, Antonio Zea, José María Pego-Reigosa, Mercedes Freire, Elvira Díez, Esther Rodríguez-Almaraz, Patricia Carreira, Ricardo Blanco, Víctor Martínez Taboada, María López-Lasanta, Mireia López Corbeto, Josep M Mercader, David Torrents, Devin Absher, Sara Marsal, Antonio Fernández-Nebro
BACKGROUND: Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with a complex genetic inheritance. Genome-wide association studies (GWAS) have significantly increased the number of significant loci associated with SLE risk. To date, however, established loci account for less than 30% of the disease heritability and additional risk variants have yet to be identified. Here we performed a GWAS followed by a meta-analysis to identify new genome-wide significant loci for SLE...
May 30, 2018: Arthritis Research & Therapy
Xian-Mo Wang, Jian-Cheng Tu
We aim to explore the correlation of TNFSF15 genetic polymorphisms with susceptibility to systemic lupus erythematosus (SLE). This study enrolled SLE patients and healthy individuals to detect three single nucleotide polymorphisms (SNPs) of TNFSF15 (rs3810936, rs6478108 and rs4979462) through using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to analyze the possible association of these three SNPs with the risk of SLE and the mRNA level of TNFSF15 was quantified by real-time PCR...
May 24, 2018: Gene
Shirin Farivar, Fateme Shaabanpour Aghamaleki
The pathogenesis of systemic lupus erythematosus (SLE) is influenced by both genetic factors and epigenetic modifications; the latter is a result of exposure to various environmental factors. Epigenetic modifications affect gene expression and alter cellular functions without modifying the genomic sequences. CpG-DNA methylation, histone modifications, and miRNAs are the main epigenetic factors of gene regulation. In SLE, global and gene-specific DNA methylation changes have been demonstrated to occur in CD4+ T-cells...
May 27, 2018: Iranian Biomedical Journal
Yantong Zhu, Xuebing Feng
Allogeneic mesenchymal stem cell (MSC) transplantation has recently become a promising therapy for patients with systemic lupus erythematosus (SLE). MSCs are a kind of multipotent stem cell than can efficiently modulate both innate and adaptive immune responses, yet those from SLE patients themselves fail to maintain the balance of immune cells, which is partly due to the abnormal genetic background. Clarifying genetic factors associated with MSC dysfunction may be helpful to delineate SLE pathogenesis and provide new therapeutic targets...
May 24, 2018: Stem Cell Research & Therapy
Julie Couture, Sasha Bernatsky, Susan Scott, Christian A Pineau, Evelyne Vinet
OBJECTIVES: Several autoimmune diseases have familial aggregation and possibly, common genetic predispositions. In a large population-based study, we evaluated if children born to mothers with SLE have an increased risk of rheumatic and non-rheumatic autoimmune diseases, versus children born to mothers without SLE. METHODS: Using the "Offspring of SLE mothers Registry (OSLER)", we identified children born live to SLE mothers and their matched controls, and ascertained autoimmune diseases based on ≥1 hospitalization or ≥2 physician visits with a relevant diagnostic code...
May 23, 2018: Arthritis & Rheumatology
George N Goulielmos, Maria I Zervou, Vassilis M Vazgiourakis, Yogita Ghodke-Puranik, Alexandros Garyfallos, Timothy B Niewold
Systemic lupus erythematosus (SLE; OMIM 152700) is a highly heterogeneous disorder, characterized by differences in autoantibody profile, serum cytokines, and a multi-system involvement commonly affecting the skin, renal, musculoskeletal, and hematopoetic systems clinical manifestations involving. Disease features range from mild manifestations, such as rash or arthritis, to life-threatening end-organ manifestations, such as glomerulonephritis or thrombosis, and it is difficult to predict which manifestations will affect a given patient...
May 15, 2018: Gene
Rong Wang, Chun-Fang Wang, Hai-Mei Qin, Yu-Lan Lu, Gui-Jiang Wei, Hua-Tuo Huang, Yang Xiang, Jun-Li Wang, Yan Lan, Ye-Sheng Wei
The aim of this study was to investigate the association of genetic polymorphisms in the promoter region of miR-17-92 with systemic lupus erythematosus (SLE). The gene polymorphism was analysed using SNaPshot in 312 SLE patients and 396 controls. Relative expression of miR-17-92 was measured by quantitative real-time PCR. Association was found between rs9515692 and a decreased risk of SLE (CT vs CC: OR = 0.65, 95%CI, 0.46-0.92, P = .014; CT+TT vs CC: OR = 0.64, 95%CI, 0.46-0.90, P = .009; T vs C: OR = 0.69, 95%CI, 0...
May 16, 2018: Journal of Cellular and Molecular Medicine
Karol Estrada, Christopher W Whelan, Fengmei Zhao, Paola Bronson, Robert E Handsaker, Chao Sun, John P Carulli, Tim Harris, Richard M Ransohoff, Steven A McCarroll, Aaron G Day-Williams, Benjamin M Greenberg, Daniel G MacArthur
Neuromyelitis optica (NMO) is a rare autoimmune disease that affects the optic nerve and spinal cord. Most NMO patients ( > 70%) are seropositive for circulating autoantibodies against aquaporin 4 (NMO-IgG+). Here, we meta-analyze whole-genome sequences from 86 NMO cases and 460 controls with genome-wide SNP array from 129 NMO cases and 784 controls to test for association with SNPs and copy number variation (total N = 215 NMO cases, 1244 controls). We identify two independent signals in the major histocompatibility complex (MHC) region associated with NMO-IgG+, one of which may be explained by structural variation in the complement component 4 genes...
May 16, 2018: Nature Communications
Ezgi Deniz Batu
Systemic lupus erythematosus (SLE) is a complex disease with different genetic, immunologic, and environmental factors contributing to the pathogenesis. Monogenic SLE could help us understand the main phases of immune dysregulation in SLE. The aim of this review is to summarize the current knowledge on monogenic SLE with the implications of the respective genes on disease pathogenesis. A comprehensive literature search on monogenic SLE was conducted utilizing the Cochrane Library and MEDLINE/PubMed databases...
May 15, 2018: Rheumatology International
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