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SLE genetics

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https://www.readbyqxmd.com/read/27909160/evaluation-of-polymorphic-variants-in-apoptotic-genes-and-their-role-in-susceptibility-and-clinical-progression-to-systemic-lupus-erythematosus
#1
N Glesse, P Vianna, L M G Paim, M C C Matte, A K K Aguiar, P L Palhano, O A Monticielo, C V Brenol, R M Xavier, J A B Chies
BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune disease marked by the disruption of the immune homeostasis. Patients exhibit a wide range of clinical manifestations, and environmental and genetic factors are involved in SLE pathogenesis. Evidence suggests that abnormalities in the cellular and molecular events that coordinate apoptosis may favour the generation of autoantigens involved in autoimmunity. In this way, the apoptotic deregulation may be affected by polymorphic variants in apoptotic-related genes...
November 30, 2016: Lupus
https://www.readbyqxmd.com/read/27906046/chromatin-landscapes-and-genetic-risk-in-systemic-lupus
#2
Joyce S Hui-Yuen, Lisha Zhu, Lai Ping Wong, Kaiyu Jiang, Yanmin Chen, Tao Liu, James N Jarvis
BACKGROUND: Systemic lupus erythematosus (SLE) is a multi-system, complex disease in which the environment interacts with inherited genes to produce broad phenotypes with inter-individual variability. Of 46 single nucleotide polymorphisms (SNPs) shown to confer genetic risk for SLE in recent genome-wide association studies, 30 lie within noncoding regions of the human genome. We therefore sought to identify and describe the functional elements (aside from genes) located within these regions of interest...
December 1, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27885845/dna-methylation-in-systemic-lupus-erythematosus
#3
Christian M Hedrich, Katrin Mäbert, Thomas Rauen, George C Tsokos
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease facilitated by aberrant immune responses directed against cells and tissues, resulting in inflammation and organ damage. In the majority of patients, genetic predisposition is accompanied by additional factors conferring disease expression. While the exact molecular mechanisms remain elusive, epigenetic alterations in immune cells have been demonstrated to play a key role in disease pathogenesis through the dysregulation of gene expression...
November 25, 2016: Epigenomics
https://www.readbyqxmd.com/read/27879428/a-polymorphism-upstream-mir1279-gene-is-associated-with-pericarditis-development-in-systemic-lupus-erythematosus-and-contributes-to-definition-of-a-genetic-risk-profile-for-this-complication
#4
C Ciccacci, C Perricone, C Politi, S Rufini, F Ceccarelli, E Cipriano, C Alessandri, A Latini, G Valesini, G Novelli, F Conti, P Borgiani
Recently, a study has shown that a polymorphism in the region of MIR1279 modulates the expression of the TRAF3IP2 gene. Since polymorphisms in the TRAF3IP2 gene have been described in association with systemic lupus erithematosus (SLE) susceptibility and with the development of pericarditis, our aim is to verify if the MIR1279 gene variability could also be involved. The rs1463335 SNP, located upstream MIR1279 gene, was analyzed by allelic discrimination assay in 315 Italian SLE patients and 201 healthy controls...
November 22, 2016: Lupus
https://www.readbyqxmd.com/read/27878683/april-gene-polymorphism-and-serum-sapril-levels-in-children-with-systemic-lupus-erythematosus
#5
Shideh Namazi, Nader Tajik, Vahid Ziaee, Maryam Sadr, Samaneh Soltani, Arezou Rezaei, Samaneh Zoghi, Nima Rezaei
Systemic lupus erythematosus (SLE) is a multi-factor autoimmune disorder with diverse clinical manifestations and unclear pathogenesis. Genetic components play important roles in the incidence and development of SLE. Among these, APRIL as a cytokine has roles in the stimulation and antibody production in B cells. APRIL was hypothesized to be associated with SLE. The aim of this study was to assess the involvement of the APRIL gene in SLE susceptibility in Iranian patients. A single-nucleotide polymorphism (SNP) for rs11552708 of APRIL gene was analyzed by real-time PCR in 60 SLE Iranian children and 64 healthy controls...
November 23, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27872476/new-insights-into-the-immunopathogenesis-of-systemic-lupus-erythematosus
#6
REVIEW
George C Tsokos, Mindy S Lo, Patricia Costa Reis, Kathleen E Sullivan
The aetiology of systemic lupus erythematosus (SLE) is multifactorial, and includes contributions from the environment, stochastic factors, and genetic susceptibility. Great gains have been made in understanding SLE through the use of genetic variant identification, mouse models, gene expression studies, and epigenetic analyses. Collectively, these studies support the concept that defective clearance of immune complexes and biological waste (such as apoptotic cells), neutrophil extracellular traps, nucleic acid sensing, lymphocyte signalling, and interferon production pathways are all central to loss of tolerance and tissue damage...
November 22, 2016: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/27864698/blk-pathway-associated-rs13277113-ga-genotype-is-more-frequent-in-sle-patients-and-associated-with-low-gene-expression-and-increased-flares
#7
Omer Nuri Pamuk, Hakan Gurkan, Gulsum Emel Pamuk, Hilmi Tozkır, Julide Duymaz, Metin Yazar
We aimed to evaluate the relationship between some important genetic variations and expressions of these genes in our SLE population. We also determined their association with clinical parameters. Eighty-four SLE patients (79 F, 5 M) and 105 healthy controls (98 F, 7 M) were included in the study. rs13277113, rs2736340, rs7829816, rs6983130, rs2613310, and rs704853 polymorphisms, gene expressions of Src family kinases (Blk, Hck, Lck, and Lyn), and Syk kinases (Syk, ZAP70) were studied by real-time PCR. The heterozygous genotypic pattern (GA) for rs13277113 polymorphism was more frequent in patients with SLE when compared to that in controls (48...
November 18, 2016: Clinical Rheumatology
https://www.readbyqxmd.com/read/27856665/emerging-roles-of-egr2-and-egr3-in-the-control-of-systemic-autoimmunity
#8
REVIEW
Kaoru Morita, Tomohisa Okamura, Shuji Sumitomo, Yukiko Iwasaki, Keishi Fujio, Kazuhiko Yamamoto
SLE is an autoimmune disease characterized by multiple organ damage mediated by autoantibodies and autoreactive T cells. Approaches utilizing genetically engineered mice as well as genome-wide association studies have identified a number of lupus-related genes. Recently, early growth response gene 2 (Egr2) and Egr3 have emerged as regulatory molecules that suppress excessive immune responses. Mice deficient for Egr2 and Egr3 develop a lupus-like disease with dysregulated activation of effector T cells. Furthermore, Egr2 and Egr3 confer suppressive activity to CD4(+) T cells and regulate the production of inhibitory cytokines such as IL-10 and TGF-β1...
December 2016: Rheumatology
https://www.readbyqxmd.com/read/27846842/a-meta-analysis-of-public-microarray-data-identifies-gene-regulatory-pathways-deregulated-in-peripheral-blood-mononuclear-cells-from-individuals-with-systemic-lupus-erythematosus-compared-to-those-without
#9
Wendy Kröger, Darlington Mapiye, Jean-Baka Domelevo Entfellner, Nicki Tiffin
BACKGROUND: Systemic Lupus Erythematosus (SLE) is a complex, multi-systemic, autoimmune disease for which the underlying aetiological mechanisms are poorly understood. The genetic and molecular processes underlying lupus have been extensively investigated using a variety of -omics approaches, including genome-wide association studies, candidate gene studies and microarray experiments of differential gene expression in lupus samples compared to controls. METHODS: This study analyses a combination of existing microarray data sets to identify differentially regulated genetic pathways that are dysregulated in human peripheral blood mononuclear cells from SLE patients compared to unaffected controls...
November 15, 2016: BMC Medical Genomics
https://www.readbyqxmd.com/read/27833448/a-possible-link-between-the-epstein-barr-virus-infection-and-autoimmune-thyroid-disorders
#10
REVIEW
Anna Dittfeld, Katarzyna Gwizdek, Marek Michalski, Romuald Wojnicz
The Epstein-Barr virus (EBV), also known as human herpesvirus 4, is a member of the Herpesviridae virus family. EBV infection can cause infectious mononucleosis (IM) in the lytic phase of EBV's life cycle. Past EBV infection is associated with lymphomas, and may also result in certain allergic and autoimmune diseases. Although potential mechanisms of autoimmune diseases have not been clearly elucidated, both genetic and environmental factors, such as infectious agents, are considered to be responsible for their development...
2016: Central-European Journal of Immunology
https://www.readbyqxmd.com/read/27821515/an-autosomal-recessive-dnase1l3-related-autoimmune-disease-with-unusual-clinical-presentation-mimicking-systemic-lupus-erythematosus
#11
A Carbonella, G Mancano, E Gremese, F S Alkuraya, N Patel, F Gurrieri, G Ferraccioli
We describe the third family in the world, after Arabian and Turkish ones, displaying an autosomal recessive autoimmune disease (AID), mimicking systemic lupus erythematosus (SLE), with unusual manifestations due to a homozygous frame-shift variant in DNASE1L3 SLE is a complex AID characterized by multiple organ involvement. Genetic risk variants identified account for only 15% of SLE heritability. Rare Mendelian forms have been reported, including DNASE1L3-related SLE.Through specific genetic tests we identified a homozygous 2 bp-deletion c...
November 7, 2016: Lupus
https://www.readbyqxmd.com/read/27821390/update-on-lupus-nephritis
#12
Salem Almaani, Alexa Meara, Brad H Rovin
SLE is a chronic inflammatory disease that affects the kidneys in about 50% of patients. Lupus nephritis is a major risk factor for overall morbidity and mortality in SLE, and despite potent anti-inflammatory and immunosuppressive therapies still ends in CKD or ESRD for too many patients. This review highlights recent updates in our understanding of disease epidemiology, genetics, pathogenesis, and treatment in an effort to establish a framework for lupus nephritis management that is patient-specific and oriented toward maintaining long-term kidney function in patients with lupus...
November 7, 2016: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/27816669/the-bank1-sle-risk-variants-are-associated-with-alterations-in-peripheral-b-cell-signaling-and-development-in-humans
#13
Elizabeth M Dam, Tania Habib, Janice Chen, Andrew Funk, Veronika Glukhova, Mel Davis-Pickett, Shan Wei, Richard James, Jane H Buckner, Karen Cerosaletti
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the development of autoantibodies that drive disease pathogenesis. Genetic studies have associated nonsynonymous variants in the BANK1 B cell scaffolding gene with susceptibility to SLE and autoantibodies in lupus. To determine how the BANK1 SLE-risk variants contribute to the dysregulated B cell program in lupus, we performed genotype/phenotype studies in human B cells. Targeted phospho-proteomics were used to evaluate BCR/CD40 signaling in human B cell lines engineered to express the BANK1 risk or non-risk variant proteins...
November 2, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27812954/activation-of-the-mechanistic-target-of-rapamycin-in-sle-explosion-of-evidence-in-the-last-five-years
#14
REVIEW
Zachary Oaks, Thomas Winans, Nick Huang, Katalin Banki, Andras Perl
The mechanistic target of rapamycin (mTOR) is a central regulator in cell growth, activation, proliferation, and survival. Activation of the mTOR pathway underlies the pathogenesis of systemic lupus erythematosus (SLE). While mTOR activation and its therapeutic reversal were originally discovered in T cells, recent investigations have also uncovered roles in other cell subsets including B cells, macrophages, and "non-immune" organs such as the liver and the kidney. Activation of mTOR complex 1 (mTORC1) precedes the onset of SLE and associated co-morbidities, such as anti-phospholipid syndrome (APS), and may act as an early marker of disease pathogenesis...
December 2016: Current Rheumatology Reports
https://www.readbyqxmd.com/read/27812953/monogenic-lupus
#15
REVIEW
Mindy S Lo
PURPOSE OF REVIEW: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease known for its clinical heterogeneity. Over time, new insights into the complex genetic origin of SLE have started to explain some of this clinical variability. These findings, reviewed here, have also yielded important understanding in the immune mechanisms behind SLE pathogenesis. RECENT FINDINGS: Several new monogenic disorders with lupus-like phenotype have been described...
December 2016: Current Rheumatology Reports
https://www.readbyqxmd.com/read/27804980/novel-identified-associations-of-rgs1-and-rasgrp1-variants-in-iga-nephropathy
#16
Xu-Jie Zhou, Swapan K Nath, Yuan-Yuan Qi, Celi Sun, Ping Hou, Yue-Miao Zhang, Ji-Cheng Lv, Su-Fang Shi, Li-Jun Liu, Ruoyan Chen, Wanling Yang, Kevin Zhi He, Yanming Li, Hong Zhang
Known susceptibility loci together can only explain about 6-8% of the disease heritability of IgA nephropathy (IgAN), suggesting that there are still a large number of genetic variants remained to be discovered. We previously identified IgAN and systemic lupus erythematosus (SLE)/lupus nephritis (LN) shared many loci based on GWAS on Chinese populations. The more recent study with high-density genotyping of immune-related loci in individuals with Asian ancestry identified 10 new and 6 suggestive loci in SLE...
November 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27780774/the-contribution-of-the-programmed-cell-death-machinery-in-innate-immune-cells-to-lupus-nephritis
#17
FuNien Tsai, Harris Perlman, Carla M Cuda
Systemic lupus erythematosus (SLE) is a chronic multi-factorial autoimmune disease initiated by genetic and environmental factors, which in combination trigger disease onset in susceptible individuals. Damage to the kidney as a consequence of lupus nephritis (LN) is one of the most prevalent and severe outcomes, as LN affects up to 60% of SLE patients and accounts for much of SLE-associated morbidity and mortality. As remarkable strides have been made in unlocking new inflammatory mechanisms associated with signaling molecules of programmed cell death pathways, this review explores the available evidence implicating the action of these pathways specifically within dendritic cells and macrophages in the control of kidney disease...
October 22, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27770825/suppression-of-lupus-nephritis-and-skin-lesions-in-mrl-lpr-mice-by-administration-of-the-topoisomerase-i-inhibitor-irinotecan
#18
Andreas Keil, Sean R Hall, Meike Körner, Martin Herrmann, Ralph A Schmid, Steffen Frese
BACKGROUND: Since the precise mechanism for the pathogenesis of systemic lupus erythematosus (SLE) is unknown, no targeted therapies in addition to immunosuppression are available so far. We recently demonstrated that administration of the topoisomerase I (topo I) inhibitor irinotecan at extremely low concentrations reversed established lupus nephritis in NZB/NZW mice. While profound immunosuppression was absent, we proposed changes in DNA relaxation and anti-double-stranded (ds)DNA antibody binding as the underlying mechanism...
October 22, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27729837/recapitulation-of-candidate-systemic-lupus-erythematosus-associated-variants-in-koreans
#19
Ki-Sung Kwon, Hye-Young Cho, Yeun-Jun Chung
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organ systems. Although the etiology of SLE remains unclear, it is widely accepted that genetic factors could be involved in its pathogenesis. A number of genome-wide association studies (GWASs) have identified novel single-nucleotide polymorphisms (SNPs) associated with the risk of SLE in diverse populations. However, not all the SNP candidates identified from non-Asian populations have been validated in Koreans. In this study, we aimed to replicate the SNPs that were recently discovered in the GWAS; these SNPs have not been validated in Koreans or have only been replicated in Koreans with an insufficient sample size to conclude any association...
September 2016: Genomics & Informatics
https://www.readbyqxmd.com/read/27696782/human-endogenous-retroviral-genetic-element-with-immune-suppressive-activity-in-both-human-autoimmune-diseases-and-experimental-arthritis
#20
Magdalena Janina Laskaj, Anne Troldborg, Ellen-Margrethe Hauge, Shervin Bahrami, Kristian Stengaard-Pedersen
OBJECTIVES: Human Endogenous Retroviruses (HERVs) are remnants of past retroviral infections in the human genome and have been implicated in different aspects of human biology. The aim of this study was to identify HERVs which are associated with the pathogenesis of Rheumatoid diseases represented by Systemic Lupus Erythematosus (SLE). METHODS: The study subjects included 45 female patients with SLE and 50 geographically and age matched healthy. Real-time RT-PCR analysis was used to examine the transcription levels of 11 genes with coding capacity for complete envelope protein in these individuals...
October 1, 2016: Arthritis & Rheumatology
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