keyword
MENU ▼
Read by QxMD icon Read
search

Genetic lupus

keyword
https://www.readbyqxmd.com/read/29775752/the-genetics-and-molecular-pathogenesis-of-systemic-lupus-erythematosus-sle-in-populations-of-different-ancestry
#1
REVIEW
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
https://www.readbyqxmd.com/read/29773266/genetic-interferonopathies-an-overview
#2
REVIEW
Despina Eleftheriou, Paul A Brogan
Interferonopathies comprise an expanding group of monogenic diseases characterised by disturbance of the homeostatic control of interferon (IFN)-mediated immune responses. Although differing in the degree of phenotypic expression and severity, the clinical presentation of these diseases shows a considerable degree of overlap, reflecting their common pathogenetic mechanisms. Increased understanding of the molecular basis of these Mendelian disorders has led to the identification of targeted therapies for these diseases, which could also be of potential relevance for non-genetic IFN-mediated diseases such as systemic lupus erythematosus and juvenile dermatomyositis...
August 2017: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/29770567/association-between-polymorphisms-in-the-promoter-region-of-mir-17-92-cluster-and-systemic-lupus-erythematosus-in-a-chinese-population
#3
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
https://www.readbyqxmd.com/read/29769526/a-whole-genome-sequence-study-identifies-genetic-risk-factors-for-neuromyelitis-optica
#4
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
https://www.readbyqxmd.com/read/29766256/monogenic-systemic-lupus-erythematosus-insights-in-pathophysiology
#5
REVIEW
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
https://www.readbyqxmd.com/read/29759048/evaluation-of-atg5-polymorphisms-in-italian-patients-with-systemic-lupus-erythematosus-contribution-to-disease-susceptibility-and-clinical-phenotypes
#6
C Ciccacci, C Perricone, C Alessandri, A Latini, C Politi, F Delunardo, M Pierdominici, F Conti, G Novelli, E Ortona, P Borgiani
Systemic lupus erythematosus (SLE) is a common heterogeneous autoimmune disease that is caused by the involvement both of genetic and environmental factors. There is evidence that autophagy is involved in several aspects of SLE pathogenesis. In particular, polymorphisms in the ATG5 gene have been observed to be associated with disease susceptibility. Our aim was to verify if ATG5 polymorphisms are involved in the susceptibility to disease and its clinical phenotypes in an Italian cohort of SLE patients. This study involved 315 SLE patients and 265 healthy controls...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29757430/genome-wide-analysis-of-snps-is-consistent-with-no-domestic-dog-ancestry-in-the-endangered-mexican-wolf-canis-lupus-baileyi
#7
Robert R Fitak, Sarah E Rinkevich, Melanie Culver
The Mexican gray wolf (Canis lupus baileyi) was historically distributed throughout the southwestern United States and northern Mexico. Extensive predator removal campaigns during the early 20th century, however, resulted in its eventual extirpation by the mid 1980s. At this time, the Mexican wolf existed only in 3 separate captive lineages (McBride, Ghost Ranch, and Aragón) descended from 3, 2, and 2 founders, respectively. These lineages were merged in 1995 to increase the available genetic variation, and Mexican wolves were reintroduced into Arizona and New Mexico in 1998...
May 11, 2018: Journal of Heredity
https://www.readbyqxmd.com/read/29755855/association-of-hsp90b1-genetic-polymorphisms-with-efficacy-of-glucocorticoids-and-improvement-of-hrqol-in-systemic-lupus-erythematosus-patients-from-anhui-province
#8
Xiu-Xiu Sun, Su-Su Li, Man Zhang, Qiao-Mei Xie, Jian-Hua Xu, Sheng-Xiu Liu, Yuan-Yuan Gu, Fa-Ming Pan, Jin-Hui Tao, Sheng-Qian Xu, Shuang Liu, Jing Cai, De-Guang Wang, Long Qian, Chun-Huai Wang, Li Lian, Hui Xiao, Pei-Ling Chen, Chun-Mei Liang, You-Bing Fang, Qiang Zhou, Hai-Liang Huang, Hong Su, Hai-Feng Pan, Dong-Qing Ye, Yan-Feng Zou
Objective: The aim of this study was to investigate the associations between HSP90B1 gene polymorphisms and the efficacy of glucocorticoids (GCs) and the improvement of health-related quality of life (HRQoL) in Anhui patients with systemic lupus erythematosus (SLE). Method: A total of 305 patients with SLE were recruited to the study. These patients were treated with GCs for 12 weeks and classified into two groups (sensitivity and insensitivity) according to the response to GCs measured by the scores on SLE disease activity index (SLEDAI)...
2018: American Journal of Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29751523/annexin-a1-and-autoimmunity-from-basic-science-to-clinical-applications
#9
REVIEW
Maurizio Bruschi, Andrea Petretto, Augusto Vaglio, Laura Santucci, Giovanni Candiano, Gian Marco Ghiggeri
Annexin A1 is a protein with multifunctional roles in innate and adaptive immunity mainly devoted to the regulation of inflammatory cells and the resolution of inflammation. Most of the data regarding Annexin A1 roles in immunity derive from cell studies and from mice models lacking Annexin A1 for genetic manipulation (Annexin A1-/- ); only a few studies sought to define how Annexin A1 is involved in human diseases. High levels of anti-Annexin A1 autoantibodies have been reported in systemic lupus erythematosus (SLE), suggesting this protein is implicated in auto-immunity...
May 3, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29740453/deoxyribonucleic-acid-methylation-in-systemic-lupus-erythematosus-implications-for-future-clinical-practice
#10
REVIEW
Emma Weeding, Amr H Sawalha
Differential deoxyribonucleic acid (DNA) methylation has emerged as a critical feature of systemic lupus erythematosus (SLE). Genome-wide DNA methylation studies have revealed methylation patterns characteristic of SLE-in particular, robust hypomethylation of interferon-regulated genes is a prominent finding in all cells of the immune system studied to date. These patterns reliably distinguish individuals with SLE from healthy controls and from individuals with other autoimmune diseases. For example, hypomethylation within IFI44L is both highly sensitive and highly specific for SLE, superior to currently available biomarkers...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29739689/exome-sequencing-revealed-c1q-homozygous-mutation-in-pediatric-systemic-lupus-erythematosus
#11
S Zoghi, V Ziaee, T Hirschmugl, R Jimenez-Heredia, A Krolo, K Boztug, N Rezaei
INTRODUCTION AND OBJECTIVES: Pediatric Systemic Lupus Erythematosus (pSLE) is an autoimmune disorder of children. Early disease onset raises the probability of genetic etiology and it is more severe than adult SLE. PATIENTS AND METHODS: Herein an eight-year-old girl with pSLE from consanguineous parents is reported. RESULTS: Although she was diagnosed as pSLE since the age of two years, Whole Exome Sequencing (WES) revealed a rare stop-gained C>T mutation in C1QA gene...
May 5, 2018: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/29724134/cigarette-smoking-and-the-pathogenesis-of-systemic-lupus-erythematosus
#12
Cameron B Speyer, Karen H Costenbader
Systemic lupus erythematosus (SLE) is a multi-system inflammatory autoimmune disease of incompletely understood etiology. It is thought that environmental exposures "trigger" or accelerate the disease in genetically-predisposed individuals. Areas covered: Substantial epidemiological evidence exists to support the association between cigarette smoking and the risk of incident SLE. Recent evidence points to current smoking as the specific risk factor, with decreasing risk 5 years after smoking cessation, and the greatest risk for disease characterized by the presence of SLE- specific autoantibodies...
May 3, 2018: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29718222/genetic-variation-affects-c-reactive-protein-elevations-in-crohn-s-disease
#13
Christopher J Moran, Jess L Kaplan, Harland S Winter
Background: C-reactive protein (CRP) is a serum marker that is used to measure disease activity in Crohn's disease (CD). However, a subset of CD patients have normal CRP during flares. In rheumatoid arthritis and lupus, genetic variants can restrict CRP elevations during flares. This study sought to determine if common CRP genetic variants affect CRP values during active CD. Methods: Subjects with CD who participated in the Partners HealthCare BioBank were genotyped for 5 common CRP genetic variants (rs2794520, rs3122012, rs3093077, rs2808635, and rs1800947)...
April 28, 2018: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29713318/complement-activation-in-inflammatory-skin-diseases
#14
REVIEW
Jenny Giang, Marc A J Seelen, Martijn B A van Doorn, Robert Rissmann, Errol P Prens, Jeffrey Damman
The complement system is a fundamental part of the innate immune system, playing a crucial role in host defense against various pathogens, such as bacteria, viruses, and fungi. Activation of complement results in production of several molecules mediating chemotaxis, opsonization, and mast cell degranulation, which can contribute to the elimination of pathogenic organisms and inflammation. Furthermore, the complement system also has regulating properties in inflammatory and immune responses. Complement activity in diseases is rather complex and may involve both aberrant expression of complement and genetic deficiencies of complement components or regulators...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29701842/the-emerging-immunogenetic-architecture-of-schizophrenia
#15
Jennie G Pouget
Schizophrenia is a severe psychiatric disorder of complex etiology. Immune processes have long been proposed to contribute to the development of schizophrenia, and accumulating evidence supports immune involvement in at least a subset of cases. In recent years, large-scale genetic studies have provided new insights into the role of the immune system in this disease. Here, we provide an overview of the immunogenetic architecture of schizophrenia based on findings from genome-wide association studies (GWAS). First, we review individual immune loci identified in secondary analyses of GWAS, which implicate over 30 genes expressed in both immune and brain cells...
April 26, 2018: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29698559/tuftsin-phosphorylcholine-tpc-equally-effective-to-methylprednisolone-in-ameliorating-lupus-nephritis-in-a-mice-model
#16
Asaf Shemer, Shay Kivity, Ora Shovman, Ori Perry, Abdulla Watad, Dana Ben-Ami Shor, Alex Volkov, Iris Barshack, Nicola L Bragazzi, Alexander Krule, Mati Fridkin, Howard Amital, Miri Blank, Yehuda Shoenfeld
BACKGROUND: The role of helminth treatment in autoimmune diseases is constantly growing. Systemic lupus erythematosus (SLE) is a multi-system autoimmune disease with challenging treatment options. Tuftsin phosphorylcholine (TPC) is a novel helminth-based compound that modulates the host immune network. OBJECTIVES: This study was conducted to evaluate the potential value of TPC in ameliorating lupus nephritis in a murine model and specifically to compare the efficacy of TPC to the existing first-line therapy for SLE: corticosteroids (methylprednisolone)...
April 26, 2018: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29693174/whole%C3%A2-genome-sequencing-of-a-monozygotic-twin-discordant-for-systemic-lupus-erythematosus
#17
Fei Chen, Zhen Li, Rong Li, Yunlong Li
Systemic lupus erythematosus (SLE) is an autoimmune disease, and its genetic causes remain to be fully elucidated. Previous studies have identified several susceptibility genes for SLE, such as deoxyribonuclease 1‑like 3. In the present study, whole‑genome sequencing (30X coverage) was performed on the leukocytes of a monozygotic twin discordant for SLE to assess the potential association of de novo variants and copy number variations (CNVs) with the susceptibility to SLE. After analyzing the genomic data, 8 putative discordant exonic variants between the twins were selected...
April 20, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29692593/complement-deficiency-in-pediatric-onset-systemic-lupus-erythematosus
#18
Parisa Afzali, Anna Isaeian, Peyman Sadeghi, Bobak Moazzami, Nima Parvaneh, Masoumeh Robatjazi, Vahid Ziaee
BACKGROUND: Pediatric-onset systemic lupus erythematosus (pSLE) accounts for about 10%-20% of all patients with SLE. Deficiencies in early complement components of the classical pathway are the strong genetic risk factor for the development of SLE. In this study, clinical and laboratory manifestations of both complement-deficient and normal complement pSLE patients were compared. MATERIALS AND METHODS: To investigate clinical and immunological manifestations of pSLE in Iran, 36 consecutive pSLE patients (onset before 18 years) who were followed up over a period of 2 years, were studied...
April 2018: Journal of Laboratory Physicians
https://www.readbyqxmd.com/read/29687651/tlr9-deficiency-breaks-tolerance-to-rna-associated-antigens-and-upregulates-tlr7-protein-in-sle1-mice
#19
Teja Celhar, Hiroko Yasuga, Hui-Yin Lee, Olga Zharkova, Shubhita Tripathi, Susannah I Thornhill, Hao K Lu, Bijin Au, Lina H K Lim, Thomas P Thamboo, Shizuo Akira, Edward K Wakeland, John E Connolly, Anna-Marie Fairhurst
OBJECTIVE: Toll-like receptors (TLRs) 7 and 9 are important innate signaling molecules with opposing roles in the development and progression of Systemic Lupus Erythematosus (SLE). While multiple studies support a dependency on TLR7 for disease development, genetic ablation of TLR9 results in severe disease with glomerulonephritis (GN) by a largely unknown mechanism. The present study was designed to examine the suppressive role of TLR9 in the development of severe lupus. METHODS: We crossed Sle1 lupus-prone mice with TLR9-deficient mice to generate Sle1TLR9-/- ...
April 24, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29680223/dysregulation-of-micrornas-in-autoimmune-diseases-pathogenesis-biomarkers-and-potential-therapeutic-targets
#20
Hai Long, Xin Wang, Yongjian Chen, Ling Wang, Ming Zhao, Qianjin Lu
MicroRNAs (miRNAs) are small, single-stranded, endogenous non-coding RNAs that repress the expression of target genes via post-transcriptional mechanisms. Due to their broad regulatory effects, the precisely regulated, spatial-specific and temporal-specific expression of miRNAs is fundamentally important to various biological processes including the immune homeostasis and normal function of both innate and adaptive immune response. Aberrance of miRNAs is implicated in the development of various human diseases, especially cancers...
April 19, 2018: Cancer Letters
keyword
keyword
93837
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"