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https://www.readbyqxmd.com/read/29155234/survivin-and-autoimmunity-the-ins-and-outs
#1
REVIEW
Hamidreza Ebrahimiyan, Saeed Aslani, Nima Rezaei, Ahmadreza Jamshidi, Mahdi Mahmoudi
Autoimmunity is a status that immune mechanisms react against self-structure. The immune mechanisms, including cellular and molecular elements have been developed to immune body against foreign invades. Multiple factors such as genetic and epigenetic background, hormonal status, microbiome, and other factors can cause launching the autoreactive responses, in which the immune tolerance breaks and immune mechanisms are against self-antigens. Apoptosis is one of the important mechanisms in maintaining the tolerance and eliminating the autoreactive lymphocyte clones...
November 16, 2017: Immunology Letters
https://www.readbyqxmd.com/read/29152150/meta-analysis-of-the-association-between-nlrp1-polymorphisms-and-the-susceptibility-to-vitiligo-and-associated-autoimmune-diseases
#2
Juan Li, Min Yan, Yuan Zhang, Chao Feng, Huicong Wang, Cuiyu Wang, Li Sun
Genetic variants are linked to vitiligo and associated autoimmune diseases. We performed a meta-analysis to evaluate the effects of the rs12150220, rs2670660, and rs6502867 polymorphisms within the human NLR Family Pyrin Domain Containing 1 (NLRP1) gene. We initially identified 1,306 candidate articles through literature searches of Pubmed, WOS, Embase, CNKI, WANFANGI, Ovid, Scopus, and Cochrane in July 2017. After strict screening, we included 19 eligible case-control studies, and analyzed the data using Stata/SE 12...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29142473/genetic-associations-with-adverse-events-from-anti-tumor-necrosis-factor-therapy-in-inflammatory-bowel-disease-patients
#3
Daniel Lew, Soon Man Yoon, Xiaofei Yan, Lori Robbins, Talin Haritunians, Zhenqiu Liu, Dalin Li, Dermot Pb McGovern
AIM: To study the type and frequency of adverse events associated with anti-tumor necrosis factor (TNF) therapy and evaluate for any serologic and genetic associations. METHODS: This study was a retrospective review of patients attending the inflammatory bowel disease (IBD) centers at Cedars-Sinai IBD Center from 2005-2016. Adverse events were identified via chart review. IBD serologies were measured by ELISA. DNA samples were genotyped at Cedars-Sinai using Illumina Infinium Immunochipv1 array per manufacturer's protocol...
October 28, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29138598/familial-aggregation-of-myasthenia-gravis-in-affected-families-a-population-based-study
#4
Fu-Chao Liu, Chang-Fu Kuo, Lai-Chu See, Hsin-I Tsai, Huang-Ping Yu
Introduction: Myasthenia gravis (MG) is clinically heterogeneous and can be life-threatening if bulbar or respiratory muscles are involved. However, relative contributions of genetic, shared, and nonshared environmental factors to MG susceptibility remain unclear. The aim of this study was to examine the familial aggregation and heritability of MG and the relative risks (RRs) of other autoimmune diseases in the relatives of patients with MG. Methods: A population-based family study using the Taiwan National Health Insurance (NHI) Database was conducted...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/29121454/the-innate-and-adaptive-immune-response-are-both-involved-in-drug-induced-autoimmunity
#5
EDITORIAL
Amr H Sawalha
Drug-induced autoimmunity is an intriguing phenomenon that has been described in the medical literature at least since 1945, with a report from the Medical Corps of the Army of the United States describing a case of systemic lupus erythematosus induced by sulfadiazine (1). While an autoantibody response in drug-induced autoimmunity is more universal, the spectrum of clinical autoimmunity is variable and likely influenced by host genetics including genetic variants predisposing to autoimmunity and genetic variants affecting drug metabolism...
November 9, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29121089/habitat-suitability-and-movement-corridors-of-grey-wolf-canis-lupus-in-northern-pakistan
#6
Muhammad Kabir, Shoaib Hameed, Hussain Ali, Luciano Bosso, Jaffar Ud Din, Richard Bischof, Steve Redpath, Muhammad Ali Nawaz
Habitat suitability models are useful to understand species distribution and to guide management and conservation strategies. The grey wolf (Canis lupus) has been extirpated from most of its historic range in Pakistan primarily due to its impact on livestock and livelihoods. We used non-invasive survey data from camera traps and genetic sampling to develop a habitat suitability model for C. lupus in northern Pakistan and to explore the extent of connectivity among populations. We detected suitable habitat of grey wolf using a maximum entropy approach (Maxent ver...
2017: PloS One
https://www.readbyqxmd.com/read/29118518/insignificant-correlation-between-thyroid-hormone-and-antithyroid-peroxidase-antibodies-in-alopecia-areata-patients-in-northern-rajasthan
#7
Gagandeep Kaur, C M Kuldeep, Puneet Bhargava, Deepak Kumar Mathur, Sonam Sharda, Pulkit Chaturvedi
Background: Alopecia areata (AA) is a common, recurrent form of nonscarring alopecia which often presents as circumscribed patches of spontaneous hair loss. The global prevalence of this disease varies from 0.1% to 0.2% in general population and 7-30 cases per 1000 dermatological patients. The etiology of AA still remains uncertain; however, genetic or environmental factor and autoimmunity are claimed responsible for it. Various autoimmune diseases, such as Hashimoto's thyroiditis, diabetes mellitus, vitiligo, and lupus erythematosus, have been reported in association with AA...
October 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/29115062/monogenic-interferonopathies-phenotypic-and-genotypic-findings-of-candle-syndrome-and-its-overlap-with-c1q-deficient-sle
#8
Sulaiman M Al-Mayouf, Alhanouf AlSaleem, Nora AlMutairi, Abdullah AlSonbul, Tariq Alzaid, Anas M Alazami, Hamoud Al-Mousa
OBJECTIVE: To report the clinical and genetic features of the first cases of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome in an Arab population and to compare them with patients of C1q deficient systemic lupus erythematosus (SLE). MATERIALS AND METHODS: This is a retrospective case series of patients with CANDLE syndrome and C1q deficient SLE seen at a single tertiary hospital. Medical records were reviewed for demographic data, clinical and laboratory features, histopathology and imaging findings, and response to therapeutic intervention...
November 8, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/29110756/apol1-nephropathy-a-population-genetics-and-evolutionary-medicine-detective-story
#9
REVIEW
Etty Kruzel-Davila, Walter G Wasser, Karl Skorecki
Common DNA sequence variants rarely have a high-risk association with a common disease. When such associations do occur, evolutionary forces must be sought, such as in the association of apolipoprotein L1 (APOL1) gene risk variants with nondiabetic kidney diseases in populations of African ancestry. The variants originated in West Africa and provided pathogenic resistance in the heterozygous state that led to high allele frequencies owing to an adaptive evolutionary selective sweep. However, the homozygous state is disadvantageous and is associated with a markedly increased risk of a spectrum of kidney diseases encompassing hypertension-attributed kidney disease, focal segmental glomerulosclerosis, human immunodeficiency virus nephropathy, sickle cell nephropathy, and progressive lupus nephritis...
November 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/29101539/first-molecular-identification-of-kobuviruses-in-wolves-canis-lupus-in-italy
#10
Irene Melegari, Vittorio Sarchese, Federica Di Profio, Serena Robetto, Emanuele Carella, Sandra Bermudez Sanchez, Riccardo Orusa, Vito Martella, Fulvio Marsilio, Barbara Di Martino
Canine kobuviruses (CaKoVs) were first identified in diarrhoeic and asymptomatic dogs in 2011 in the USA. Subsequent studies have demonstrated a worldwide distribution of these viruses, but it is not clear if CaKoVs play a role as enteric pathogens of dogs. More recently, CaKoV RNA has been detected in wild carnivores, including red fox, golden jackal, side-striped jackal and spotted hyena. In this study, we addressed the hypothesis that wolves are susceptible to CaKoV infections. A total of 185 wolf stool samples were collected from necropsied animals and from transects in the Liguria, Piemonte and Valle D'Aosta regions of Italy, and CaKoV RNA was identified in two of these specimens...
November 3, 2017: Archives of Virology
https://www.readbyqxmd.com/read/29100671/-nettling-the-host-breaking-of-tolerance-in-chronic-inflammation-and-chronic-infection
#11
REVIEW
Sladjana Skopelja-Gardner, Jonathan D Jones, William F C Rigby
How and why we break tolerance to self-proteins still remains a largely unanswered question. Neutrophils have been identified as a rich source of autoantigens in a wide array of autoimmune diseases that arise as a consequence of different environmental and genetic factors, e.g. rheumatoid arthritis (RA), lupus, vasculitis, cystic fibrosis (CF) etc. Specifically, neutrophil extracellular trap (NET) formation has been identified as a link between innate and adaptive immune responses in autoimmunity. Autoantigens including neutrophil granular proteins (targeted by anti-neutrophil cytoplasmic antibodies, ANCA) as well as post-translationally modified proteins, i...
October 31, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29092674/autoantibodies-against-complement-components-in-systemic-lupus-erythematosus-role-in-the-pathogenesis-and-clinical-manifestations
#12
M H Hristova, V S Stoyanova
Many complement structures and a number of additional factors, i.e. autoantibodies, receptors, hormones and cytokines, are implicated in the complex pathogenesis of systemic lupus erythematosus. Genetic defects in the complement as well as functional deficiency due to antibodies against its components lead to different pathological conditions, usually clinically presented. Among them hypocomplementemic urticarial vasculitis, different types of glomerulonephritis as dense deposit disease, IgA nephropathy, atypical haemolytic uremic syndrome and lupus nephritis are very common...
December 2017: Lupus
https://www.readbyqxmd.com/read/29080553/comprehensive-approach-to-study-complement-c4-in-systemic-lupus-erythematosus-gene-polymorphisms-protein-levels-and-functional-activity
#13
M W P Tsang-A-Sjoe, I E M Bultink, L A Korswagen, A van der Horst, I Rensink, M de Boer, D Hamann, A E Voskuyl, D Wouters
Genetic variation of the genes encoding complement component C4 is strongly associated with systemic lupus erythematosus (SLE), a chronic multi-organ auto-immune disease. This study examined C4 and its isotypes on a genetic, protein, and functional level in 140 SLE patients and 104 healthy controls. Gene copy number (GCN) variation, silencing CT-insertion, and the retroviral HERV-K(C4) insertion) were analyzed with multiplex ligation-dependent probe amplification. Increased susceptibility to SLE was found for low GCN (≪2) of C4A...
October 25, 2017: Molecular Immunology
https://www.readbyqxmd.com/read/29075476/phylogeographic-and-phylogenetic-analysis-for-tripterygium-species-delimitation
#14
Baowei Ma, Tianyuan Hu, Pei Li, Qingjun Yuan, Zhaoshou Lin, Yuhe Tu, Jia Li, Xianan Zhang, Xiaoyi Wu, Xiujuan Wang, Luqi Huang, Wei Gao
Tripterygium wilfordii (Celastraceae) is a traditional Chinese medicine; and the dried root and rhizome constitute the main officinal parts. Tripterygium wilfordii has been identified as a potential candidate for the treatment of systemic lupus erythematosus, rheumatoid arthritis, nephritis, asthma, leprosy, and cancer. The phylogenetic relationships within the Tripterygium genus are ambiguous; thus, our aim is to clarify the relationships within this genus using phylogeographic and phylogenetic analyses. Here, we first sequenced three plastid DNA regions (i...
October 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29070672/broad-susceptibility-of-nucleolar-proteins-and-autoantigens-to-complement-c1-protease-degradation
#15
Yitian Cai, Seng Yin Kelly Wee, Junjie Chen, Boon Heng Dennis Teo, Yee Leng Carol Ng, Khai Pang Leong, Jinhua Lu
Anti-nuclear autoantibodies, which frequently target the nucleoli, are pathogenic hallmarks of systemic lupus erythematosus (SLE). Although the causes of these Abs remain broad and ill-defined, a genetic deficiency in C1 complex (C1qC1r2C1s2) or C4 is able to induce these Abs. Considering a recent finding that, in dead cells, nucleoli were targeted by C1q and two nucleolar autoantigens were degraded by C1r/C1s proteases, we considered that C1 could help protect against antinuclear autoimmunity by broadly degrading nucleolar proteins or autoantigens...
October 25, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29070082/sex-influences-eqtl-effects-of-sle-and-sj%C3%A3-gren-s-syndrome-associated-genetic-polymorphisms
#16
Magdalena Lindén, Jorge I Ramírez Sepúlveda, Tojo James, Gudny Ella Thorlacius, Susanna Brauner, David Gómez-Cabrero, Tomas Olsson, Ingrid Kockum, Marie Wahren-Herlenius
BACKGROUND: Systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS) are autoimmune disorders characterized by autoantibodies, dysregulated B cells, and notably high female-to-male incidence ratios. Genome-wide association studies have identified several susceptibility SNPs for both diseases. Many SNPs in the genome are expression quantitative trait loci (eQTLs), with context-dependent effects. Assuming that sex is a biological context, we investigated whether SLE/pSS SNPs act as eQTLs in B cells and used a disease-targeted approach to understand if they display sex-specific effects...
October 25, 2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/29066732/associations-between-genetic-risk-variants-for-kidney-diseases-and-kidney-disease-etiology
#17
Sebastian Wunnenburger, Ulla T Schultheiss, Gerd Walz, Birgit Hausknecht, Arif B Ekici, Florian Kronenberg, Kai-Uwe Eckardt, Anna Köttgen, Matthias Wuttke
Chronic kidney disease (CKD) is a global health problem with a genetic component. Genome-wide association studies have identified variants associated with specific CKD etiologies, but their genetic overlap has not been well studied. This study examined SNP associations across different CKD etiologies and CKD stages using data from 5,034 CKD patients of the German Chronic Kidney Disease study. In addition to confirming known associations, a systemic lupus erythematosus-associated risk variant at TNXB was also associated with CKD attributed to type 1 diabetes (p = 2...
October 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29066026/cd4-cd28-kir-cd11a-hi-t-cells-correlate-with-disease-activity-and-are-characterized-by-a-pro-inflammatory-epigenetic-and-transcriptional-profile-in-lupus-patients
#18
Elizabeth Gensterblum, Paul Renauer, Patrick Coit, Faith M Strickland, Nathan C Kilian, Shaylynn Miller, Mikhail Ognenovski, Jonathan D Wren, Pei-Suen Tsou, Emily E Lewis, Kathleen Maksimowicz-McKinnon, W Joseph McCune, Bruce C Richardson, Amr H Sawalha
OBJECTIVE: The goal of this study was to comprehensively characterize CD4+CD28+ T cells overexpressing CD11a and KIR genes, and examine the relationship between this T cell subset, genetic risk, and disease activity in lupus. METHODS: The size of the CD4+CD28+KIR+CD11a(hi) T cell subset was determined by flow cytometry, and total genetic risk for lupus was calculated in 105 female patients using 43 confirmed genetic susceptibility loci. Primary CD4+CD28+KIR+CD11a(hi) T cells were isolated from lupus patients or were induced from healthy individuals using 5-azacytidine...
October 20, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29062654/autoimmune-syndrome-induced-by-adjuvants-asia-after-silicone-breast-augmentation-surgery
#19
Daniel Nunes E Silva, Cíntia Gründler, Maria das Graças de Melo Teixeira Spengler, Alex Magno Coelho Horimoto, Mariana Albuquerque Machado, Isadora Carvalho Frazão, Luiz Carlos Takita
Generally, the main complications of silicone implantation are local symptoms. However, some patients develop late-onset systemic symptoms often associated with a rare form of hyperactive immune response, as part of a syndrome known as autoimmune syndrome induced by adjuvants (ASIA). Reported cases of ASIA have shown resolution with explantation, but not with immunomodulatory therapy. In this report, we described a case of a previously healthy 23-year-old woman, who has undergone silicone breast implant augmentation, for aesthetic reasons, and developed localized cutaneous impairment 3 years postsurgery...
September 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/29059182/profiling-rna-seq-at-multiple-resolutions-markedly-increases-the-number-of-causal-eqtls-in-autoimmune-disease
#20
Christopher A Odhams, Deborah S Cunninghame Graham, Timothy J Vyse
Genome-wide association studies have identified hundreds of risk loci for autoimmune disease, yet only a minority (~25%) share genetic effects with changes to gene expression (eQTLs) in immune cells. RNA-Seq based quantification at whole-gene resolution, where abundance is estimated by culminating expression of all transcripts or exons of the same gene, is likely to account for this observed lack of colocalisation as subtle isoform switches and expression variation in independent exons can be concealed. We performed integrative cis-eQTL analysis using association statistics from twenty autoimmune diseases (560 independent loci) and RNA-Seq data from 373 individuals of the Geuvadis cohort profiled at gene-, isoform-, exon-, junction-, and intron-level resolution in lymphoblastoid cell lines...
October 2017: PLoS Genetics
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