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SLE genetics

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https://www.readbyqxmd.com/read/28433894/a-functional-snp-mcp-1-2518a-g-predispose-to-renal-disorder-in-indian-systemic-lupus-erythematosus-patients
#1
Vinod D Umare, Vandana D Pradhan, Anjali G Rajadhyaksha, Kanjaksha Ghosh, Anita H Nadkarni
Systemic Lupus Erythematosus (SLE) is a clinically heterogeneous chronic, inflammatory autoimmune disorder that affects multiple organs where exact etiology of the disease is not yet clearly understood. Various evidences suggest that genetic polymorphisms in inflammatory mediators like cytokines and chemokines may influence development of the disease. Here, we investigated whether functional polymorphism at the Monocyte Chemoattractant Protein-1 (MCP-1) regulatory region associates with disease phenotype in Indian SLE patients...
April 20, 2017: Cytokine
https://www.readbyqxmd.com/read/28427360/association-of-novel-polymorphisms-in-tmem39a-gene-with-systemic-lupus-erythematosus-in-a-chinese-han-population
#2
Xinze Cai, Wenyue Huang, Xudong Liu, Lining Wang, Yi Jiang
BACKGROUND: This study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han population sample. METHODS: We carried out a case-control study of 415 patients with SLE and 470 healthy controls without autoimmune disease or cancer. DNA for genetic analysis was isolated from the blood of all subjects using standard phenol-chloroform method...
April 20, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28421864/selfie-autoimmunity
#3
Haseeb Ahsan
The immune system provides protection to tissues damaged by infectious microrganisms or physical damage. In autoimmune diseases, the immune system recognizes and attacks its own tissues i.e., self-destruction. Various agents such as genetic factors and environmental triggers are thought to play a major role in the development of autoimmune diseases. A common feature of all autoimmune diseases is the presence of autoantibodies and inflammation, including mononuclear phagocytes, autoreactive T lymphocytes and autoantibody producing B cells (plasma cells)...
April 19, 2017: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/28412046/the-epigenetic-mechanism-for-discordance-of-autoimmunity-in-monozygotic-twins
#4
REVIEW
Zhongyuan Xiang, Yuanqing Yang, Christopher Chang, Qianjin Lu
Monozygotic twins share an identical DNA sequence but are not truly "identical". In fact, when it comes to health and disease, they may often display some level of phenotypic discordance. The cause of this discordance is often unknown. Epigenetic modifications such as DNA methylation, histone modification, and microRNAs-mediated regulation regulate gene expression and are sensitive to external stimuli. These modifications may be seen to bridge the gap between genetics and the environment. Over the years, the importance of epigenetics as a primary mechanism for the role that the environment plays in defining phenotype has been increasingly appreciated...
April 12, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28403670/genetic-variants-in-fh-are-associated-with-renal-histopathologic-subtypes-of-lupus-nephritis-a-large-cohort-study-from-china
#5
M Tan, J-B Hao, H Chu, F-M Wang, D Song, L Zhu, F Yu, Y-Z Li, Y Song, M-H Zhao
Objective Genetic variants in FH (complement factor H) were reported to associate with susceptibility to systemic lupus erythematosus (SLE). This study proposed that the genetic defects of FH in the susceptibility and in the development of lupus nephritis might be different. Methods This study enrolled 334 lupus nephritis patients, 269 SLE patients without clinical renal involvement and 350 controls. Two-step genotyping was performed. First, all the exons of the FH gene were fully sequenced in 100 lupus nephritis patients and 100 healthy controls...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28401431/sustained-immunosuppression-alters-olfactory-function-in-the-mrl-model-of-cns-lupus
#6
Minesh Kapadia, Hui Zhao, Donglai Ma, Boris Sakic
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is frequently accompanied by diverse neuropsychiatric manifestations. An increased frequency of olfactory deficits has been recently reported as another marker of CNS involvement in SLE patients. Similarly, we observed that spontaneous development of lupus-like disease in MRL/lpr mice is accompanied by altered olfaction-related behaviors. However, it remained unclear whether the behavioral deficits are due to systemic autoimmunity, or the distinct genetic make-up...
April 11, 2017: Journal of Neuroimmune Pharmacology: the Official Journal of the Society on NeuroImmune Pharmacology
https://www.readbyqxmd.com/read/28382783/risk-of-allergic-conditions-in-children-born-to-women-with-systemic-lupus-erythematosus
#7
Julie Couture, Moshe Ben-Shoshan, Christian A Pineau, Susan Scott, Ann E Clarke, Sasha Bernatsky, Evelyne Vinet
OBJECTIVE: Limited evidence suggests a potentially increased risk of allergic conditions in offspring born to women with systemic lupus erythematosus (SLE). In a large population-based study, we aimed to determine if children born to SLE mothers have an increased risk of allergic conditions compared to 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 allergic conditions (including asthma, allergic rhinitis, eczema, urticaria, angioedema, and anaphylaxis) based on ≥1 hospitalization or ≥1 or 2 physician(s) visit(s) with a relevant diagnostic code...
April 6, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28375453/pathways-leading-to-an-immunological-disease-systemic-lupus-erythematosus
#8
Olga Zharkova, Teja Celhar, Petra D Cravens, Anne B Satterthwaite, Anna-Marie Fairhurst, Laurie S Davis
SLE is a chronic autoimmune disease caused by perturbations of the immune system. The clinical presentation is heterogeneous, largely because of the multiple genetic and environmental factors that contribute to disease initiation and progression. Over the last 60 years, there have been a number of significant leaps in our understanding of the immunological mechanisms driving disease processes. We now know that multiple leucocyte subsets, together with inflammatory cytokines, chemokines and regulatory mediators that are normally involved in host protection from invading pathogens, contribute to the inflammatory events leading to tissue destruction and organ failure...
April 1, 2017: Rheumatology
https://www.readbyqxmd.com/read/28339495/microrna-expression-profiles-identify-disease-specific-alterations-in-systemic-lupus-erythematosus-and-primary-sj%C3%A3-gren-s-syndrome
#9
Ji-Qing Chen, Gábor Papp, Szilárd Póliska, Krisztina Szabó, Tünde Tarr, Bálint László Bálint, Péter Szodoray, Margit Zeher
The discovery of microRNAs (miRNAs) and their critical role in genetic control opened new avenues in understanding of various biological processes including immune cell lineage commitment, differentiation, proliferation and apoptosis. However, a given miRNA may have hundreds of different mRNA targets and a target might be regulated by multiple miRNAs, thus the characterisation of dysregulated miRNA expression profiles could give a better insight into the development of immunological disturbances in autoimmune diseases...
2017: PloS One
https://www.readbyqxmd.com/read/28298568/comparison-of-disease-characteristics-organ-damage-and-survival-in-patients-with-juvenile-onset-and-adult-onset-systemic-lupus-erythematosus-in-a-combined-cohort-from-2-tertiary-centers-in-turkey
#10
Bahar Artim-Esen, Sezgin Şahin, Erhan Çene, Yasemin Şahinkaya, Kenan Barut, Amra Adrovic, Yasemin Özlük, Işın Kılıçaslan, Ahmet Omma, Ahmet Gül, Lale Öcal, Özgür Kasapçopur, Murat İnanç
OBJECTIVE: Age at onset has been shown to affect the clinical course and outcome of systemic lupus erythematosus (SLE). Herein, we aimed to define the differences in clinical characteristics, organ damage, and survival between patients with juvenile-onset (jSLE) and adult-onset SLE (aSLE). METHODS: For the study, 719 patients (76.9%) with aSLE and 216 (23.1%) with jSLE were examined. Comparisons between the groups were made for demographic characteristics, clinical features, autoantibody profiles, damage, and survival rates...
March 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28263189/cd11b-activation-suppresses-tlr-dependent-inflammation-and-autoimmunity-in-systemic-lupus-erythematosus
#11
Mohd Hafeez Faridi, Samia Q Khan, Wenpu Zhao, Ha Won Lee, Mehmet M Altintas, Kun Zhang, Vinay Kumar, Andrew R Armstrong, Carmelo Carmona-Rivera, Jessica M Dorschner, Abigail M Schnaith, Xiaobo Li, Yogita Ghodke-Puranik, Erica Moore, Monica Purmalek, Jorge Irizarry-Caro, Tingting Zhang, Rachael Day, Darren Stoub, Victoria Hoffmann, Shehryar Jehangir Khaliqdina, Prachal Bhargava, Ana M Santander, Marta Torroella-Kouri, Biju Issac, David J Cimbaluk, Andrew Zloza, Rajeev Prabhakar, Shashank Deep, Meenakshi Jolly, Kwi Hye Koh, Jonathan S Reichner, Elizabeth M Bradshaw, JianFeng Chen, Luis F Moita, Peter S Yuen, Wanxia Li Tsai, Bhupinder Singh, Jochen Reiser, Swapan K Nath, Timothy B Niewold, Roberto I Vazquez-Padron, Mariana J Kaplan, Vineet Gupta
Genetic variations in the ITGAM gene (encoding CD11b) strongly associate with risk for systemic lupus erythematosus (SLE). Here we have shown that 3 nonsynonymous ITGAM variants that produce defective CD11b associate with elevated levels of type I interferon (IFN-I) in lupus, suggesting a direct link between reduced CD11b activity and the chronically increased inflammatory status in patients. Treatment with the small-molecule CD11b agonist LA1 led to partial integrin activation, reduced IFN-I responses in WT but not CD11b-deficient mice, and protected lupus-prone MRL/Lpr mice from end-organ injury...
April 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28246883/novel-linkage-disequilibrium-clustering-algorithm-identifies-new-lupus-genes-on-meta-analysis-of-gwas-datasets
#12
Mohammad Saeed
Systemic lupus erythematosus (SLE) is a complex disorder. Genetic association studies of complex disorders suffer from the following three major issues: phenotypic heterogeneity, false positive (type I error), and false negative (type II error) results. Hence, genes with low to moderate effects are missed in standard analyses, especially after statistical corrections. OASIS is a novel linkage disequilibrium clustering algorithm that can potentially address false positives and negatives in genome-wide association studies (GWAS) of complex disorders such as SLE...
February 28, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28244652/association-of-leptin-and-leptin-receptor-gene-polymorphisms-with-systemic-lupus-erythematosus-in-a-chinese-population
#13
Hong-Miao Li, Tian-Ping Zhang, Rui-Xue Leng, Xiang-Pei Li, De-Guang Wang, Xiao-Mei Li, Dong-Qing Ye, Hai-Feng Pan
To explore the association of LEP and leptin receptor (LEPR) gene single-nucleotide polymorphisms (SNPs) with susceptibility to systemic lupus erythematosus (SLE) in a Chinese population. Four LEP SNPs (rs11761556, rs12706832, rs2071045 and rs2167270) and nine LEPR SNPs (rs10749754, rs1137100, rs1137101, rs13306519, rs8179183, rs1805096, rs3790434, rs3806318 and rs7518632) were genotyped in a cohort of 633 patients with SLE and 559 healthy controls. Genotyping of SNPs was performed with improved multiple ligase detection reaction (iMLDR)...
February 28, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28229285/topics-on-vitamin-d-in-systemic-lupus-erythematosus-analysis-of-evidence-and-critical-literature-review
#14
António Marinho, Mariana Taveira, Carlos Vasconcelos
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multiorgan inflammation, linked to the loss of immune tolerance to self-antigens and the production of a diversity of autoantibodies. The phenotype and progression of SLE have been linked to a combination of environmental, genetic, and hormonal factors. One such environmental factor is vitamin D, a vital hormone with well-established effects on mineral metabolism, skeletal health, and effects on cardiovascular system. The purpose of this article is to make the analysis of evidence and literature review of the pleomorphic effects of Vitamin D in SLE...
February 22, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28212922/organ-specific-biomarkers-in-lupus
#15
REVIEW
Haijing Wu, Jinrong Zeng, Jinghua Yin, Qiao Peng, Ming Zhao, Qianjin Lu
Systemic lupus erythematosus (SLE) is a complex and highly heterogeneous disease, which affects multiple organs, including joints, skin, kidneys, heart, hematopoietic system, and nerve system. While the etiopathogenesis of SLE still remains unclear, genetic susceptibilities and aberrant epigenetic modifications are believed to be involved. For precision therapy, it is necessary to assess accurately and objectively organ involvements and disease activity, which is difficult by current clinical laboratory tests...
April 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28198159/meta-analysis-of-associations-between-xrcc1-gene-polymorphisms-and-susceptibility-to-systemic-lupus-erythematosus-and-rheumatoid-arthritis
#16
Ming-Yue Zhang, Xiao-Ke Yang, Tian-Tian Lv, Jun Wu, Shu-Zhen Xu, Jie-Bing Wang, Hai-Feng Pan, Dong-Qing Ye
OBJECTIVE: To determine whether X-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms confer susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). A meta-analysis was conducted to determine the associations between XRCC1 gene polymorphisms and susceptibility to SLE and RA. METHODS: A systematic literature search was conducted to identify all relevant studies. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the strength of the association...
February 15, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28185859/association-of-irf5-polymorphisms-with-increased-risk-for-systemic-lupus-erythematosus-in-population-of-crete-a-southern-eastern-european-greek-island
#17
M I Zervou, J M Dorschner, Y Ghodke-Puranik, D T Boumpas, T B Niewold, G N Goulielmos
Interferon regulatory factor 5 (IRF5) regulates type I interferon (IFN)-responsive genes, and has been one of the most consistently associated genes with systemic lupus erythematosus (SLE). We sought to investigate whether IRF5 haplotypes are associated with risk for SLE in the genetically homogeneous Greek population of the island of Crete, as well as whether these haplotypes are associated with increased type I IFN. 322 SLE patients and 247 healthy controls from Crete were genotyped for rs2004640, rs3807306, rs10488631 and rs2280714 SNPs of IRF5 gene by using Taqman primer-probe sets...
April 30, 2017: Gene
https://www.readbyqxmd.com/read/28148586/systemic-lupus-erythematosus
#18
Maliha F Shaikh, Natasha Jordan, David P D'Cruz
Systemic lupus erythematosus (SLE) is a chronic multisystem autoimmune disease that is highly heterogeneous in its presentation. This can pose significant challenges for physicians responsible for the diagnosis and treatment of such patients. SLE arises from a combination of genetic, epigenetic and environmental factors. Pathologically, the disease is primarily driven by loss of immune tolerance and abnormal B- and T-cell function. Major organ involvement may lead to significant morbidity and mortality. Classification criteria for SLE have been developed largely for research purposes; however, these are also widely used in clinical practice...
February 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/28144936/multiple-variants-in-5q31-1-are-associated-with-systemic-lupus-erythematosus-susceptibility-and-sub-phenotypes-in-the-han-chinese-population
#19
L Wen, Z Zhu, C Yang, L Liu, X Zuo, D L Morris, J Dou, L Ye, Y Cheng, H Guo, H Huang, Y Lin, C Zhu, L Tang, M Chen, Y Zhou, Y Ding, B Liang, F Zhou, J Gao, X Tang, X Zheng, W Wang, X Yin, H Tang, L Sun, S Yang, X Zhang, Y Sheng, Y Cui
BACKGROUND: A previous study provided evidence for genetic association between PPP2CA on 5q31.1 and systemic lupus erythematosus (SLE) across multi-ancestral cohorts, but failed to find significant evidence for association in the Chinese Han population. OBJECTIVE: To explore the association between this locus and SLE using data from our previously published genome-wide association study (GWAS) of SLE in Han Chinese population. METHODS: SNPs rs7726414 and rs244689 (near TCF7 and PPP2CA in 5q31...
February 1, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28137478/gender-balance-in-patients-with-systemic-lupus-erythematosus
#20
REVIEW
Audrey A Margery-Muir, Christine Bundell, Delia Nelson, David M Groth, John D Wetherall
Factors are reviewed that contribute to the contemporary view of a disproportionate prevalence and incidence of SLE in females. Recent studies on the epidemiology of SLE report that global incidences and prevalences of SLE for Caucasian and Black populations are of the order of 5.5 and 13.1 per year and 81 and 212 per 100,000 persons respectively. Both parameters displayed age dependent variation over a 90-year lifespan. The female to male (F:M) incidence of SLE varied with age, being approximately 1 during the first decade of life, followed by a sharp increase to 9 during the 4th decade, thence declining in subsequent decades before an increase during the 7th or 8th decade...
March 2017: Autoimmunity Reviews
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