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SLE genetics

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https://www.readbyqxmd.com/read/29028840/polymorphism-of-keratin-1-associates-with-systemic-lupus-erythematosus-and-systemic-sclerosis-in-a-south-chinese-population
#1
Weiguang Luo, Bin Zhou, Qizhi Luo, Huilong Fang, Xiaoxia Zuo, Yizhou Zou
Both systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) diseases are related to the genetic and environmental factors, causing damage to the skin. The mutations of keratin 1 gene (KRT1) were reported to associate with skin diseases. The single-nucleotide polymorphism (SNP, rs14024) and the indel polymorphism (cds-indel, rs267607656), consisting mostly of the common haplotypes and could be used for genotyping of KRT1. We used the PCR with sequence specific primers (PCR-SSP) to determine the genotype of KRT1 in 164 SLE, 99 SSc patients, and 418 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/29021840/vaccination-and-autoimmune-diseases-is-prevention-of-adverse-health-effects-on-the-horizon
#2
REVIEW
Maria Vadalà, Dimitri Poddighe, Carmen Laurino, Beniamino Palmieri
Autoimmune diseases, including multiple sclerosis and type 1 diabetes mellitus, affect about 5% of the worldwide population. In the last decade, reports have accumulated on various autoimmune disorders, such as idiopathic thrombocytopenia purpura, myopericarditis, primary ovarian failure, and systemic lupus erythematosus (SLE), following vaccination. In this review, we discuss the possible underlying mechanisms of autoimmune reactions following vaccinations and review cases of autoimmune diseases that have been correlated with vaccination...
September 2017: EPMA Journal
https://www.readbyqxmd.com/read/28990435/ptpn22-1858c%C3%A2-%C3%A2-t-polymorphism-and-susceptibility-to-systemic-lupus-erythematosus-a-meta-analysis-update
#3
Suelen Cristina de Lima, José Eduardo Adelino, Sergio Crovella, Jaqueline de Azevedo Silva, Paula Sandrin-Garcia
Studies performed in the past years showed PTNP22 1858 C > T (rs2476601) polymorphism as associated with systemic lupus erythematosus susceptibility, although conflicting findings are still found. In this context, a powerful statistical study, such as meta-analysis, is necessary to establish a consensus. The aim of this study was to evaluate association studies between the PTPN22 1858 C > T polymorphism and SLE by a meta-analysis update, including three recently published studies in the last three years...
October 8, 2017: Autoimmunity
https://www.readbyqxmd.com/read/28984075/association-of-glucocorticoid-receptor-gene-polymorphisms-with-systemic-lupus-erythematosus-in-a-chinese-population
#4
Yang-Fan Chen, Jian-Hua Xu, Yan-Feng Zou, Li Lian, Fen Wang, Shan-Yu Chen, Jing Cai, Mu Li
OBJECTIVES: To identify the association of glucocorticoid receptor (GR) gene polymorphism with systemic lupus erythematosus (SLE). METHODS: A case-control study was carried out, in which 400 Chinese patients with SLE and 400 normal people were enrolled. DNA was extracted using a genomic DNA extraction kit, and tagged single nucleotide polymorphisms (SNPs) were identified by Haploview (4.0) Project from the Chinese HapMap Project. Eighteen tagged SNPs of the GR gene were genotyped by the Multiplex SNaPshot technique...
October 6, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28983873/updates-in-lupus-genetics
#5
REVIEW
Yun Deng, Betty P Tsao
PURPOSE OF REVIEW: Our understanding on genetic basis of SLE has been advanced through genome-wide association studies. We review recent progress in lupus genetics with a focus on SLE-associated loci that have been functionally characterized, and discuss the potential for clinical translation of genetics data. RECENT FINDINGS: Over 100 loci have been confirmed to show robust association with SLE and many share with other immune-mediated diseases. Although causative variants captured at these established loci are limited, they guide biological studies of gene targets for functional characterization which highlight the importance of aberrant recognition of self-nucleic acid, type I interferon overproduction, and defective immune cell signaling underlying the pathogenesis of SLE...
October 5, 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28968809/the-worldwide-incidence-and-prevalence-of-systemic-lupus-erythematosus-a-systematic-review-of-epidemiological-studies
#6
Frances Rees, Michael Doherty, Matthew J Grainge, Peter Lanyon, Weiya Zhang
Objectives: The aim was to review the worldwide incidence and prevalence of SLE and variation with age, sex, ethnicity and time. Methods: A systematic search of MEDLINE and EMBASE search engines was carried out using Medical Subject Headings and keyword search terms for Systemic Lupus Erythematosus combined with incidence, prevalence and epidemiology in August 2013 and updated in September 2016. Author, journal, year of publication, country, region, case-finding method, study period, number of incident or prevalent cases, incidence (per 100 000 person-years) or prevalence (per 100 000 persons) and age, sex or ethnic group-specific incidence or prevalence were collected...
August 9, 2017: Rheumatology
https://www.readbyqxmd.com/read/28937057/outcome-of-childhood-lupus-nephritis-in-saudi-children
#7
Sulaiman Mohammed Al-Mayouf, Ali AlAmeer, Areej Alfattani, Abdullah Alsonbul
Our aim in this study is to report the long-term renal outcome of a cohort of Saudi children with systemic lupus erythematosus (SLE). All patients with childhood lupus nephritis (cLN) proved by renal biopsy seen between January 2000 and June 2015 were reviewed. The renal outcome was assessed according to serum creatinine level, protein/creatinine ratio at the last follow-up visit, and/or evidence of renal impairment during follow-up period and end-stage renal disease (ESRD). Additional outcome measures include accrual damage measured by pediatric adaptation of the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (pSDI), and death related to SLE was determined...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28933339/incidence-and-outcome-of-lupus-nephritis-in-french-polynesia%C3%A2
#8
Antoine Delarche, Catherine Lumbroso, Alain Fournier, Ronan Delaval, Jacques Pourrat, Pascale Testevuide, Sylvie Leou, Christophe Cordonnier, Dominique Chauveau, Stanislas Faguer
OBJECTIVE: Outcomes of systemic lupus erythematosus (SLE) and lupus nephritis (LN) are highly heterogeneous among some populations because of interactions between genetic, epigenetic, environmental, and socioeconomic factors. A better characterization of social and ethnic disparities in mixed populations may thus help to develop individualized treatment regimens. MATERIALS AND METHODS: Retrospective observational study including all patients with LN diagnosed between January 1993 and January 2014 in the only Nephrology Department of French Polynesia...
September 21, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28924537/inherited-thrombophilias-could-influence-the-reproductive-outcome-in-women-with-systemic-lupus-erythematosus
#9
R Robeva, D Tanev, S Andonova, M Nikolova, A Tomova, Ph Kumanov, A Savov, R Rashkov, Zl Kolarov
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with different reproductive complications in the affected women. Inherited thrombophilias are genetic factors increasing the risk for thromboembolism and recurrent pregnancy loss, but their influence on other reproductive disturbances in SLE patients has not been completely clarified. Two hundred and twenty-three Caucasian women (112 with SLE and 111 controls) were included in the study. Complete reproductive history of all SLE patients was carefully obtained...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28914367/no-association-of-single-nucleotide-polymorphisms-within-h19-and-hox-transcript-antisense-rna-hotair-with-genetic-susceptibility-to-systemic-lupus-erythematosus-rheumatoid-arthritis-and-primary-sj%C3%A3-gren-s-syndrome-in-a-chinese-han-population
#10
An-Fang Huang, Lin-Chong Su, Hong Jia, Yi Liu, Wang-Dong Xu
The H19 (rs2839698, rs3741219) and HOTAIR (rs920778) polymorphisms were related to many kinds of cancers. However, these polymorphisms have been scarcely explored in different autoimmune diseases. Here, we aimed to examine the association of the polymorphisms with susceptibility to or protection against systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and primary Sjögren's syndrome (pSS) among Chinese Han patients. We conducted a case-control study including 800 patients (300 with SLE, 350 with RA, and 150 with pSS) and 350 healthy control individuals...
November 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28905254/use-of-eculizumab-in-a-systemic-lupus-erythemathosus-patient-presenting-thrombotic-microangiopathy-and-heterozygous-deletion-in-cfhr1-cfhr3-a-case-report-and-systematic-review
#11
REVIEW
Maria Izabel de Holanda, Luis Cristóvão Pôrto, Teresa Wagner, Luis Fernando Christiani, Lilian M P Palma
The association of thrombotic microangiopathy (TMA) with systemic lupus erythematosus (SLE) has been described in 0.5 to 10% of cases, and patients present worse outcome. TMA is described as the association of microangiopathic hemolytic anemia, thrombocytopenia, and an organ injury, frequently the kidney. This study describes a successful case of use of eculizumab in a patient with SLE and TMA refractory to standard therapy, and provides a literature review. Case description and search in PubMed and MEDLINE using systemic lupus erythemathous and/or antiphospholipid syndrome (APS) and eculizumab retrieved 15 case reports...
September 13, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28900675/bone-disease-in-connective-tissue%C3%A2-disease-systemic-lupus-erythematosus
#12
REVIEW
Irene E M Bultink
This article reviews recent advances in the research of the mechanisms of bone loss, as well as clinical features, economic impact and therapeutic implications of osteoporosis and fractures in patients with systemic lupus erythematosus (SLE) as an illustration of bone disease in a complex systemic autoimmune connective tissue disease. Recent studies demonstrated an increased incidence of osteoporosis and peripheral and vertebral fractures in patients with SLE. The aetiology of bone loss in SLE is multifactorial, including clinical osteoporosis risk factors, systemic inflammation, serological factors, metabolic factors, hormonal factors, possibly genetic factors and medication-induced adverse effects...
September 12, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28895130/ancestry-informative-marker-panel-to-estimate-population-stratification-using-genome-wide-human-array
#13
Fernanda B Barbosa, Natalia F Cagnin, Milena Simioni, Allysson A Farias, Fábio R Torres, Miriam C Molck, Tânia K Araujo, Vera L Gil-Da-Silva-Lopes, Eduardo A Donadi, Aguinaldo L Simões
Case-control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work was to select a set of AIMs to estimate population stratification in a Brazilian case-control study performed using a genome-wide array. A total of 345 single nucleotide polymorphism (SNP) AIMs, selected from the Cytoscan HD array and based on previously reported panels, was used to discriminate between European, African, and Amerindian populations...
September 11, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28882929/rhob-blockade-selectively-inhibits-autoantibody-production-in-autoimmune-models-of-rheumatoid-arthritis-and-lupus
#14
Laura Mandik-Nayak, James B DuHadaway, Jennifer Mulgrew, Elizabeth Pigott, Kaylend Manley, Summer Sedano, George C Prendergast, Lisa D Laury-Kleintop
During the development of autoimmune disease, a switch occurs in the antibody repertoire of B cells favoring the production of pathogenic versus non-pathogenic autoantibodies. However, there is limited knowledge concerning how this pivotal step occurs. Here we present genetic and pharmacological evidence of a positive modifier function for the vesicular small GTPase RhoB in specifically mediating the generation of pathogenic autoantibodies and disease progression in the K/BxN preclinical model of inflammatory arthritis...
September 7, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28879482/pristane-induced-lupus-considerations-on-this-experimental-model
#15
Eduarda Correa Freitas, Mayara Souza de Oliveira, Odirlei André Monticielo
Systemic lupus erythematosus (SLE) is a multifactorial, autoimmune inflammatory disease with pleomorphic clinical manifestations involving different organs and tissues. The etiology of this disease has been associated with a dysfunctional response of B and T lymphocytes against environmental stimuli in individuals genetically susceptible to SLE, which determines an immune response against different autoantigens and, consequently, tissue damage. The study of different murine models has provided a better understanding of these autoimmune phenomena...
November 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28839322/breast-cancer-in-a-patient-with-kindlers-syndrome
#16
Itrat Mehdi, Bassim Jaffar Al Bahrani, Taha Mohsin Al Lawati, Zahid Al Mandhari, Fatima Ramadhan Al Lawati
Breast Cancer (BC) has associated risk factors and genetic factors like BRCA1, and BRCA2. Many benign and malignant disease processes are found concurrently with BC and believed to be additional risk factors like gall bladder stones (cholelithiasis), hypertension, diabetes mellitus, cerebrovascular lesions, arthritis, spine and spinal cord degenerative lesions, infertility, depression, sleep disturbances, obesity, autoimmune diseases (SLE), and thyroid diseases. There are some malignant disease associations like synchronous or metachronous ovarian, colonic and endometrial tumours with Breast cancer...
August 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28827978/defining-biological-subsets-in-systemic-lupus-erythematosus-progress-toward-personalized-therapy
#17
Nailú Angélica Sinicato, Mariana Postal, Simone Appenzeller, Timothy B Niewold
Systemic lupus erythematosus (SLE) is a heterogeneous disease with respect to disease severity, response to treatment, and organ damage. The pathogenesis of SLE includes immunological mechanisms which are driven by both genetic and environmental factors. There are clear differences in the pathogenesis of SLE between patients of different ancestral backgrounds, including differences in genetic risk factors, immunological parameters, and clinical manifestations. Patients with high vs. low levels of type I interferon (IFN) in circulation represents one major biological subset within SLE, and these two groups of patients are present in all ancestral backgrounds...
April 2017: Pharmaceutical Medicine
https://www.readbyqxmd.com/read/28818832/b-cell-ox40l-supports-t-follicular-helper-cell-development-and-contributes-to-sle-pathogenesis
#18
Andrea Cortini, Ursula Ellinghaus, Talat H Malik, Deborah S Cunninghame Graham, Marina Botto, Timothy James Vyse
OBJECTIVES: TNFSF4 (encodes OX40L) is a susceptibility locus for systemic lupus erythematosus (SLE). Risk alleles increase TNFSF4 expression in cell lines, but the mechanism linking this effect to disease is unclear, and the OX40L-expressing cell types mediating the risk are not clearly established. Blockade of OX40L has been demonstrated to reduce disease severity in several models of autoimmunity, but not in SLE. We sought to investigate its potential therapeutic role in lupus. METHODS: We used a conditional knockout mouse system to investigate the function of OX40L on B and T lymphocytes in systemic autoimmunity...
August 17, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28801578/basophils-contribute-to-pristane-induced-lupus-like-nephritis-model
#19
Barbara Dema, Yasmine Lamri, Christophe Pellefigues, Emeline Pacreau, Fanny Saidoune, Caroline Bidault, Hajime Karasuyama, Karim Sacré, Eric Daugas, Nicolas Charles
Lupus nephritis (LN), one of the most severe outcomes of systemic lupus erythematosus (SLE), is initiated by glomerular deposition of immune-complexes leading to an inflammatory response and kidney failure. Autoantibodies to nuclear antigens and autoreactive B and T cells are central in SLE pathogenesis. Immune mechanisms amplifying this autoantibody production drive flares of the disease. We previously showed that basophils were contributing to LN development in a spontaneous lupus-like mouse model (constitutive Lyn (-/-) mice) and in SLE subjects through their activation and migration to secondary lymphoid organs (SLOs) where they amplify autoantibody production...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28799838/vitamin-d-receptor-gene-foki-polymorphism-in-egyptian-children-and-adolescents-with-sle-a-case-control-study
#20
A A Imam, H E Ibrahim, M A A Farghaly, U M Alkholy, H H Gawish, N Abdalmonem, A M Sherif, Y F Ali, M E Hamed, N M Waked, M M Fathy, A M Khalil, M A Noah, M S Hegab, B R Ibrahim, R M Nabil, L A Fattah
Background Childhood-onset systemic lupus erythematosus (cSLE) is a lifelong autoimmune disorder. The vitamin D receptor (VDR) gene is a potential candidate gene for cSLE susceptibility. In this study, we aimed to investigate the FokI polymorphism in the VDR gene in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a genetic marker for cSLE susceptibility or disease activity and we also measured the serum level of 25-hydroxyvitamin D [25(OH) D] to assess its relation to such polymorphism...
January 1, 2017: Lupus
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