Evaluation of polymorphic variants in apoptotic genes and their role in susceptibility and clinical progression to systemic lupus erythematosus.

Abstract:

: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. Methods We analyzed FAS, FASL, BCL-2 and BAX polymorphisms in order to correlate to SLE susceptibility and clinical features. A total of 427 SLE patients from the Hospital de Clínicas de Porto Alegre and 543 controls from southern Brazil were evaluated. Results We observed higher frequencies of the FASL -844CC genotype and -844C allele, as well as of the FASL-844C/IVS2nt-124A haplotype in African-derived SLE patients when compared to controls ( P < 0.001). FASL -844C, which is related to high FasL expression, could contribute to increased apoptosis and to the breakdown of immunological tolerance, favouring autoantibody production and inflammation. On the other hand, the BAX -248GA genotype and the -248A allele , related to low protein expression, were observed as a protective factor against SLE in this same population. The rate of apoptosis and cell death was evaluated in peripheral lymphocytes, and SLE patients presented a higher percentage of dead lymphocytes (CD3+Annexin V+ 7-AAD+) compared to the control group. Conclusion Our data support a role for apoptosis in SLE susceptibility.

journal_name

Lupus

journal_title

Lupus

authors

Glesse N,Vianna P,Paim LMG,Matte MCC,Aguiar AKK,Palhano PL,Monticielo OA,Brenol CV,Xavier RM,Chies JAB

doi

10.1177/0961203316678671

subject

Has Abstract

pub_date

2017-06-01 00:00:00

pages

746-755

issue

7

eissn

0961-2033

issn

1477-0962

pii

0961203316678671

journal_volume

26

pub_type

杂志文章

相关文献

LUPUS文献大全
  • Prognosis of proliferative lupus nephritis subsets in the Louvain Lupus Nephritis inception Cohort.

    abstract:OBJECTIVE:The objective of this paper is to evaluate whether the different International Society of Nephrology/Renal Pathology Society (ISN/RPS) classes of proliferative lupus nephritis (LN) have a distinct baseline presentation, short-term response to immunosuppression (IS) and long-term prognosis. METHODS:Ninety-eig...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203313514623

    authors: Vandepapelière J,Aydin S,Cosyns JP,Depresseux G,Jadoul M,Houssiau FA

    更新日期:2014-02-01 00:00:00

  • Mycophenolate mofetil alleviates lupus nephritis through urokinase receptor signaling in a mice model.

    abstract::Lupus nephritis (LN) is usually associated with widespread effacement of the podocytes' foot processes leading to proteinuria. Induction of urokinase receptor (uPAR) signaling in podocytes leads to foot process effacement and urinary protein loss via promoting podocytes' motility and kidney permeability in the glomeru...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203313480398

    authors: Cheng CC,Lee YF,Lan JL,Wu MJ,Hsieh TY,Lin NN,Wang JM,Chiu YT

    更新日期:2013-05-01 00:00:00

  • The role of endothelial dysfunction in the pathogenesis of neuropsychiatric systemic lupus erythematosus.

    abstract::Neuropsychiatric manifestations of systemic lupus erythematosus are common and disabling yet their pathogenesis is poorly understood. We investigated the role of cerebrovascular endothelial dysfunction in systemic lupus erythematosus and its neuropsychiatric manifestations. Subjects with systemic lupus erythematosus w...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203309359780

    authors: Davey R,Bamford J,Emery P

    更新日期:2010-06-01 00:00:00

  • Rituximab in systemic lupus erythematosus: A systematic review of off-label use in 188 cases.

    abstract::The complexity of the therapeutic approach in systemic lupus erythematosus (SLE) is increased by the large number of patients who do not respond to the first-line therapies and by relapses after initial clinical remission. In these patients, second-line drugs are often prescribed according to individual clinical decis...

    journal_title:Lupus

    pub_type: 杂志文章,评审

    doi:10.1177/0961203309106174

    authors: Ramos-Casals M,Soto MJ,Cuadrado MJ,Khamashta MA

    更新日期:2009-08-01 00:00:00

  • Tumour necrosis factor alpha in systemic lupus erythematosus and anti-DNA autoantibody production.

    abstract::Tumour necrosis factor (TNFalpha) is a cytokine with a wide range of diverse and at times paradoxical effects. These include immunoregulatory, lymphoid organogenesis and pro-inflammatory effects. In recent years, TNFalpha has become a focus of interest more for its inflammatory effects in a number of chronic autoimmun...

    journal_title:Lupus

    pub_type: 杂志文章,评审

    doi:10.1191/0961203302lu306rr

    authors: Mageed RA,Isenberg DA

    更新日期:2002-01-01 00:00:00

  • Tacrolimus is an alternative therapeutic option for the treatment of refractory lupus nephritis.

    abstract::We conducted an open-labeled, prospective study to determine the efficacy and safety of tacrolimus as an alternative therapeutic option for those patients with refractory lupus nephritis. The study population comprised one male and eight female patients with diffuse proliferative lupus nephritis. All patients had fail...

    journal_title:Lupus

    pub_type: 临床试验,杂志文章

    doi:10.1177/0961203310366573

    authors: Lee T,Oh KH,Joo KW,Kim YS,Ahn C,Han JS,Kim S,Chin HJ

    更新日期:2010-07-01 00:00:00

  • Association between TYK2 polymorphisms and susceptibility to autoimmune rheumatic diseases: a meta-analysis.

    abstract:OBJECTIVE:This study aimed to explore whether TYK2 polymorphisms are associated with susceptibility to autoimmune rheumatic diseases. METHODS:We conducted a meta-analysis on the association between TYK2 polymorphisms and autoimmune rheumatic diseases. RESULTS:Twelve studies with a total of 16,335 patients and 30,065 ...

    journal_title:Lupus

    pub_type: 杂志文章,meta分析

    doi:10.1177/0961203316638933

    authors: Lee YH,Bae SC

    更新日期:2016-10-01 00:00:00

  • Elevated BLyS levels in patients with systemic lupus erythematosus: Associated factors and responses to belimumab.

    abstract:INTRODUCTION:Patients with systemic lupus erythematosus (SLE) with B-lymphocyte stimulator (BLyS) levels ≥ 2 ng/mL are at increased risk of flare. A regression analysis was undertaken to identify routine clinical measures that correlate with BLyS ≥ 2 ng/mL. Efficacy and safety of belimumab 10 mg/kg were examined in pat...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203315604909

    authors: Roth DA,Thompson A,Tang Y,Hammer AE,Molta CT,Gordon D

    更新日期:2016-04-01 00:00:00

  • Neurologic manifestations of antiphospholipid syndrome.

    abstract::Neurological involvement in antiphospholipid antibody syndrome (APS) is common, and its occurrence increases morbidity and mortality. Patients may present variable neurological involvement, such as cerebrovascular disease, cognitive dysfunction, headache, seizures, movement disorders, multiple sclerosis-like syndrome,...

    journal_title:Lupus

    pub_type: 杂志文章,评审

    doi:10.1177/0961203318776110

    authors: Ricarte IF,Dutra LA,Abrantes FF,Toso FF,Barsottini OGP,Silva GS,de Souza AWS,Andrade D

    更新日期:2018-08-01 00:00:00

  • Belimumab for systemic lupus erythematosus: a practice-based view.

    abstract::Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder with multiple organ involvement. B-lymphocyte activity plays a pivotal role in the development and course of the disease. A newly developed agent called belimumab has recently been approved to treat active, autoantibody positive SLE as an add-on to st...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203313476154

    authors: Parodis I,Axelsson M,Gunnarsson I

    更新日期:2013-04-01 00:00:00

  • Chylous ascites and podocytopathy as the presentation of childhood lupus-an unusual occurrence.

    abstract::Systemic lupus erythematosus (SLE) is an autoimmune disorder that can affect virtually any organ. Chylous ascites as a presenting manifestation of SLE has been described in a handful of cases in adults. However, to the best of our knowledge this presentation has never been reported in the pediatric age group. Podocyto...

    journal_title:Lupus

    pub_type: 杂志文章,评审

    doi:10.1177/0961203318817831

    authors: Pilania RK,Jindal AK,Sandesh G,Vignesh P,Suri D,Nada R,Singh S

    更新日期:2019-02-01 00:00:00

  • Sugar-free, glycine-stabilized intravenous immunoglobulin prevents skin but not renal disease in the MRL/lpr mouse model of systemic lupus.

    abstract::Intravenous immunoglobulin (IVIG) has a therapeutic potential in many autoimmune diseases. Based on its immune modulating and complement inhibiting effects, IVIG has been tested in systemic lupus erythematosus (SLE), but due to osmotic tubular injury caused by immunoglobulin-stabilizing sugar components, lupus nephrit...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203309355299

    authors: Racz Z,Nagy E,Rosivall L,Szebeni J,Hamar P

    更新日期:2010-04-01 00:00:00

  • Reflections on the management of reproductive failure in the antiphospholipid syndrome--the clinician's perspective.

    abstract::It is well known that women with systemic lupus erythematosus (SLE) who have antiphospholipid antibodies (aPL) are at increased risk for pregnancy loss. Additionally, other reproductive processes, such as unexplained infertility and implantation failure after in vitro fertilization and embryo transfer may be affected ...

    journal_title:Lupus

    pub_type: 杂志文章,评审

    doi:10.1191/0961203302lu237ra

    authors: Balasch J,Cervera R

    更新日期:2002-01-01 00:00:00

  • Prevention of recurrent miscarriage in women with antiphospholipid syndrome: A systematic review and network meta-analysis.

    abstract:OBJECTIVES:To compare and rank currently available pharmacological interventions for the prevention of recurrent miscarriage (RM) in women with antiphospholipid syndrome (APS). METHODS:A search was performed using PubMed, Embase, the Cochrane Central Register of Controlled Trials, Web of Science, CNKI, ClinicalTrials....

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203320967097

    authors: Yang Z,Shen X,Zhou C,Wang M,Liu Y,Zhou L

    更新日期:2021-01-01 00:00:00

  • Headaches in patients with systemic lupus erythematosus: a comparative study.

    abstract::The incidence and nature of headaches in 85 systemic lupus erythematosus (SLE) patients attending an outpatient clinic were studied and compared to those experienced by 61 nurses. The two groups were similar in age, sex and ethnicity. Test-retest assessment of reliability gave both groups 95% confidence limits of 0.09...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1191/0961203304lu1050oa

    authors: Whitelaw DA,Hugo F,Spangenberg JJ,Rickman R

    更新日期:2004-01-01 00:00:00

  • Genetic selection pressure in TLR9 gene may enforce risk for SLE in Indian Tamils.

    abstract::Objectives Lupus is a classical systemic autoimmune disease with genetics as one of the well known causative factors for the disease pathogenesis. Toll-like receptors are the major pattern recognition receptors associated with innate immunity and also act as an interface with the adaptive immunity. Genetic polymorphis...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203316659151

    authors: Yusuf JH,Kaliyaperumal D,Jayaraman M,Ramanathan G,Devaraju P

    更新日期:2017-03-01 00:00:00

  • Infections in outpatients with systemic lupus erythematosus: a prospective study.

    abstract::The objective of this study was to assess the incidence and risk factors of infections in 200 SLE outpatients. All outpatients with active or inactive SLE without infections in the previous month were included. They were assessed every 3 months. Major infections were those requiring hospitalization and parental antibi...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1191/096120301678416088

    authors: Zonana-Nacach A,Camargo-Coronel A,Yañez P,Sánchez L,Jimenez-Balderas FJ,Fraga A

    更新日期:2001-01-01 00:00:00

  • Entheseal involvement in systemic lupus erythematosus: are we missing something?

    abstract::Background Musculoskeletal involvement is extremely common in patients with systemic lupus erythematosus (SLE). Continuing the research initiated in patients with inflammatory arthritis, recent studies have shown the potential role of musculoskeletal ultrasound (MSUS) in the evaluation of clinical and subclinical lupu...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203316662723

    authors: Di Matteo A,Satulu I,Di Carlo M,Lato V,Filippucci E,Grassi W

    更新日期:2017-03-01 00:00:00

  • Antimalarial-induced cardiomyopathy: a systematic review of the literature.

    abstract::Background Antimalarials (AMs) are widely used in the treatment of connective tissue diseases. Their main side effect is retinal damage, while heart disease has been described in isolated cases. The aim of this study is to systematically review the existing literature on AM-induced cardiomyopathy (AMIC). Methods The P...

    journal_title:Lupus

    pub_type: 杂志文章,评审

    doi:10.1177/0961203317734922

    authors: Tselios K,Deeb M,Gladman DD,Harvey P,Urowitz MB

    更新日期:2018-04-01 00:00:00

  • Autoantibodies to topoisomerase I in a patient with systemic lupus erythematosus without features of scleroderma.

    abstract::We report a woman with systemic lupus erythematosus (SLE) with diffuse proliferative glomerulonephritis and anti-dsDNA antibodies whose serum contained autoantibodies specific for the phosphorylated form of RNA polymerase II (RNAP IIO), Su and ribosomal P antigen, as well as anti-topoisomerase I antibodies, a marker f...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/096120339500400414

    authors: Stojanov L,Satoh M,Dooley MA,Kuwana M,Jennette JC,Reeves WH

    更新日期:1995-08-01 00:00:00

  • Striking alteration of some populations of T/B cells in systemic lupus erythematosus: relationship to expression of CD62L or some chemokine receptors.

    abstract::Recent studies have revealed new populations of T/B cells, including central/effector memory, follicular T cells and CXCR3+ or CXCR4+ B cells. In the present study, changes in these populations of CD4+ T cells were examined on the basis of the expression of CD62L, CCR7 and CXCR5 in patients with systemic lupus erythem...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203307085246

    authors: Watanabe T,Suzuki J,Mitsuo A,Nakano S,Tamayama Y,Katagiri A,Amano H,Morimoto S,Tokano Y,Takasaki Y

    更新日期:2008-01-01 00:00:00

  • Effect of low-dose cyclosporine A in the treatment of refractory proteinuria in childhood-onset lupus nephritis.

    abstract::We performed a prospective study to evaluate the efficacy and safety of low-dose cyclosporine A (CSA) treatment in paediatric lupus nephritis refractory to conventional therapy. Seven children with biopsy-proven Class III-IV lupus nephritis were treated with CSA (2-4 mg/kg/day) combined with low-dose prednisone for on...

    journal_title:Lupus

    pub_type: 临床试验,杂志文章

    doi:10.1191/0961203306lu2312oa

    authors: Baca V,Catalán T,Villasís-Keever M,Ramón G,Morales AM,Rodríguez-Leyva F

    更新日期:2006-01-01 00:00:00

  • Risk of complications of ultrasound-guided renal biopsy for adult and pediatric patients with systemic lupus erythematosus.

    abstract::Objective The objective of this paper is to identify the risk of complications of real-time ultrasound-guided renal biopsy in adult and pediatric patients with systemic lupus erythematosus (SLE). Materials and methods This retrospective study examined outcomes of 296 renal biopsy procedures in 275 SLE patients. Imagin...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203317751048

    authors: Sun YS,Sun IT,Wang HK,Yang AH,Tsai CY,Huang CJ,Huang DF,Lai CC

    更新日期:2018-04-01 00:00:00

  • Cerebral blood flow abnormalities in neuropsychiatric systemic lupus erythematosus.

    abstract:OBJECTIVE:To investigate the clinical characteristics, imaging changes and early diagnostic methods of neuropsychiatric systemic lupus erythematosus (NPSLE). METHODS:Thirty-five SLE patients, of which 16 had overt neuropsychiatric symptoms, underwent examination for multiple autoantibodies, including anti-double-stran...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203319861677

    authors: Jia J,Xie J,Li H,Wei H,Li X,Hu J,Meng D,Zhang Y,Zhang X

    更新日期:2019-08-01 00:00:00

  • Cardio-pulmonary involvement in juvenile systemic lupus erythematosus.

    abstract::Cardio-pulmonary manifestations of systemic lupus erythematosus (SLE) are well recognized in adults. We report the occurrence of clinically significant cardio-pulmonary disease in a cohort of predominantly Caucasian children with SLE. All children with SLE attending the Royal Liverpool Children's NHS Trust between 199...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1191/0961203305lu2073oa

    authors: Beresford MW,Cleary AG,Sills JA,Couriel J,Davidson JE

    更新日期:2005-01-01 00:00:00

  • Association of Asian ethnicity with disease activity in SLE: an observational study from the Monash Lupus Clinic.

    abstract:OBJECTIVE:Systemic lupus erythematosus (SLE), an autoimmune condition with diverse clinical manifestations, is reported to have different expression in populations of different ancestry. Most previous studies compared patients of different ethnic groups from geographically distinct cohorts. In our study, we aimed to ch...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203313500547

    authors: Golder V,Connelly K,Staples M,Morand E,Hoi A

    更新日期:2013-11-01 00:00:00

  • Synthetic CpG oligodeoxynucleotides accelerate the development of lupus nephritis during preactive phase in NZB x NZWF1 mice.

    abstract::The effect of synthetic CpG-oligodeoxynucleotides (CpG-ODN) on the development of lupus nephritis during preactive phase (within seven months of age) in autoimmune lupus NZB x NZWF1 (B/WF1) mice was examined. Treatment of CpG-ODN was started at the age of 2.75 months and continued until 6.25 months. Overt disease bega...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1191/0961203303lu483oa

    authors: Hasegawa K,Hayashi T

    更新日期:2003-01-01 00:00:00

  • Primigravida is associated with flare in women with systemic lupus erythematosus.

    abstract::The objective of this study was to identify risk factors associated with flare during pregnancy in women with systemic lupus erythematosus (SLE). We performed a retrospective analysis of pregnant women with SLE in a referral hospital. Flare was considered according to predetermined definitions. We analyzed 15 clinical...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203314552116

    authors: Saavedra MA,Sánchez A,Morales S,Navarro-Zarza JE,Ángeles U,Jara LJ

    更新日期:2015-02-01 00:00:00

  • Infliximab-induced discoid lupus erythematosus.

    abstract::Anti-tumor necrosis factor-alpha (TNF-α) immunotherapy is currently used in the treatment of various inflammatory diseases such as rheumatoid arthritis, psoriasis, psoriatic arthritis, ankylosing spondylitis and Crohn's disease. Infliximab is a chimeric monoclonal antibody that binds to transmembrane-bound and soluble...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203313479423

    authors: Cemil BC,Atas H,Canpolat F,Akca Y,Sasmaz R

    更新日期:2013-04-01 00:00:00

  • Induced abortions in women with systemic lupus erythematosus.

    abstract:OBJECTIVES:To determine the rates of induced abortions in women with systemic lupus erythematosus (SLE) compared to women from the general population and assess disease-related predictors of induced abortion in women with SLE. METHODS:We identified women with SLE (15-45 years) and determined the number of induced abor...

    journal_title:Lupus

    pub_type: 杂志文章

    doi:10.1177/0961203320979741

    authors: Venne K,Scott S,Bernatsky S,Vinet E

    更新日期:2020-12-15 00:00:00