Abstract:
:Evidence for genes associated with risk for Type 1 diabetes (T1D) in the extended region of the major histocompatibility complex (MHC) genes is accumulating. The aim of this study was to investigate the association pattern of the extended MHC region with T1D susceptibility to identify effects independent of well established DR/DQ genes. A total of 394 Europid families with T1D were genotyped for the single nucleotide polymorphism (SNP) in the olfactory receptor family 14, subfamily J, member 1 (OR14J1) gene, rs9257691, in the MHC telomeric region. The OR provides "an internal depiction of our external world" through the capture of odorant molecules in the main OR system by several large families of G-protein coupled receptors (GPCR). These receptors transduce and chemosignals into the central nervous system (CNS). This SNP was chosen to identify its association with T1D. Interestingly, OR14J1C allele was significantly associated with T1D that seems to go with DRB1*0401, Χ(2)=10.9, p=0.0003. However, by fixing both genes of DR*0401-DQB1*0302, high risk, the association of T1D with OR14J1C still existed, Χ(2)=7.4, p=0.005. The occurrence of association of the OR14J1C allele with T1D patients with DRB1*401/DQB1*0302 is an independent risk for T1D. As an accumulative report suggests the role of OR in the pathogenesis of diabetic microvascular and other diabetic complications, undoubtedly, this haplotype specific alteration of T1D risk is an independent risk for the disease and can address the promising MHC-linked gene other than DR/DQ. Moreover, there is nothing to hinder for that this might be a signal that identifies the role of OR gene in the pathogenesis of T1D in patients who are prone to diabetic complications.
journal_name
Autoimmun Revjournal_title
Autoimmunity reviewsauthors
Jahromi MMdoi
10.1016/j.autrev.2012.05.001subject
Has Abstractpub_date
2012-12-01 00:00:00pages
270-4issue
2eissn
1568-9972issn
1873-0183pii
S1568-9972(12)00095-Xjournal_volume
12pub_type
杂志文章,评审abstract::Sex and gender differences in disease prevalence, pathogenesis and modulation have been frequently reported. The menstrual cycle represents the opportunity to study the physiological effect of hormonal fluctuations in vivo on the immune function and chronic disease modulation. Reports on the effect of the cycle on imm...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2011.11.023
更新日期:2012-05-01 00:00:00
abstract::The impact of dietary interventions such as specific types of diet or nutritional supplements in rheumatoid arthritis (RA) has been subject to increased attention in recent years. The recognition of the unmet need to better understand the effects of specific dietary interventions on disease outcomes in RA, along with ...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2018.06.007
更新日期:2018-11-01 00:00:00
abstract:AIMS:Oxidation reactions can modify protein activity or specificity. Recently, a novel redox-reactive family of autoantibodies was described, which indicated involvement of altered antibodies (beside altered antigens) into autoimmune reactions. The aim of our study was to determine the binding capacity alterations of e...
journal_title:Autoimmunity reviews
pub_type: 杂志文章
doi:10.1016/j.autrev.2008.04.005
更新日期:2008-07-01 00:00:00
abstract::Effective immune responses require the appropriate activation and differentiation of peripheral CD4(+) T cells. These processes need to be followed by the timely elimination of the responding T cells in order to restore T cell homeostasis. Defects in the appropriate regulation of T cell activation, expansion, and surv...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2008.07.044
更新日期:2009-01-01 00:00:00
abstract::Dendritic cells (DCs) constitute a heterogeneous population of professional antigen presenting cells which are the initiators and key regulators for both immunity and tolerance induction. The significance and impact of DC biology in contemporary immunology and medical research is heightened by the award of the 2011 No...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2012.03.004
更新日期:2012-10-01 00:00:00
abstract::Type 1 diabetes (T1DM) is an autoimmune disease with aberrant immune responses to specific β-cell autoantigens, resulting in insulin deficiency. Children and adolescents with T1DM may also develop organ-specific multiple autoimmunity in the context of APS (autoimmune polyendocrine syndrome) type 1, 2 or 3. The most fr...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2015.05.002
更新日期:2015-09-01 00:00:00
abstract::The ontogenetic development of both the immune and the nervous system entirely depend on external environmental signals that induce a lifelong learning process. The resulting collective immunological knowledge about the external world is transmitted in an epi-genetic fashion to the offspring, but only from the materna...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2008.12.005
更新日期:2009-03-01 00:00:00
abstract:OBJECTIVE:Since characterization of the extent to which particular combinations of autoimmune diseases (ADs) occur in excess of that expected by chance may offer new insights into possible common pathophysiological mechanisms, polyautoimmunity (i.e., ADs co-occurring within patients) in systemic lupus erythematosus (SL...
journal_title:Autoimmunity reviews
pub_type: 杂志文章
doi:10.1016/j.autrev.2009.10.001
更新日期:2010-02-01 00:00:00
abstract::Rheumatoid Arthritis (RA) is a complex systemic autoimmune disease in which various cell types are involved. Among them, neutrophils have been recognized as important players in the onset and the progression of RA. The pathogenic role of neutrophils in RA lies in the alteration of several processes, including increase...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2018.06.006
更新日期:2018-11-01 00:00:00
abstract::Henoch-Schönlein purpura is the most common systemic vasculitis in childhood, characterized by the presence of immunoglobulin A deposits in the small vessels of skin, gastrointestinal tube, joints and kidneys. Although there have been great efforts made in elucidating its pathogenic mechanisms, Henoch-Schönlein purpur...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2013.04.003
更新日期:2013-08-01 00:00:00
abstract::Antineutrophil cytoplasmic antibodies (ANCA) are the serological hallmark of some idiopathic systemic vasculitides, such as granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA) and, to a lesser extent, Churg-Strauss syndrome (CCS), the so-called ANCA-associated vasculitides (AAV). ANCA were first det...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2012.08.008
更新日期:2013-02-01 00:00:00
abstract::The classical view of B cells in the biology of autoimmune responses to infectious and self-antigens (Ag) that they promote immunity primarily by producing antibodies (Ab) is far from being complete. Indeed, studies over the last decade suggest that B cells have extraordinarily diverse functions within the immune syst...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2004.07.035
更新日期:2004-11-01 00:00:00
abstract:BACKGROUND:The gold standard for secondary thromboprophylaxis in APS is long term anticoagulation with vitamin K antagonists (VKAs). Because of their widespread use and potential advantages of directs oral anticoagulants (DOACs) over VKAs, they have been prescribed in APS without definitive evidence of their safety and...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,meta分析
doi:10.1016/j.autrev.2020.102711
更新日期:2021-01-01 00:00:00
abstract::Anti-RNA polymerase III antibodies (ARA) are a specific marker for Systemic Sclerosis (SSc), associated to severe disease with major organ and diffuse cutaneous involvement. In our series, ARA were found in 19 of 216 sera, in 15 cases as isolated antibodies' specificity, with a statistically negative association with ...
journal_title:Autoimmunity reviews
pub_type: 杂志文章
doi:10.1016/j.autrev.2009.02.002
更新日期:2009-06-01 00:00:00
abstract:OBJECTIVE:Toll-like receptor (TLR) 4 (+896 A/G) gene polymorphism has been reported to be associated with susceptibility to giant cell arteritis (GCA) with inconsistent results. To provide a more definitive conclusion, a cumulative meta-analysis of the association of TLR4 (+896 A/G) polymorphism with GCA susceptibility...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,meta分析
doi:10.1016/j.autrev.2011.06.002
更新日期:2011-10-01 00:00:00
abstract::Survivin is a protein functionally important for cell division, apoptosis, and possibly, for micro-RNA biogenesis. It is an established marker of malignant cell transformation. In non-malignant conditions, the unique properties of survivin make it indispensable for homeostasis of the immune system. Indeed, it is requi...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2017.05.016
更新日期:2017-08-01 00:00:00
abstract::The aim of this study is to assess the long-term effectiveness and safety of IL1Ra in Schnitzler syndrome (SchS). Between 2010 and 2012, we performed a nationwide survey among French internal medicine departments to identify SchS patients. We retrospectively analyzed the long-term efficacy and safety of IL1Ra and the ...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,多中心研究
doi:10.1016/j.autrev.2014.08.031
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:Myositis is a heterogeneous group of muscular auto-immune diseases with clinical and pathological criteria that allow the classification of patients into different sub-groups. Inclusion body myositis is the most frequent myositis above fifty years of age. Diagnosing inclusion body myositis requires expertise...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2019.02.003
更新日期:2019-04-01 00:00:00
abstract::Juvenile idiopathic arthritis (JIA), the most common chronic rheumatic disease of childhood, is a clinically heterogeneous group of disorders characterized by chronic inflammatory arthritis. JIA is considered to be an autoimmune disease, which is a result of immune reaction caused or triggered by environmental factors...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2009.11.018
更新日期:2010-03-01 00:00:00
abstract::T cells from patients with SLE produce decreased amounts of interleukin-2 (IL-2), a central cytokine in the regulation of the immune response. We discuss herein the abnormalities underlying IL-2 deficiency in SLE T cells. ...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2005.08.009
更新日期:2006-02-01 00:00:00
abstract::The complement system is profoundly involved in the pathogenesis of acetylcholine receptor (AChR) antibody (Ab) related myasthenia gravis (MG) and its animal model experimental autoimmune myasthenia gravis (EAMG). The most characteristic finding of muscle pathology in both MG and EAMG is the abundance of IgG and compl...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2013.03.003
更新日期:2013-07-01 00:00:00
abstract::"Rhupus" or "rhupus syndrome" is a poorly described and underdiagnosed disease in which features of both rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) appear in the same patient, most often sequentially. The SLE-related involvement is usually mild, dominated by hematological abnormalities and skin, ...
journal_title:Autoimmunity reviews
pub_type: 杂志文章
doi:10.1016/j.autrev.2020.102612
更新日期:2020-09-01 00:00:00
abstract::Approximately 500 treatment recalcitrant pemphigus vulgaris patients have been treated with rituximab. They were treated according to the lymphoma protocol (N=224) or rheumatoid arthritis protocol (RAP) (N=209) patients. Others were treated with modifications or combinations of the two. The mean duration of follow-up ...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2014.12.002
更新日期:2015-04-01 00:00:00
abstract::Fas is a transmembrane receptor involved in the death program of several cell lines, including T lymphocytes. Deleterious mutations hitting genes involved in the Fas pathway cause the autoimmune lymphoprolipherative syndrome (ALPS). Moreover, defective Fas function is involved in the development of common autoimmune d...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2011.08.011
更新日期:2012-12-01 00:00:00
abstract::In the past decade significant advantages have been made in the treatment of rheumatoid arthritis (RA) and therapeutic strategies have changed a lot. These days, highly effective disease modifying anti-rheumatic drugs enable intervention early in the disease process, in order to prevent major joint damage. For years, ...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2005.02.001
更新日期:2005-07-01 00:00:00
abstract::The term pulmonary renal vasculitis syndrome describes a clinical syndrome of diffuse alveolar haemorrhage (DAH) complicating acute glomerulonephritis that often heralds severe, life-threatening systemic vasculitis requiring urgent, aggressive therapy. "Anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitis...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2010.05.012
更新日期:2010-08-01 00:00:00
abstract::New biologic agents have changed the paradigm of rheumatoid arthritis treatment, leading to improvement in managing patients' refractory to classical DMARDs. Anti-TNF-alpha is used as first-line treatment in patients failing to respond to classical DMARDs. However, up to 50% of patients fail to respond to these drugs ...
journal_title:Autoimmunity reviews
pub_type: 杂志文章
doi:10.1016/j.autrev.2009.12.010
更新日期:2010-04-01 00:00:00
abstract::This article reviews the role of CD20 antigen in B cell function and the effectiveness and limits of passive immunotherapy with anti-CD20 monoclonal antibody (Rituximab) in the treatment of autoimmune (or immune-mediated) diseases. Active immunotherapy is a more feasible way to control these chronic diseases. A peptid...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2005.04.004
更新日期:2005-11-01 00:00:00
abstract::Type 1 diabetes (T1D) and the autoimmune thyroid diseases (AITD) are the most common autoimmune endocrine diseases. Both are organ-specific T-cell mediated diseases. Abundant epidemiological data support a strong genetic basis for both T1D and AITD. Furthermore, both diseases commonly occur in the same individuals and...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/s1568-9972(03)00080-6
更新日期:2003-10-01 00:00:00
abstract::Annexin V inhibits prothrombin activation and is able to prevent thrombus formation under normal venous and arterial blood flow conditions. Antibodies to annexin V have been identified in association with several pathological conditions, including systemic lupus erythematosus (SLE) with or without anti-phospholipid sy...
journal_title:Autoimmunity reviews
pub_type: 杂志文章,评审
doi:10.1016/j.autrev.2004.07.006
更新日期:2005-01-01 00:00:00