Abstract：
:Systemic lupus erythematosus (SLE) is a systemic autoimmune disease of unknown etiology with a complex genetic basis that includes many susceptibility genes on multiple chromosomes. As complex human diseases like SLE involve multiple, interacting genetic and environmental determinants, identifying genes for complex traits is challenging and has had limited success so far. Several key approaches that are necessary to identify disease susceptibility genes in common diseases such as SLE are now available. Collectively, these approaches will allow the prioritization of candidate genes based on available knowledge of map position and biologic relevance. They will also allow us to obtain the genomic structure of these genes as well as to study sequence variants that will facilitate the identification of genes that are important in the development and expression (severity) of lupus and associated phenotypes. Although it is still a labor-intensive and expensive project to identify susceptibility genes in common diseases such as SLE, the new techniques that are now being used will undoubtedly improve gene mapping in such a kind of diseases. In this review we highlight the current findings in the genetics of human SLE after using these approaches.
journal_name
Autoimmun Revjournal_title
Autoimmunity reviewsauthors
Castro J,Balada E,Ordi-Ros J,Vilardell-Tarrés Mdoi
10.1016/j.autrev.2008.01.001subject
Has Abstractpub_date
2008-05-01 00:00:00pages
345-51issue
5eissn
1568-9972issn
1873-0183pii
S1568-9972(08)00013-Xjournal_volume
7pub_type
杂志文章,评审abstract：:A few scores predicting the short-term risk of mortality in Systemic sclerosis (SSc) have been reported to date. Our study aimed to create a predictive 15-year all-cause mortality score at the time of the diagnosis of SSc. The study was based on the Spanish Scleroderma Registry (RESCLE). The cohort was split up in der...
journal_title：Autoimmunity reviews
pub_type： 杂志文章
doi：10.1016/j.autrev.2020.102507
更新日期：2020-05-01 00:00:00
abstract：:Antibodies present in healthy conditions in the absence of deliberate immunization or infections are called natural antibodies. A significant proportion of natural antibody pool is believed to interact with self-antigens, and thus is called natural autoantibodies. Natural autoantibodies belong to IgG, IgM and IgA subc...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2012.02.006
更新日期：2012-09-01 00:00:00
abstract：:Different types of infection are implicated in the pathogenesis of autoimmune thyroid diseases (AITD) through molecular mimicry or other mechanisms, but their role is disputed. Human studies support direct or indirect evidence of involvement of some viral and bacterial agents, but reports have provided conflicting and...
journal_title：Autoimmunity reviews
pub_type： 杂志文章
doi：10.1016/j.autrev.2008.07.013
更新日期：2008-12-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,meta分析
doi：10.1016/j.autrev.2019.03.005
更新日期：2019-05-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2011.04.005
更新日期：2011-07-01 00:00:00
abstract：:TNF-alpha is a crucial cytokine in the establishment and maintenance of inflammation in multiple autoimmune and non-autoimmune disorders. A number of large placebo-controlled trials have shown that infliximab, a chimeric monoclonal antibody against TNF-alpha, is effective and well-tolerated in patients with Crohn's di...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2004.08.004
更新日期：2005-03-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2014.10.012
更新日期：2015-02-01 00:00:00
abstract：:Systemic sclerosis (SSc) or scleroderma is a disorder of the connective tissue affecting the skin, and it is often associated with visceral involvement. The predominant pathological features of SSc are autoimmunity, vasculopathy, and fibrosis. Progressive fibrosis is associated with changes in the microcirculation of ...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2017.07.018
更新日期：2017-10-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2014.01.014
更新日期：2014-04-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2011.04.018
更新日期：2011-08-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2011.11.001
更新日期：2012-05-01 00:00:00
abstract：:Systemic lupus erythematosus (SLE) and juvenile SLE (jSLE) are autoimmune disorders naturally associated with several genetic, environmental, hormonal, and immunological contributing factors. It has been assumed that vitamin D deficiency may have a role in the immune activation of patients with SLE and play an active ...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2018.01.004
更新日期：2018-03-01 00:00:00
abstract：:Rett syndrome (RTT) is a devastating neurodevelopmental disease, previously included into the autistic spectrum disorders, affecting almost exclusively females (frequency 1:10,000). RTT leads to intellective deficit, purposeful hands use loss and late major motor impairment besides featuring breathing disorders, epile...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2016.01.011
更新日期：2016-04-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2016.02.015
更新日期：2016-06-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2008.07.027
更新日期：2008-10-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2016.02.011
更新日期：2016-06-01 00:00:00
abstract：:Inflammatory arthritides are chronic diseases characterised by an increase in cardiovascular risk, largely attributable to the synergy between high-grade systemic inflammation and an elevated prevalence of traditional cardiovascular risk factors. Amongst the latter, insulin resistance and type 2 diabetes (T2D) play a ...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2017.11.030
更新日期：2018-04-01 00:00:00
abstract：:1,25-Dihydroxyvitamin D is a steroid hormone derived from vitamin D, playing an important role in maintaining an adequate serum level of calcium and phosphorus. It is now clear that vitamin D exerts an endocrine action on the cells of the immune system, generating anti-inflammatory and immunoregulatory effects. The me...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2014.10.008
更新日期：2015-05-01 00:00:00
abstract：:Parkinson's disease, Alzheimer's disease and other neurodegenerative disorders share a common pathologic pathway with aggregation and deposition of misfolded proteins causing a disruption of particular neuronal networks. Several mechanisms have been implicated in the down-stream events following deposition of misfolde...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2008.04.010
更新日期：2008-06-01 00:00:00
abstract：:Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) constitutes a group of rare diseases characterized by necrotizing inflammation of small blood vessels and the presence of ANCA. Although these autoantibodies were initially used to classify pauci-immune vasculitis, increasing clinical and experimen...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2016.03.007
更新日期：2016-07-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2012.02.018
更新日期：2012-10-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2018.06.001
更新日期：2018-11-01 00:00:00
abstract：:Viral infections are involved in the pathogenesis of blood autoimmune diseases such as hemolytic anemia and thrombocytopenia. Although antigenic mimicry has been proposed as a major mechanism by which viruses could trigger the development of such diseases, it is not easy to understand how widely different viruses migh...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2004.11.010
更新日期：2005-04-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2010.08.019
更新日期：2011-01-01 00:00:00
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journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2009.12.005
更新日期：2010-04-01 00:00:00
abstract：:Ets transcription factors function throughout development in such varied processes as cellular proliferation, apoptosis, differentiation and migration. Many have been implicated to play important roles in hematopoiesis, vasculogenesis/angiogenesis and myogenesis. Fli1 is an Ets family member that is essential for deve...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2005.10.005
更新日期：2006-07-01 00:00:00
abstract：:In Multiple Sclerosis (MS) patients, conventional magnetic resonance imaging (MRI) shows a pattern of white matter (WM) disruption but may also overlook some WM damage. Diffusion tensor MRI (DT-MRI) can provide important in-vivo information about fiber direction that is not provided by conventional MRI. The geometry o...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2006.06.003
更新日期：2006-10-01 00:00:00
abstract：:Complex regional pain syndrome (CRPS) has been considered to be an autoimmune disease and there have been clinical trials with intravenous immunoglobulin. Often the etiology of the so-called CRPS diagnosis cannot be discerned and there are no validated instruments that provide functional metrics. The term complex regi...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2018.10.003
更新日期：2019-03-01 00:00:00
abstract：:Pernicious anemia (PA) is a complex disorder consisting of hematological, gastric and immunological alterations. Diagnosis of PA relies on histologically proven atrophic body gastritis, peripheral blood examination showing megaloblastic anemia with hypersegmented neutrophils, cobalamin deficiency and antibodies to int...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2014.01.042
更新日期：2014-04-01 00:00:00
abstract：:Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the loss of insulin-producing pancreatic β-cells. The pathogenesis of T1D is complex and multifactorial and involves a genetic susceptibility that predisposes to abnormal immune responses in the presence of ill-defined environmental insults to the ...
journal_title：Autoimmunity reviews
pub_type： 杂志文章,评审
doi：10.1016/j.autrev.2015.11.008
更新日期：2016-03-01 00:00:00
