TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population

Cf, He; Liu, Yang S.; Yl, Cheng; Jp, Gao; Tm, Pan; Jw, Han; Cheng, Qimin; Sun, Lin; Hf, Zheng; Xb, Zuo; Xu, Shen; Yj, Sheng; Yao, Sheng; Wl, Hu; Y, Li; Yu, Zhen; Xy, Yin; Xj, Zhang; Y, Cui; Yang, Shun-Ying

doi:10.1177/0961203310367918

Cited by 113 publications

(82 citation statements)

References 28 publications

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“…This would suggest that, in SLE patients, the expression of Ikaros would be decreased compared with normal controls. Indeed, a report by Hu et al (24) does imply that in peripheral blood mononuclear cells from SLE patients, Ikaros mRNA levels are reduced (23). Whether this difference in expression of Ikaros translates to the regulation of PP2A remains to be seen.…”

Section: Discussionmentioning

confidence: 99%

Transcription factor Ikaros Represses Protein Phosphatase 2A (PP2A) Expression through an Intronic Binding Site

Nagpal

Watanabe

Tsao

et al. 2014

Journal of Biological Chemistry

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Background: PP2A is a serine/threonine phosphatase playing a central role in the pathology of the autoimmune disease SLE. Results: Ikaros binds to an intronic site in PP2A and modulates its expression. Conclusion: Ikaros represses PP2A expression by recruiting histone deacetylase HDAC1. Significance: This study proposes a novel pathway for regulation of PP2A, a critical molecule in SLE pathogenesis.

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Section: Discussionmentioning

confidence: 99%

Transcription factor Ikaros Represses Protein Phosphatase 2A (PP2A) Expression through an Intronic Binding Site

Nagpal

Watanabe

Tsao

et al. 2014

Journal of Biological Chemistry

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“…The ABIN(D485N)-expressing mice develop all the hallmarks of autoimmunity and succumb to a disease that resembles Type III and Type IV lupus in humans, termed lupus nephritis (Nanda et al, 2011;Caster et al, 2013). Interestingly, polymorphisms in the human gene encoding ABIN1 predispose individuals to several autoimmune diseases (Han et al, 2009;Nair et al, 2009;He et al, 2010;Gregersen et al, 2012;Yang et al, 2013). Autoimmunity in ABIN1(D485N) knock-in mice is suppressed when they are crossed to MyD88-deficient mice, demonstrating that the aberrant activation of the signalling network underlies the phenotype (Nanda et al, 2011).…”

Section: How the Signalling Network Is Activated Formation Of The Mydmentioning

confidence: 99%

The TLR and IL-1 signalling network at a glance

Cohen

2014

Journal of Cell Science

137

131

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Toll-like receptors (TLRs) and the receptors for interleukin (IL)-1, IL-18 and IL-33 are required for defence against microbial pathogens but, if hyper-activated or not switched off efficiently, can cause tissue damage and inflammatory and autoimmune diseases. Understanding how the checks and balances in the system are integrated to fight infection without the network operating out of control will be crucial for the development of improved drugs to treat these diseases in the future. In this Cell Science at a Glance article and the accompanying poster, I provide a brief overview of how one of these intricate networks is controlled by the interplay of protein phosphorylation and protein ubiquitylation events, and the mechanisms in myeloid cells that restrict and terminate its activation to prevent inflammatory and autoimmune diseases. Finally, I suggest a few protein kinases that have been neglected as drug targets, but whose therapeutic potential should be explored in the light of recent advances in our understanding of their roles in the innate immune system.

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“…45 The associations of those TNIP1 variants were also replicated in Japanese (rs7708392) and Chinese Han (rs10036748) populations. 46,47 There was a stronger association for rs7708392 with LN in the Japanese population. 46 A replicate study of rs7708392 and rs10036748 in a southwest Chinese SLE population found a weak association, but as for the Japanese population, a significant association for rs7708392 with LN in their SLE population was apparent.…”

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confidence: 99%

ABIN1 Dysfunction as a Genetic Basis for Lupus Nephritis

Caster¹,

Korte²,

Nanda

et al. 2013

Journal of the American Society of Nephrology

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The genetic factors underlying the pathogenesis of lupus nephritis associated with systemic lupus erythematosus are largely unknown, although animal studies indicate that nuclear factor (NF)-kB is involved. We reported previously that a knockin mouse expressing an inactive form of ABIN1 (ABIN1[D485N]) develops lupus-like autoimmune disease and demonstrates enhanced activation of NF-kB and mitogen-activated protein kinases in immune cells after toll-like receptor stimulation. In the current study, we show that ABIN1[D485N] mice develop progressive GN similar to class III and IV lupus nephritis in humans. To investigate the clinical relevance of ABIN1 dysfunction, we genotyped five single-nucleotide polymorphisms in the gene encoding ABIN1, TNIP1, in samples from European-American, African American, Asian, Gullah, and Hispanic participants in the Large Lupus Association Study 2. Comparing cases of systemic lupus erythematosus with nephritis and cases of systemic lupus erythematosus without nephritis revealed strong associations with lupus nephritis at rs7708392 in European Americans and rs4958881 in African Americans. Comparing cases of systemic lupus erythematosus with nephritis and healthy controls revealed a stronger association at rs7708392 in European Americans but not at rs4958881 in African Americans. Our data suggest that variants in the TNIP1 gene are associated with the risk for lupus nephritis and could be mechanistically involved in disease development via aberrant regulation of NF-kB and mitogen-activated protein kinase activity. 24: 174324: -175424: , 201324: . doi: 10.1681 Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by an abnormal immune response leading to autoantibody production, immune complex formation, T cell activation, and inflammatory cytokine release. 1 Multiple factors contribute to the immune response in SLE, including genetic, epigenetic, immunoregulatory, environmental, and hormonal factors. 1 Lupus nephritis (LN) occurs in about 50% of patients with SLE and is a major cause of morbidity and mortality. 2 The incidence of LN varies among different ethnic groups, suggesting that genetic factors play an important role in the pathogenesis. Patients with African ancestry are at Received February 11, 2013. Accepted May 7, 2013 D.J.C. and E.A.K. contributed equally to this work. J Am Soc NephrolPublished online ahead of print. Publication date available at www.jasn.org. LN,4 and that therapy is associated with undesirable short-and long-term adverse effects. Thus, identifying the molecular mechanisms responsible for the pathogenesis of LN is necessary to define more specific diagnostic and therapeutic targets. However, the complex interactions of genetic risks, environmental factors, and molecular events that contribute to the development of LN are only beginning to be defined. The transcription factor nuclear factor-kB (NF-kB) regulates the expression of hundreds of genes that control cell proliferation and survival, the cellular stress r...

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TNIP1, SLC15A4, ETS1, RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population

Cited by 113 publications

References 28 publications

Transcription factor Ikaros Represses Protein Phosphatase 2A (PP2A) Expression through an Intronic Binding Site

Transcription factor Ikaros Represses Protein Phosphatase 2A (PP2A) Expression through an Intronic Binding Site

The TLR and IL-1 signalling network at a glance

ABIN1 Dysfunction as a Genetic Basis for Lupus Nephritis

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