Polymorphisms of COTL1 gene identified by proteomic approach and their association with autoimmune disorders

Jin, Eun Hyo; Shim, Seung Cheol; Kim, Hwan-Gyu; Chae, Soo-Cheon; Chung, Hun‐Taeg

doi:10.3858/emm.2009.41.5.040

Cited by 28 publications

(19 citation statements)

References 38 publications

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“…This disease is a rare non-organ specific disorder that occurs in 10 to 50 per 100,000 individuals (Yamada and Yamamoto, 2005). We previously reported that SNPs in the forkhead-box J1 (FOXJ1) and interleukin coactosin-like 1 (COTL1) genes are associated with susceptibility to SLE in a Korean population (Jin et al, 2009;Li et al, 2007). In this study, we evaluated the association between TSLPR polymorphisms and susceptibility to SLE.…”

Section: Discussionmentioning

confidence: 97%

TSLPR gene polymorphism is associated with systemic lupus erythematosus in the Korean population

Chun

Yun

et al. 2012

Genes Genom

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Human thymic stromal lymphopoietin receptor (TSLPR) was identified from T lymphocytes and dendritic cells, and is believed to play an important role in the development of inflammatory and allergic responses. We previously identified 11 single-nucleotide polymorphisms (SNPs) and 2 variation sites in the TSLPR gene, and showed that SNPs in the TSLPR gene are associated with susceptibility to atopic asthma in the Korean population. The present study aimed to investigate whether polymorphisms in the TSLPR gene are associated with systematic lupus erythematosus (SLE). The genotype and allele frequencies of the g.33G>C SNP of the TSLPR gene in SLE patients were significantly different from those of the control group (P = 0.005). Additional analysis showed that the genotype and allele frequencies of the g.33G>C of the TSLPR gene were suggestively associated with female SLE patients. We also investigated the correlation between SNPs in the TSLPR gene and the total serum levels of anti-nuclear antibodies (ANA) in SLE patients. The g.21884G>A SNP of the TSLPR gene in SLE patients showed a significant association with ANA levels (P = 0.014). Our results suggest that SNPs in the TSLPR gene could be associated with susceptibility to SLE in the Korean population.

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Section: Discussionmentioning

confidence: 97%

TSLPR gene polymorphism is associated with systemic lupus erythematosus in the Korean population

Chun

Yun

et al. 2012

Genes Genom

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“…Leukotrienes are potent mediators of inflammatory disorders, including arthritis, asthma, and allergic reactions. Coactosin is upregulated in rheumatoid arthritis, and polymorphism in the coactosin gene is associated with autoimmune disorders [Jin et al, 2009]. In addition, coactosin is upregulated in peripheral blood leukocytes of patients with Churg–Strauss syndrome, a small‐vessel necrotizing vasculitis [Tougan et al, 2008].…”

Section: Coactosinmentioning

confidence: 99%

Actin‐depolymerizing factor homology domain: A conserved fold performing diverse roles in cytoskeletal dynamics

et al. 2011

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Actin filaments form contractile and protrusive structures that play central roles in many processes such as cell migration, morphogenesis, endocytosis, and cytokinesis. During these processes, the dynamics of the actin filaments are precisely regulated by a large array of actin‐binding proteins. The actin‐depolymerizing factor homology (ADF‐H) domain is a structurally conserved protein motif, which promotes cytoskeletal dynamics by interacting with monomeric and/or filamentous actin, and with the Arp2/3 complex. Despite their structural homology, the five classes of ADF‐H domain proteins display distinct biochemical activities and cellular roles, only parts of which are currently understood. ADF/cofilin promotes disassembly of aged actin filaments, whereas twinfilin inhibits actin filament assembly via sequestering actin monomers and interacting with filament barbed ends. GMF does not interact with actin, but instead binds Arp2/3 complex and promotes dissociation of Arp2/3‐mediated filament branches. Abp1 and drebrin are multidomain proteins that interact with actin filaments and regulate the activities of other proteins during various actin‐dependent processes. The exact function of coactosin is currently incompletely understood. In this review article, we discuss the biochemical functions, cellular roles, and regulation of the five groups of ADF‐H domain proteins. © 2011 Wiley‐Liss, Inc.

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“…Recently, the proteomic approach has been successively used to identify the biomarkers in skin, kidney or plasma of SLE patients [5,6,20,21]. However, to the best of our knowledge, no such study has been reported on pSLE patients using sera from north India.…”

Section: Discussionmentioning

confidence: 99%

A comparative proteomic study of sera in paediatric systemic lupus erythematosus patients and in healthy controls using MALDI-TOF-TOF and LC MS–A pilot study

et al. 2012

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BackgroundPaediatric systemic lupus erythematosus (pSLE) exhibits an aggressive clinical phenotype with severe complications and overall poor prognosis. The aim of this study was to analyse differential expression of low molecular weight (LMW) serum protein molecules of pSLE patients with active disease in comparison to sera of healthy age matched controls. Further, some of the differential expressed spots were characterised and identified by Matrix Assisted Laser Desorption Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS) and liquid chromatography (LC-MS).Methods2D-PAGE was performed using pooled sera of active pSLE and age matched healthy controls. Gels were silver-stained and differentially expressed protein spots were detected by automated image master platinum 2D software. 79 ± 17 protein spots were detected for control gels and 78 ± 17 protein spots for patient gels. Of these eleven protein spots were selected randomly and characterized by MALDI-TOF MS (five protein spots) and LC MS (six protein spots) techniques.ResultsOut of the 11 protein spots, 5 protein spots were significantly upregulated viz., leiomodin 2 (LMOD2); epidermal cytokeratin 2; immunoglobulin kappa light chain variable region; keratin 1 and transthyretin (TTR). Three protein spots were significantly down regulated e.g., apolipoprotein A1 (APOA1); chain B human complement component C3c; campath antibody antigen complex. Two protein spots (complement component C3; retinol binding protein (RBP) were found to be expressed only in disease and one protein spot cyclohydrolase 2 was only expressed in controls.ConclusionsWe conclude that 2-D maps of patients with active pSLE and controls differ significantly. In this pilot study, using proteomic approach we have identified differential expressed proteins (of LMW) e.g., RBP, LMOD 2, TTR, Component C3c Chain B and APO A1. However, in future, further studies need to confirm the physiological and pathological role of these proteins in similar cohorts of pSLE.

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Polymorphisms of COTL1 gene identified by proteomic approach and their association with autoimmune disorders

Cited by 28 publications

References 38 publications

TSLPR gene polymorphism is associated with systemic lupus erythematosus in the Korean population

TSLPR gene polymorphism is associated with systemic lupus erythematosus in the Korean population

Actin‐depolymerizing factor homology domain: A conserved fold performing diverse roles in cytoskeletal dynamics

A comparative proteomic study of sera in paediatric systemic lupus erythematosus patients and in healthy controls using MALDI-TOF-TOF and LC MS–A pilot study

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