Childhood asthma is associated with mutations and gene expression differences of <i><scp>ORMDL</scp></i> genes that can interact

Toncheva, Antoaneta A.; Potaczek, Daniel P.; Schedel, Michaela; Gersting, Søren W.; Michel, Sven; Krajnov, Natalie; Gaertner, Vincent D.; Klingbeil, Julian; Illig, Thomas; Franke, André; Winkler, Carla; Hohlfeld, Jens M.; Vogelberg, Christian; Berg, Andrea von; Bufe, Albrecht; Heinzmann, Andrea; Laub, Otto; Rietschel, Ernst; Simma, Burkhard; Genuneit, Jon; Muntau, Ania C.; Kabesch, Michael

doi:10.1111/all.12652

Cited by 34 publications

(33 citation statements)

References 43 publications

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“…The findings on the role of ORMDL3 in asthma were replicated in studies from different populations (26)(27)(28) (Table 1). Further analyses supported the conclusion that genetic elements regulating ORMDL3 expression (Table 2) may contribute to asthma development (7,13,22,25,(29)(30)(31)(32)(33)(34).…”

Section: Association Of Ormdl3 With Asthma and Other Pathologiesmentioning

confidence: 65%

“…GWAS showed that ORMDL1 is associated with increased bilirubin levels (24). Furthermore, it has been found that polymorphisms in all three ORMDL genes are associated with asthma and that asthmatics exhibit increased ORMDL levels (25). The findings on the role of ORMDL3 in asthma were replicated in studies from different populations (26)(27)(28) (Table 1).…”

Section: Association Of Ormdl3 With Asthma and Other Pathologiesmentioning

confidence: 90%

“…The same situation was also observed in the case of ORMDL1 rs5742940, which was significantly associated with atopic asthma, but not with nonatopic subtypes. If confirmed, a new era for ORMDL family research could be started (25).…”

Section: Association Of Ormdl3 With Asthma and Other Pathologiesmentioning

confidence: 99%

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The role of ORMDL proteins, guardians of cellular sphingolipids, in asthma

Paulenda

Dráber

2016

Allergy

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To cite this article: Paulenda T, Draber P. The role of ORMDL proteins, guardians of cellular sphingolipids, in asthma. AbstractA family of widely expressed ORM-like (ORMDL) proteins has been recently linked to asthma in genomewide association studies in humans and extensively explored in in vivo studies in mice. ORMDL proteins are key regulators of serine palmitoyltransferase, an enzyme catalyzing the initial step of sphingolipid biosynthesis. Sphingolipids play prominent roles in cell signaling and response to stress, and they affect the mechanistic properties of cellular membranes. Deregulation of sphingolipid biosynthesis and their recycling has been proven to support and even cause several diseases including allergy, inflammation, and asthma. ORMDL3, the most extensively studied member of the ORMDL family, has been shown to be important for endoplasmic reticulum homeostasis by regulating the unfolded protein response and calcium response. In immune cells, ORMDL3 is involved in migration and in the production of proinflammatory cytokines. Furthermore, changes in the expression level of ORMDL3 are important in allergen-induced asthma pathologies. This review focuses on functional aspects of the ORMDL family proteins, which may serve as new therapeutic targets for the treatment of asthma and some other life-threatening diseases.

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Section: Association Of Ormdl3 With Asthma and Other Pathologiesmentioning

confidence: 65%

Section: Association Of Ormdl3 With Asthma and Other Pathologiesmentioning

confidence: 90%

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The role of ORMDL proteins, guardians of cellular sphingolipids, in asthma

Paulenda

Dráber

2016

Allergy

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“…Altered expression of ORMDL3 and GSDMB by 17q21 locus variants may play a key role in childhood asthma onset 2, 7. Two 17q21 asthma‐risk variants (rs4065275 and rs12936231) in high linkage disequilibrium (LD) with rs7216389 were reported to switch CTCF‐binding sites that resulted in increased expression of ORMDL3 in CD4+ T cells which subsequently reduced interleukin‐2 production 8…”

Section: Tablementioning

confidence: 99%

17q21 variant increases the risk of exacerbations in asthmatic children despite inhaled corticosteroids use

Farzan

Vijverberg

Hernandez‐Pacheco

et al. 2018

Allergy

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“…Studies have confirmed that polymorphisms in ORMDL genes are associated with asthma; increased ORMDL levels in asthmatic patients indicate that ORMDLs can cause asthma (Toncheva et al, 2015). In recent years, the ORMDL protein is a response to excess cholesterol, leaving the endoplasmic reticulum (ER) to activate serine palmitoyl-CoA transferase (SPT) and increase sphingomyelin biosynthesis, which buffers excess cellular cholesterol (Wang et al, 2015). Besides, the fact that human ORMDL homologs can rescue yeast mutants indicated that ORMDL is involved in protein folding in the ER (Hjelmqvist et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

Associations of <i>ORMDL1</i> gene copy number variations with growth traits in four Chinese sheep breeds

et al. 2019

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Copy number variations (CNVs) are gains and losses of genomic sequence of more than 50 bp between two individuals of a species. Also, CNV is considered to be one of the main elements affecting the phenotypic diversity and evolutionary adaptation of animals. ORMDL sphingolipid biosynthesis regulator 1 (ORMDL1) is a protein-coding gene associated with diseases and development. In our study, the polymorphism of ORMDL1 gene copy numbers in four Chinese sheep breeds (abbreviated CK, HU, STH, and LTH) was detected. In addition, we analyzed the transcriptional expression level of ORMDL1 gene in different tissues of sheep and examined the association of ORMDL1 CNV with growth traits. The statistical analysis revealed that ORMDL1 CNV was remarkably correlated with body height, heart girth, and circumference of cannon bone in HU sheep (P<0.05), and there are significant effects on body weight, body height, body length, chest depth, and height of hip cross in STH sheep (P<0.05). In conclusion, our results provide a basis for the relationship between CNV of ORMDL1 gene and sheep growth traits, suggesting that ORMDL1 CNV may be considered a promising marker for the molecular breeding of Chinese sheep.

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Childhood asthma is associated with mutations and gene expression differences of ORMDL genes that can interact

Cited by 34 publications

References 43 publications

The role of ORMDL proteins, guardians of cellular sphingolipids, in asthma

The role of ORMDL proteins, guardians of cellular sphingolipids, in asthma

17q21 variant increases the risk of exacerbations in asthmatic children despite inhaled corticosteroids use

Associations of <i>ORMDL1</i> gene copy number variations with growth traits in four Chinese sheep breeds

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Childhood asthma is associated with mutations and gene expression differences of ORMDL genes that can interact

Cited by 34 publications

References 43 publications

The role of ORMDL proteins, guardians of cellular sphingolipids, in asthma

The role of ORMDL proteins, guardians of cellular sphingolipids, in asthma

17q21 variant increases the risk of exacerbations in asthmatic children despite inhaled corticosteroids use

Associations of &lt;i&gt;ORMDL1&lt;/i&gt; gene copy number variations with growth traits in four Chinese sheep breeds

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Associations of <i>ORMDL1</i> gene copy number variations with growth traits in four Chinese sheep breeds