The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma

Dizier, Marie‐Hélène; Margaritte‐Jeannin, Patricia; Madore, Anne-Marie; Esparza-Gordillo, Jorge; Moffatt, Miriam F.; Corda, Eve; Monier, Florent; Guilloud-Bataille, M; Franke, André; Weidinger, Stephan; Annesi‐Maesano, Isabella; Just, Jocelyne; Pin, Isabelle; Kauffmann, F.; Cookson, William; Lee, Youngae; Laprise, Catherine; Lathrop, Mark; Bouzigon, Emmanuelle; Demenais, Florence

doi:10.1016/j.jaci.2012.04.010

Cited by 20 publications

(16 citation statements)

References 33 publications

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“…For example, we identified a significantly demethylated CpG site within the MUC15 promoter and within ANO3 in nasal epithelial cells compared to NEC-iPSCs and ESCs. ANO3 encodes anoctamin 3, which may function as a calcium-activated chloride channel and is associated with asthma and eczema (48). The expression of KRT5 and SPRR2A is turned off during reprogramming (Figure4D and 4E).…”

Section: Discussionmentioning

confidence: 99%

Dynamic transcriptional and epigenomic reprogramming from pediatric nasal epithelial cells to induced pluripotent stem cells

Zhang

Oh³

et al. 2015

Journal of Allergy and Clinical Immunology

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Background Induced pluripotent stem cells (iPSCs) hold tremendous potential, both as a biological tool to uncover the pathophysiology of disease by creating relevant human cell models, and as a source of cells for cell-based therapeutic applications. Studying the reprogramming process will also provide significant insight into tissue development. Objective We sought to characterize the derivation of iPSC lines from nasal epithelial cells isolated from the nasal mucosa samples of children, a highly relevant and easily accessible tissue for pediatric populations. Methods We performed detailed comparative analysis on the transcriptomes and methylomes of nasal epithelial cells, iPSCs derived from nasal epithelial cells (NEC-iPSCs), and ESCs. Results NEC-iPSCs express pluripotent cell markers, can differentiate into all three germ layers in vivo and in vitro, and have a transcriptome and methylome remarkably similar to ESCs. However, residual DNA methylation marks exist, which are differentially methylated between NEC-iPSCs and ESCs. A subset of these methylation markers related to epithelium development and asthma and specific to iPSCs generated from nasal epithelial cells persisted after several passages in vitro, suggesting the retention of an epigenetic memory of their tissue of origin. Our analysis also identified novel candidate genes with dynamic gene expression and DNA methylation changes during reprogramming, indicative of possible roles in airway epithelium development. Conclusion Nasal epithelial cells are an excellent tissue source to generate iPSCs in pediatric asthmatics, and detailed characterization of the resulting iPSC lines would help us better understand the reprogramming process and retention of epigenetic memory.

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Section: Discussionmentioning

confidence: 99%

Dynamic transcriptional and epigenomic reprogramming from pediatric nasal epithelial cells to induced pluripotent stem cells

Zhang

Oh³

et al. 2015

Journal of Allergy and Clinical Immunology

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“…91 The skin barrier abnormality caused by FLG mutations is also associated with increased serum 25-hydroxy vitamin D concentrations. 92 Polymorphisms located within the overlapping anoctamin 3 (ANO3) and mucin 15 (MUC15) genes, 93 as well as the IL10 gene, 94 have been associated with AD.…”

Section: Genetic Influences In Admentioning

confidence: 99%

Advances in allergic skin disease, anaphylaxis, and hypersensitivity reactions to foods, drugs, and insects in 2012

Sicherer

Leung

2013

Journal of Allergy and Clinical Immunology

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This review highlights some of the research advances in anaphylaxis; hypersensitivity reactions to foods, drugs, and insects; and allergic skin diseases that were reported in the Journal in 2012. Studies support an increase in peanut allergy prevalence in children and exposure to the antibacterial agent triclosan and having filaggrin (FLG) loss-of-function mutations as risk factors for food sensitization. The role of specific foods in causing eosinophilic esophagitis is elucidated by several studies, and microRNA analysis is identified as a possible noninvasive disease biomarker. Studies on food allergy diagnosis emphasize the utility of component testing and the possibility of improved diagnosis through stepped approaches, epitope-binding analysis, and bioinformatics. Treatment studies of food allergy show promise for oral immunotherapy, but tolerance induction remains elusive, and additional therapies are under study. Studies on anaphylaxis suggest an important role for platelet-activating factor and its relationship to the need for prompt treatment with epinephrine. Insights on the pathophysiology and diagnosis of non-IgE-mediated drug allergy are offered, with novel data regarding the interaction of drugs with HLA molecules. Numerous studies support influenza vaccination of persons with egg allergy using modest precautions. Evidence continues to mount that there is cross-talk between skin barrier defects and immune responses in patients with atopic dermatitis. Augmentation of the skin barrier with reduction in skin inflammatory responses will likely lead to the most effective intervention in patients with this common skin disease.

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“…Eczema status was based on the answer to the question: “Have you had eczema during childhood?” (either at the time of data collection and/or at the 10‐year follow‐up of the EGEA study). The same definition has already been used in previous linkage and association analyses of eczema conducted in EGEA . Ethical approval was obtained from the relevant institutional review board committees (Cochin Port‐Royal Hospital and Necker‐Enfants Malades Hospital, Paris).…”

Section: Methodsmentioning

confidence: 99%

“…The same definition has already been used in previous linkage and association analyses of eczema conducted in EGEA. 28,29 Ethical approval was obtained from the relevant institutional review board committees (Cochin Port-Royal Hospital and Necker-Enfants Malades Hospital, Paris). Written informed consent was signed by all participants or by kin or guardians of the minors/children.…”

Section: Discovery Samplementioning

confidence: 99%

The COL5A3 and MMP9 genes interact in eczema susceptibility

Margaritte‐Jeannin

Babron

Laprise

et al. 2017

Clin Experimental Allergy

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The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma

Cited by 20 publications

References 33 publications

Dynamic transcriptional and epigenomic reprogramming from pediatric nasal epithelial cells to induced pluripotent stem cells

Dynamic transcriptional and epigenomic reprogramming from pediatric nasal epithelial cells to induced pluripotent stem cells

Advances in allergic skin disease, anaphylaxis, and hypersensitivity reactions to foods, drugs, and insects in 2012

The COL5A3 and MMP9 genes interact in eczema susceptibility

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