Literature DB >> 28224995

Genetics of eosinophilic esophagitis.

L C Kottyan1,2, M E Rothenberg2.   

Abstract

Eosinophilic esophagitis (EoE) is a chronic, allergic disease associated with marked mucosal eosinophil accumulation. EoE disease risk is multifactorial and includes environmental and genetic factors. This review will focus on the contribution of genetic variation to EoE risk, as well as the experimental tools and statistical methodology used to identify EoE risk loci. Specific disease-risk loci that are shared between EoE and other allergic diseases (TSLP, LRRC32) or unique to EoE (CAPN14), as well as Mendellian Disorders associated with EoE, will be reviewed in the context of the insight that they provide into the molecular pathoetiology of EoE. We will also discuss the clinical opportunities that genetic analyses provide in the form of decision support tools, molecular diagnostics, and novel therapeutic approaches.

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Year:  2017        PMID： 28224995      PMCID： PMC5600523          DOI： 10.1038/mi.2017.4

Source DB:  PubMed          Journal:  Mucosal Immunol        ISSN： 1933-0219            Impact factor:   7.313


  116 in total

Review 1.  Cytokine signaling in 2002: new surprises in the Jak/Stat pathway.

Authors:  John J O'Shea; Massimo Gadina; Robert D Schreiber
Journal:  Cell       Date:  2002-04       Impact factor: 41.582

Review 2.  The BRCA2-EMSY connection: implications for breast and ovarian tumorigenesis.

Authors:  Daniel A Haber
Journal:  Cell       Date:  2003-11-26       Impact factor: 41.582

3.  The genetics of asthma and allergic diseases: pieces of the puzzle are starting to come together.

Authors:  Catherine Laprise; Emmanuelle Bouzigon
Journal:  Curr Opin Allergy Clin Immunol       Date:  2013-10

4.  Making it big in allergy.

Authors:  Leah C Kottyan; Matthew T Weirauch; Marc E Rothenberg
Journal:  J Allergy Clin Immunol       Date:  2015-01       Impact factor: 10.793

5.  Eosinophilic esophagitis-linked calpain 14 is an IL-13-induced protease that mediates esophageal epithelial barrier impairment.

Authors:  Benjamin P Davis; Emily M Stucke; M Eyad Khorki; Vladislav A Litosh; Jeffrey K Rymer; Mark Rochman; Jared Travers; Leah C Kottyan; Marc E Rothenberg
Journal:  JCI Insight       Date:  2016-04

6.  Coordinate interaction between IL-13 and epithelial differentiation cluster genes in eosinophilic esophagitis.

Authors:  Carine Blanchard; Emily M Stucke; Karen Burwinkel; Julie M Caldwell; Margaret H Collins; Annette Ahrens; Bridget K Buckmeier; Sean C Jameson; Allison Greenberg; Ajay Kaul; James P Franciosi; Jonathan P Kushner; Lisa J Martin; Philip E Putnam; J Pablo Abonia; Suzanne I Wells; Marc E Rothenberg
Journal:  J Immunol       Date:  2010-03-05       Impact factor: 5.422

7.  A single biopsy is valid for genetic diagnosis of eosinophilic esophagitis regardless of tissue preservation or location in the esophagus.

Authors:  Evan S Dellon; Vivek Yellore; Matthew Andreatta; James Stover
Journal:  J Gastrointestin Liver Dis       Date:  2015-06       Impact factor: 2.008

Review 8.  Eosinophilic esophagitis: updated consensus recommendations for children and adults.

Authors:  Chris A Liacouras; Glenn T Furuta; Ikuo Hirano; Dan Atkins; Stephen E Attwood; Peter A Bonis; A Wesley Burks; Mirna Chehade; Margaret H Collins; Evan S Dellon; Ranjan Dohil; Gary W Falk; Nirmala Gonsalves; Sandeep K Gupta; David A Katzka; Alfredo J Lucendo; Jonathan E Markowitz; Richard J Noel; Robert D Odze; Philip E Putnam; Joel E Richter; Yvonne Romero; Eduardo Ruchelli; Hugh A Sampson; Alain Schoepfer; Nicholas J Shaheen; Scott H Sicherer; Stuart Spechler; Jonathan M Spergel; Alex Straumann; Barry K Wershil; Marc E Rothenberg; Seema S Aceves
Journal:  J Allergy Clin Immunol       Date:  2011-04-07       Impact factor: 10.793

Review 9.  Eosinophilic esophagitis in children and adults: a systematic review and consensus recommendations for diagnosis and treatment.

Authors:  Glenn T Furuta; Chris A Liacouras; Margaret H Collins; Sandeep K Gupta; Chris Justinich; Phil E Putnam; Peter Bonis; Eric Hassall; Alex Straumann; Marc E Rothenberg
Journal:  Gastroenterology       Date:  2007-08-08       Impact factor: 22.682

10.  Risk of Autoimmunity in EoE and Families: A Population-Based Cohort Study.

Authors:  Kathryn Peterson; Rafael Firszt; John Fang; Jathine Wong; Ken R Smith; Kristina A Brady
Journal:  Am J Gastroenterol       Date:  2016-05-24       Impact factor: 10.864
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  23 in total

Review 1.  Role of genetics, environment, and their interactions in the pathogenesis of eosinophilic esophagitis.

Authors:  John Lyles; Marc Rothenberg
Journal:  Curr Opin Immunol       Date:  2019-05-25       Impact factor: 7.486

2.  An algorithm for the classification of mRNA patterns in eosinophilic esophagitis: Integration of machine learning.

Authors:  Benjamin F Sallis; Lena Erkert; Sherezade Moñino-Romero; Utkucan Acar; Rina Wu; Liza Konnikova; Willem S Lexmond; Matthew J Hamilton; W Augustine Dunn; Zsolt Szepfalusi; Jon A Vanderhoof; Scott B Snapper; Jerrold R Turner; Jeffrey D Goldsmith; Lisa A Spencer; Samuel Nurko; Edda Fiebiger
Journal:  J Allergy Clin Immunol       Date:  2017-12-19       Impact factor: 10.793

3.  Immunology of the ancestral differences in eosinophilic esophagitis.

Authors:  Leah Kottyan; Jonathan M Spergel; Antonella Cianferoni
Journal:  Ann Allergy Asthma Immunol       Date:  2018-11-07       Impact factor: 6.347

4.  Current Diagnostic and Treatment Strategies for Eosinophilic Esophagitis.

Authors:  Anna M Lipowska; Robert T Kavitt
Journal:  Gastroenterol Hepatol (N Y)       Date:  2017-09

Review 5.  The genetic etiology of eosinophilic esophagitis.

Authors:  Leah C Kottyan; Sreeja Parameswaran; Matthew T Weirauch; Marc E Rothenberg; Lisa J Martin
Journal:  J Allergy Clin Immunol       Date:  2020-01       Impact factor: 10.793

Review 6.  Epithelial origin of eosinophilic esophagitis.

Authors:  Mark Rochman; Nurit P Azouz; Marc E Rothenberg
Journal:  J Allergy Clin Immunol       Date:  2018-07       Impact factor: 10.793

7.  Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.

Authors:  Joseph D Sherrill; Kiran Kc; Xinjian Wang; Ting Wen; Adam Chamberlin; Emily M Stucke; Margaret H Collins; J Pablo Abonia; Yanyan Peng; Qiang Wu; Philip E Putnam; Phillip J Dexheimer; Bruce J Aronow; Leah C Kottyan; Kenneth M Kaufman; John B Harley; Taosheng Huang; Marc E Rothenberg
Journal:  JCI Insight       Date:  2018-04-19

Review 8.  Mechanisms of gastrointestinal allergic disorders.

Authors:  Nurit P Azouz; Marc E Rothenberg
Journal:  J Clin Invest       Date:  2019-03-11       Impact factor: 14.808

9.  Esophageal type 2 cytokine expression heterogeneity in eosinophilic esophagitis in a multisite cohort.

Authors:  Julia L M Dunn; Tetsuo Shoda; Julie M Caldwell; Ting Wen; Seema S Aceves; Margaret H Collins; Evan S Dellon; Gary W Falk; John Leung; Lisa J Martin; Paul Menard-Katcher; Amanda K Rudman-Spergel; Jonathan M Spergel; Joshua B Wechsler; Guang-Yu Yang; Glenn T Furuta; Marc E Rothenberg
Journal:  J Allergy Clin Immunol       Date:  2020-03-19       Impact factor: 10.793

Review 10.  Pathophysiology of Eosinophilic Esophagitis.

Authors:  Benjamin P Davis
Journal:  Clin Rev Allergy Immunol       Date:  2018-08       Impact factor: 8.667
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