Literature DB >> 32412647

Genetics in Atopic Dermatitis: Historical Perspective and Future Prospects.

Sara J Brown1, Martina S Elias, Maria Bradley.   

Abstract

Atopic dermatitis (AD) is a common, complex trait, arising from the interplay of multiple genetic and environmental factors. This review provides an overview of developments in the field of AD genetics. AD shows high heritability; strategies to investigate genetic risk include linkage, candidate gene studies, genome-wide association and animal modelling. Loss-of-function mutations in FLG, encoding the skin barrier protein filaggrin, remain the strongest genetic risk factor identified for AD, but variants influencing skin and systemic immune function are also important. AD is at the forefront of genetic research, from large-scale population studies to in vitro models and detailed molecular analyses. An understanding of genetic risk factors has considerably improved knowledge of mechanisms leading to atopic skin inflammation. Together this work has identified avenues for therapeutic intervention, but further research is needed to fully realise the opportunities of personalised medicine for this complex disease, to optimise patient benefit.

Entities:  

Keywords:  eczema; filaggrin; genetic; genome-wide; phenotype; risk; transcriptome; atopic dermatitis

Mesh:

Substances:

Year:  2020        PMID: 32412647      PMCID: PMC9189740          DOI: 10.2340/00015555-3513

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN: 0001-5555            Impact factor:   3.875


  90 in total

1.  Epidermal equivalents of filaggrin null keratinocytes do not show impaired skin barrier function.

Authors:  Hanna Niehues; Joost Schalkwijk; Ivonne M J J van Vlijmen-Willems; Diana Rodijk-Olthuis; Michelle M van Rossum; Ewa Wladykowski; Johanna M Brandner; Ellen H J van den Bogaard; Patrick L J M Zeeuwen
Journal:  J Allergy Clin Immunol       Date:  2016-10-11       Impact factor: 10.793

2.  Lineage-specific dynamic and pre-established enhancer-promoter contacts cooperate in terminal differentiation.

Authors:  Adam J Rubin; Brook C Barajas; Mayra Furlan-Magaril; Vanessa Lopez-Pajares; Maxwell R Mumbach; Imani Howard; Daniel S Kim; Lisa D Boxer; Jonathan Cairns; Mikhail Spivakov; Steven W Wingett; Minyi Shi; Zhixin Zhao; William J Greenleaf; Anshul Kundaje; Michael Snyder; Howard Y Chang; Peter Fraser; Paul A Khavari
Journal:  Nat Genet       Date:  2017-08-14       Impact factor: 38.330

3.  The Molecular Anatomy of Mouse Skin during Hair Growth and Rest.

Authors:  Simon Joost; Karl Annusver; Tina Jacob; Xiaoyan Sun; Tim Dalessandri; Unnikrishnan Sivan; Inês Sequeira; Rickard Sandberg; Maria Kasper
Journal:  Cell Stem Cell       Date:  2020-02-27       Impact factor: 24.633

4.  Side-by-Side Comparison of Skin Biopsies and Skin Tape Stripping Highlights Abnormal Stratum Corneum in Atopic Dermatitis.

Authors:  Byung Eui Kim; Elena Goleva; Peter S Kim; Kathryn Norquest; Caroline Bronchick; Patricia Taylor; Donald Y M Leung
Journal:  J Invest Dermatol       Date:  2019-06-06       Impact factor: 8.551

5.  Importance of genetic factors in the etiology of atopic dermatitis: a twin study.

Authors:  Simon F Thomsen; Charlotte S Ulrik; Kirsten O Kyvik; Jacob v B Hjelmborg; Lars R Skadhauge; Ida Steffensen; Vibeke Backer
Journal:  Allergy Asthma Proc       Date:  2007 Sep-Oct       Impact factor: 2.587

6.  Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.

Authors:  Lavinia Paternoster; Marie Standl; Johannes Waage; Hansjörg Baurecht; Melanie Hotze; David P Strachan; John A Curtin; Klaus Bønnelykke; Chao Tian; Atsushi Takahashi; Jorge Esparza-Gordillo; Alexessander Couto Alves; Jacob P Thyssen; Herman T den Dekker; Manuel A Ferreira; Elisabeth Altmaier; Patrick Ma Sleiman; Feng Li Xiao; Juan R Gonzalez; Ingo Marenholz; Birgit Kalb; Maria Pino Yanes; Cheng-Jian Xu; Lisbeth Carstensen; Maria M Groen-Blokhuis; Cristina Venturini; Craig E Pennell; Sheila J Barton; Albert M Levin; Ivan Curjuric; Mariona Bustamante; Eskil Kreiner-Møller; Gabrielle A Lockett; Jonas Bacelis; Supinda Bunyavanich; Rachel A Myers; Anja Matanovic; Ashish Kumar; Joyce Y Tung; Tomomitsu Hirota; Michiaki Kubo; Wendy L McArdle; A J Henderson; John P Kemp; Jie Zheng; George Davey Smith; Franz Rüschendorf; Anja Bauerfeind; Min Ae Lee-Kirsch; Andreas Arnold; Georg Homuth; Carsten O Schmidt; Elisabeth Mangold; Sven Cichon; Thomas Keil; Elke Rodríguez; Annette Peters; Andre Franke; Wolfgang Lieb; Natalija Novak; Regina Fölster-Holst; Momoko Horikoshi; Juha Pekkanen; Sylvain Sebert; Lise L Husemoen; Niels Grarup; Johan C de Jongste; Fernando Rivadeneira; Albert Hofman; Vincent Wv Jaddoe; Suzanne Gma Pasmans; Niels J Elbert; André G Uitterlinden; Guy B Marks; Philip J Thompson; Melanie C Matheson; Colin F Robertson; Janina S Ried; Jin Li; Xian Bo Zuo; Xiao Dong Zheng; Xian Yong Yin; Liang Dan Sun; Maeve A McAleer; Grainne M O'Regan; Caoimhe Mr Fahy; Linda E Campbell; Milan Macek; Michael Kurek; Donglei Hu; Celeste Eng; Dirkje S Postma; Bjarke Feenstra; Frank Geller; Jouke Jan Hottenga; Christel M Middeldorp; Pirro Hysi; Veronique Bataille; Tim Spector; Carla Mt Tiesler; Elisabeth Thiering; Badri Pahukasahasram; James J Yang; Medea Imboden; Scott Huntsman; Natàlia Vilor-Tejedor; Caroline L Relton; Ronny Myhre; Wenche Nystad; Adnan Custovic; Scott T Weiss; Deborah A Meyers; Cilla Söderhäll; Erik Melén; Carole Ober; Benjamin A Raby; Angela Simpson; Bo Jacobsson; John W Holloway; Hans Bisgaard; Jordi Sunyer; Nicole M Probst Hensch; L Keoki Williams; Keith M Godfrey; Carol A Wang; Dorret I Boomsma; Mads Melbye; Gerard H Koppelman; Deborah Jarvis; Wh Irwin McLean; Alan D Irvine; Xue Jun Zhang; Hakon Hakonarson; Christian Gieger; Esteban G Burchard; Nicholas G Martin; Liesbeth Duijts; Allan Linneberg; Marjo-Riitta Jarvelin; Markus M Noethen; Susanne Lau; Norbert Hübner; Young-Ae Lee; Mayumi Tamari; David A Hinds; Daniel Glass; Sara J Brown; Joachim Heinrich; David M Evans; Stephan Weidinger
Journal:  Nat Genet       Date:  2015-10-19       Impact factor: 38.330

7.  Proteomic analysis of filaggrin deficiency identifies molecular signatures characteristic of atopic eczema.

Authors:  Martina S Elias; Heather A Long; Carla F Newman; Paul A Wilson; Andrew West; Paul J McGill; Keith C Wu; Michael J Donaldson; Nick J Reynolds
Journal:  J Allergy Clin Immunol       Date:  2017-05-04       Impact factor: 10.793

Review 8.  Human and computational models of atopic dermatitis: A review and perspectives by an expert panel of the International Eczema Council.

Authors:  Kilian Eyerich; Sara J Brown; Bethany E Perez White; Reiko J Tanaka; Robert Bissonette; Sandipan Dhar; Thomas Bieber; Dirk J Hijnen; Emma Guttman-Yassky; Alan Irvine; Jacob P Thyssen; Christian Vestergaard; Thomas Werfel; Andreas Wollenberg; Amy S Paller; Nick J Reynolds
Journal:  J Allergy Clin Immunol       Date:  2018-11-07       Impact factor: 10.793

9.  Functional and proteomic analysis of a full thickness filaggrin-deficient skin organoid model.

Authors:  Martina S Elias; Sheila C Wright; William V Nicholson; Kimberley D Morrison; Alan R Prescott; Sara Ten Have; Phillip D Whitfield; Angus I Lamond; Sara J Brown
Journal:  Wellcome Open Res       Date:  2019-11-26

10.  Cytokine modulation of atopic dermatitis filaggrin skin expression.

Authors:  Michael D Howell; Byung Eui Kim; Peisong Gao; Audrey V Grant; Mark Boguniewicz; Anna Debenedetto; Lynda Schneider; Lisa A Beck; Kathleen C Barnes; Donald Y M Leung
Journal:  J Allergy Clin Immunol       Date:  2007-05-23       Impact factor: 10.793

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  3 in total

Review 1.  Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine.

Authors:  Peter Valent; Cem Akin; Boguslaw Nedoszytko; Patrizia Bonadonna; Karin Hartmann; Marek Niedoszytko; Knut Brockow; Frank Siebenhaar; Massimo Triggiani; Michel Arock; Jan Romantowski; Aleksandra Górska; Lawrence B Schwartz; Dean D Metcalfe
Journal:  Int J Mol Sci       Date:  2020-11-27       Impact factor: 5.923

Review 2.  Skin barrier defects in atopic dermatitis: From old idea to new opportunity.

Authors:  Takeshi Yoshida; Lisa A Beck; Anna De Benedetto
Journal:  Allergol Int       Date:  2021-12-13       Impact factor: 7.478

3.  Nickel penetration into stratum corneum in FLG null carriers-A human experimental study.

Authors:  Anneli Julander; Emelie Rietz Liljedahl; Helena Korres de Paula; Eva Assarsson; Malin Engfeldt; Margareta Littorin; Christine Shobana Anto; Carola Lidén; Karin Broberg
Journal:  Contact Dermatitis       Date:  2022-05-06       Impact factor: 6.419

  3 in total

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