Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

Manuela Pigors; John E A Common; Xuan Fei Colin C Wong; Sajid Malik; Claire A Scott; Niloofar Tabarra; Herty Liany; Jianjun Liu; Vachiranee Limviphuvadh; Sebastian Maurer-Stroh; Mark B Y Tang; Nicholas Lench; David J Margolis; David A van Heel; Charles A Mein; Natalija Novak; Hansjörg Baurecht; Stephan Weidinger; W H Irwin McLean; Alan D Irvine; Edel A O'Toole; Michael A Simpson; David P Kelsell

doi:10.1016/j.jid.2018.05.013

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

J Invest Dermatol. 2018 Dec;138(12):2674-2677. doi: 10.1016/j.jid.2018.05.013. Epub 2018 May 30.

Authors

Manuela Pigors¹, John E A Common², Xuan Fei Colin C Wong², Sajid Malik³, Claire A Scott¹, Niloofar Tabarra¹, Herty Liany⁴, Jianjun Liu⁴, Vachiranee Limviphuvadh⁵, Sebastian Maurer-Stroh⁵, Mark B Y Tang⁶, Nicholas Lench⁷, David J Margolis⁸, David A van Heel¹, Charles A Mein⁹, Natalija Novak¹⁰, Hansjörg Baurecht¹¹, Stephan Weidinger¹¹, W H Irwin McLean¹², Alan D Irvine¹³, Edel A O'Toole¹, Michael A Simpson¹⁴, David P Kelsell¹⁵

Affiliations

¹ Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
² Institute of Medical Biology, ASTAR, Singapore, Singapore.
³ Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
⁴ Genome Institute of Singapore, A*STAR, Singapore, Singapore.
⁵ Bioinformatics Institute, A*STAR, Singapore, Singapore.
⁶ National Skin Centre, Singapore, Singapore.
⁷ Congenica Limited, Genome Campus, Hinxton, UK.
⁸ Department of Biostatistics and Epidemiology and Dermatology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
⁹ The Genome Center, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
¹⁰ Department of Dermatology and Allergy, University Hospital Bonn, Bonn, Germany.
¹¹ Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Kiel, Germany.
¹² Dermatology and Genetic Medicine, University of Dundee, Dundee, UK.
¹³ National Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland; Department of Paediatric Dermatology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland; Department of Clinical Medicine, Trinity College Dublin, Dublin, Ireland.
¹⁴ Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, Great Maze Pond, London, UK.
¹⁵ Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. Electronic address: d.p.kelsell@qmul.ac.uk.

PMID: 29857066
DOI: 10.1016/j.jid.2018.05.013

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Bangladesh
Dermatitis, Atopic / epidemiology*
Dermatitis, Atopic / genetics
Ethnicity*
Exome Sequencing
Filaggrin Proteins
Gene Frequency
Genetic Association Studies
Genetic Predisposition to Disease
Genotype*
Humans
Immunoglobulin E / metabolism
Intermediate Filament Proteins / genetics*
Mutation / genetics*
Pedigree
Phenotype
Polymorphism, Genetic
Risk
United Kingdom / epidemiology
United Kingdom / ethnology

Substances

FLG protein, human
Filaggrin Proteins
Intermediate Filament Proteins
Immunoglobulin E

Grants and funding

R01 AR056755/AR/NIAMS NIH HHS/United States