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

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

Journal of Investigative Dermatology

10.1016/j.jid.2018.05.013

https://doi.org/10.1016/j.jid.2018.05.013

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

30 May 2018

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes Pigors, Manuela et al. Journal of Investigative Dermatology, Volume 138, Issue 12, 2674 - 2677

Atopic eczema (AE) is a heterogeneous chronic inflammatory skin condition that affects approximately 15–20% of children worldwide (Nutten, 2015). The prevalence varies widely among different countries, between rural and urban areas within a single country, and particular Asian skin types are more sensitive to urban environments (Ben-Gashir et al., 2004; Krutmann et al., 2014; Nutten, 2015; Odhiambo et al., 2009). In this study, we analyzed the genetic architecture of patients with AE from the South Asian Bangladeshi community in East London, UK using whole-exome sequencing combined with rare variant enrichment analysis.

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The full paper can be downloaded from the publisher's URL: https://doi.org/10.1016/j.jid.2018.05.013

https://oar.a-star.edu.sg/communities-collections/articles/14715

0022-202X
1523-1747

Bioinformatics Institute