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Title: Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants
Authors: Wong, Colin C. X. F.
Denil, Simon L. I. J.
McLean, W. H. Irwin
Smith, Frances J. D.
Common, John E. A.
Tang, Mark B. Y.
Foo, Jia Nee
Chen, Huijia
Tay, Angeline Su Ling
Haines, Rebecca L.
Sandilands, Aileen
Lane, E. Birgitte
Liu, Jianjun
Keywords: Filaggrin Gene
Disease-associated Variants
Issue Date: 2017
Source: Wong, C. C. X. F., Denil, S. L. I. J., Foo, J. N., Chen, H., Tay, A. S. L., Haines, R. L., . . . Common, J. E. A. (2018). Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants. Journal of Allergy and Clinical Immunology, 141(2), 814-816. doi:10.1016/j.jaci.2017.10.001
Series/Report no.: Journal of Allergy and Clinical Immunology
Abstract: The filaggrin gene (FLG) is essential for skin differentiation and epidermal barrier formation. FLG loss-of-function (LoF) variants are associated with ichthyosis vulgaris and the major genetic risk factor for developing atopic dermatitis (AD).1, 2, 3 Genetic stratification of patients with AD according to FLG LoF risk is a common practice for both research and clinical studies; however, few studies comprehensively sequence the entire FLG coding region. Most studies that include FLG genotyping have screened for common predominant LoF variants to report allele frequencies after full Sanger sequencing of a smaller batch of test patient samples or previously published data. This strategy potentially results in underreporting of the genetic contribution especially in ethnicities where FLG LoF variants are highly diverse.4 Distinct LoF variants have been reported for most ethnicities studied to date. For example, 2 predominant sequence variants (p.R501X and c.2282del4) make up approximately 80% of the mutation burden in northern Europeans,5 whereas in East Asian ethnicities, a larger FLG LoF mutation spectrum is found with fewer predominating variants.6, 7 However, routinely Sanger sequencing the entire FLG coding region for large cohorts is not always feasible, although desirable as it is essential to correctly stratify patients. To address this, we developed a robust and cost-effective high-throughput PCR-based method for analyzing the entire coding region of FLG using Fluidigm microfluidics technology and next-generation sequencing (NGS). We have applied this method to fully resequence cohorts of Chinese, Malay, and Indian patients with AD from the Singaporean population.
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2017.10.001
Rights: © 2017 The Author(s). Published by Elsevier Inc. on behalf of the American Academy of Allergy, Asthma & Immunology. This is an open access article under the CC BY license (
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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