Comprehensive screening for a complete set of Japanese‐population‐specific filaggrin gene mutations. Issue 4 (28th January 2014)

• Record Type: Journal Article
• Authors: Kono, M.; Nomura, T.; Ohguchi, Y.; Mizuno, O.; Suzuki, S.; Tsujiuchi, H.; Hamajima, N.; McLean, W. H. I.; Shimizu, H.; Akiyama, M.
• Is Part Of: Allergy. Volume 69:Issue 4(2014:Apr.)
• Page Start: 537
• Page End: 540
• Publication Date: 2014-01-28
• Subjects: Allergy -- Periodicals; 616.97
• DOI: 10.1111/all.12369
• Languages: English
• ISSNs: 0105-4538

Abstract

<abstract abstract-type="main" id="all12369-abs-0001"> <title>Abstract</title> <p>Mutations in <italic>FLG</italic> coding profilaggrin cause ichthyosis vulgaris and are an important predisposing factor for atopic dermatitis. Until now, most case–control studies and population‐based screenings have been performed only for prevalent mutations. In this study, we established a high‐throughput <italic>FLG</italic> mutation detection system by real‐time PCR with a set of two double‐dye probes and conducted comprehensive screening for almost all of the Japanese‐population‐specific <italic>FLG</italic> mutations (ten <italic>FLG</italic> mutations). The present comprehensive screening for all ten <italic>FLG</italic> mutations provided a more precise prevalence rate for <italic>FLG</italic> mutations (11.1%, <italic>n</italic> = 820), which seemed high compared with data of previous reports based on screening for limited numbers of <italic>FLG</italic> mutations. Our comprehensive screening suggested that population‐specific <italic>FLG</italic> mutations may be a significant predisposing factor for hay fever (odds ratio = 2.01 [95% CI: 1.027–3.936, <italic>P</italic> < 0.05]), although the sample sizes of this study were too small for reliable subphenotype analysis on the association between <italic>FLG</italic> mutations and hay fever in the eczema patients and the noneczema individuals, and it is not clear whether the association between <italic>FLG</italic> mutations and hay fever is due to the close association between <italic>FLG</italic> mutations and hay fever patients with eczema.</p> </abstract>