Atopic Dermatitis Progression: Evaluating Intervention Strategies

Gold, Linda F Stein; Eichenfield, Lawrence F.

doi:10.12788/j.sder.2017.010

Cited by 1 publication

(1 citation statement)

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“…Another in silico prediction tool predicted that rs71625199 induce the alteration of splicing through the activation of an exonic cryptic acceptor site [ 28 , 29 ]. Filaggrin is highly polymorphic and filaggrin itself breaks down, the resulting products contribute to the formation of natural moisturizing factor, which is important for epidermal hydration and barrier function [ 30 ]. Therefore, the functional change of the FLG -SNV cannot be directly expected via in silico analysis.…”

Section: Discussionmentioning

confidence: 99%

Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis

et al. 2017

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BackgroundFLG encodes a large protein called profilaggrin, which plays a key role in maintaining an effective skin barrier against the environment. In this study, we identified FLG single nucleotide variations (FLG-SNVs) and evaluated the association of FLG-SNVs with clinical phenotypes including atopic dermatitis (AD)-associated minor clinical features, presence of specific allergic sensitization, and serum parameters.MethodsEighty-one Korean patients with AD were enrolled. AD-associated minor clinical features as well as allergic rhinitis and asthma were diagnosed by specialists. FLG-SNVs were identified by Sanger sequencing of entire exons through long-range PCR. Allergic sensitization to a specific allergen was evaluated by multiple allergen simultaneous test. Serologic parameters such as serum eosinophil cationic protein (ECP) and eosinophil derived neurotoxin (EDN) were measured.ResultsA total of seventy-three SNVs and 4 LOF mutations were successfully genotyped. rs71626704 and rs76413899 were significantly associated with a history of asthma and cheilitis (P = 0.002 and P = 0.033, respectively), however, the associations were not found statistically significant after adjustment by multiple comparisons. In addition, we detected haplotype blocks which were correlated with non-specific hand or foot dermatitis and scalp scale. We identified FLG-SNVs which were associated with sensitization to environmental allergens; rs62623409 and rs71625199 (P = 0.038 and P = 0.008, respectively). Patients with FLG P478S TT and history of allergic rhinitis showed a higher EDN level, and among those patients, the ones with asthma showed a higher ECP level.ConclusionThis study revealed the association of FLG-SNVs with AD-associated minor clinical features. We firstly identified rs71625199 which was associated with higher environmental allergic sensitization. We also suggest that FLG P478S is a kind of disease modifier which affects serologic parameters such as EDN and ECP.

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Section: Discussionmentioning

confidence: 99%