Association of <i>FLG</i> single nucleotide variation (SNV) with dog dander allergic sensitization.

<p>Association of <i>FLG</i> single nucleotide variation (SNV) with dog dander allergic sensitization.</p

Haplotype blocks of the <i>FLG</i> gene related to atopic dermatitis-associated minor clinical features.

<p>Haplotype blocks of the <i>FLG</i> gene related to atopic dermatitis-associated minor clinical features.</p

Association of <i>FLG</i> single nucleotide variation (SNV) with dog dander allergic sensitization.

<p>Association of <i>FLG</i> single nucleotide variation (SNV) with dog dander allergic sensitization.</p

Association of <i>FLG</i> single nucleotide variations with clinical phenotypes of atopic dermatitis

<div><p>Background</p><p><i>FLG</i> 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 <i>FLG</i> single nucleotide variations (<i>FLG</i>-SNVs) and evaluated the association of <i>FLG</i>-SNVs with clinical phenotypes including atopic dermatitis (AD)-associated minor clinical features, presence of specific allergic sensitization, and serum parameters.</p><p>Methods</p><p>Eighty-one Korean patients with AD were enrolled. AD-associated minor clinical features as well as allergic rhinitis and asthma were diagnosed by specialists. <i>FLG</i>-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.</p><p>Results</p><p>A 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 (<i>P</i> = 0.002 and <i>P</i> = 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 <i>FLG</i>-SNVs which were associated with sensitization to environmental allergens; rs62623409 and rs71625199 (<i>P</i> = 0.038 and <i>P</i> = 0.008, respectively). Patients with <i>FLG</i> 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.</p><p>Conclusion</p><p>This study revealed the association of <i>FLG</i>-SNVs with AD-associated minor clinical features. We firstly identified rs71625199 which was associated with higher environmental allergic sensitization. We also suggest that <i>FLG</i> P478S is a kind of disease modifier which affects serologic parameters such as EDN and ECP.</p></div

Linkage disequilibrium map of the <i>FLG</i> gene in atopic dermatitis patients.

<p>Linkage disequilibrium map of the <i>FLG</i> gene in atopic dermatitis patients.</p

Comparison of serum parameters in atopic dermatitis according to scoring atopic dermatitis (SCORAD), presence or absence of <i>FLG</i> P478S, and history of allergic rhinitis (AR) and asthma among patients with P478S and AR.

<p>* <i>P</i> <0.05, ** <i>P</i> <0.01.</p

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