Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.
FLG 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 derma...
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doaj-090549f50e154e9c90c524db117bf5ed2020-11-25T00:27:01ZengPublic Library of Science (PLoS)PLoS ONE1932-62032017-01-011212e019007710.1371/journal.pone.0190077Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.Myungshin KimJaeeun YooJiyeon KimJoonhong ParkEunhee HanWoori JangHyojin ChaeJi Hyun LeeYoung Min ParkYonggoo KimFLG 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.Eighty-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.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 (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.This 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.http://europepmc.org/articles/PMC5744964?pdf=render |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Myungshin Kim Jaeeun Yoo Jiyeon Kim Joonhong Park Eunhee Han Woori Jang Hyojin Chae Ji Hyun Lee Young Min Park Yonggoo Kim |
spellingShingle |
Myungshin Kim Jaeeun Yoo Jiyeon Kim Joonhong Park Eunhee Han Woori Jang Hyojin Chae Ji Hyun Lee Young Min Park Yonggoo Kim Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis. PLoS ONE |
author_facet |
Myungshin Kim Jaeeun Yoo Jiyeon Kim Joonhong Park Eunhee Han Woori Jang Hyojin Chae Ji Hyun Lee Young Min Park Yonggoo Kim |
author_sort |
Myungshin Kim |
title |
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis. |
title_short |
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis. |
title_full |
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis. |
title_fullStr |
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis. |
title_full_unstemmed |
Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis. |
title_sort |
association of flg single nucleotide variations with clinical phenotypes of atopic dermatitis. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2017-01-01 |
description |
FLG 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.Eighty-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.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 (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.This 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. |
url |
http://europepmc.org/articles/PMC5744964?pdf=render |
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