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Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population

BACKGROUND: We confirmed that the filaggrin gene mutation c.3321delA is associated with atopic dermatitis in our previous genome wide association study of the Chinese Han population. c.3321delA is the most common filaggrin gene mutation in Chinese atopic dermatitis patients but is not present in Eur...

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Autores principales: Meng, Li, Wang, Li, Tang, Huayang, Tang, Xianfa, Jiang, Xiaoyun, Zhao, Jinhua, Gao, Jing, Li, Bing, Fu, Xuhui, Chen, Yan, Yao, Weiyi, Zhan, Wenying, Wu, Bo, Duan, Dawei, Shen, Changbing, Cheng, Hui, Zuo, Xianbo, Yang, Sen, Sun, Liangdan, Zhang, Xuejun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032331/
https://www.ncbi.nlm.nih.gov/pubmed/24858702
http://dx.doi.org/10.1371/journal.pone.0098235
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author Meng, Li
Wang, Li
Tang, Huayang
Tang, Xianfa
Jiang, Xiaoyun
Zhao, Jinhua
Gao, Jing
Li, Bing
Fu, Xuhui
Chen, Yan
Yao, Weiyi
Zhan, Wenying
Wu, Bo
Duan, Dawei
Shen, Changbing
Cheng, Hui
Zuo, Xianbo
Yang, Sen
Sun, Liangdan
Zhang, Xuejun
author_facet Meng, Li
Wang, Li
Tang, Huayang
Tang, Xianfa
Jiang, Xiaoyun
Zhao, Jinhua
Gao, Jing
Li, Bing
Fu, Xuhui
Chen, Yan
Yao, Weiyi
Zhan, Wenying
Wu, Bo
Duan, Dawei
Shen, Changbing
Cheng, Hui
Zuo, Xianbo
Yang, Sen
Sun, Liangdan
Zhang, Xuejun
author_sort Meng, Li
collection PubMed
description BACKGROUND: We confirmed that the filaggrin gene mutation c.3321delA is associated with atopic dermatitis in our previous genome wide association study of the Chinese Han population. c.3321delA is the most common filaggrin gene mutation in Chinese atopic dermatitis patients but is not present in European populations. OBJECTIVE: To investigate the genetic model for the c.3321delA mutation and to determine the correlation between c.3321delA and atopic dermatitis clinical phenotypes in the Chinese Han population. METHOD: The filaggrin gene mutation c.3321delA was sequenced in 1,080 atopic dermatitis patients and 908 controls from the Chinese population. The χ(2) test, ANOVA,nonparametric tests and logistic regression were used to investigate the relationship between the c.3321delA genotype and atopic dermatitis clinical phenotypes in the Chinese Han population. RESULTS: Analyses of the genetic model revealed that the additive model best described the c.3321delA mutation (P = 3.09E-11, OR = 3.43, 95%CI = 2.38–4.96). Stratified analyses showed that the c.3321delA allele frequency distribution is significantly associated with concomitant skin xerosis (P = 1.68E-03, OR = 2.13,95%CI = 1.32–3.46), palmar hyperlinearity (P = 3.64E-17, OR = 4.0,95%CI = 2.86–5.70), white dermatographism (P = 4.25E-03, OR = 1.82,95%CI = 1.22–2.71), food intolerance (P = 1.51E-03, OR = 1.76,95%CI = 1.23–2.50) and disease severity ( P = 9.67E-05). CONCLUSION: Our study indicates that the filaggrin gene mutation c.3321delA is associated with clinical phenotypes of atopic dermatitis in the Chinese Han population, which might help us gain a better understanding on the pathogenesis of atopic dermatitis.
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spelling pubmed-40323312014-05-28 Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population Meng, Li Wang, Li Tang, Huayang Tang, Xianfa Jiang, Xiaoyun Zhao, Jinhua Gao, Jing Li, Bing Fu, Xuhui Chen, Yan Yao, Weiyi Zhan, Wenying Wu, Bo Duan, Dawei Shen, Changbing Cheng, Hui Zuo, Xianbo Yang, Sen Sun, Liangdan Zhang, Xuejun PLoS One Research Article BACKGROUND: We confirmed that the filaggrin gene mutation c.3321delA is associated with atopic dermatitis in our previous genome wide association study of the Chinese Han population. c.3321delA is the most common filaggrin gene mutation in Chinese atopic dermatitis patients but is not present in European populations. OBJECTIVE: To investigate the genetic model for the c.3321delA mutation and to determine the correlation between c.3321delA and atopic dermatitis clinical phenotypes in the Chinese Han population. METHOD: The filaggrin gene mutation c.3321delA was sequenced in 1,080 atopic dermatitis patients and 908 controls from the Chinese population. The χ(2) test, ANOVA,nonparametric tests and logistic regression were used to investigate the relationship between the c.3321delA genotype and atopic dermatitis clinical phenotypes in the Chinese Han population. RESULTS: Analyses of the genetic model revealed that the additive model best described the c.3321delA mutation (P = 3.09E-11, OR = 3.43, 95%CI = 2.38–4.96). Stratified analyses showed that the c.3321delA allele frequency distribution is significantly associated with concomitant skin xerosis (P = 1.68E-03, OR = 2.13,95%CI = 1.32–3.46), palmar hyperlinearity (P = 3.64E-17, OR = 4.0,95%CI = 2.86–5.70), white dermatographism (P = 4.25E-03, OR = 1.82,95%CI = 1.22–2.71), food intolerance (P = 1.51E-03, OR = 1.76,95%CI = 1.23–2.50) and disease severity ( P = 9.67E-05). CONCLUSION: Our study indicates that the filaggrin gene mutation c.3321delA is associated with clinical phenotypes of atopic dermatitis in the Chinese Han population, which might help us gain a better understanding on the pathogenesis of atopic dermatitis. Public Library of Science 2014-05-23 /pmc/articles/PMC4032331/ /pubmed/24858702 http://dx.doi.org/10.1371/journal.pone.0098235 Text en © 2014 Meng et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Meng, Li
Wang, Li
Tang, Huayang
Tang, Xianfa
Jiang, Xiaoyun
Zhao, Jinhua
Gao, Jing
Li, Bing
Fu, Xuhui
Chen, Yan
Yao, Weiyi
Zhan, Wenying
Wu, Bo
Duan, Dawei
Shen, Changbing
Cheng, Hui
Zuo, Xianbo
Yang, Sen
Sun, Liangdan
Zhang, Xuejun
Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population
title Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population
title_full Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population
title_fullStr Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population
title_full_unstemmed Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population
title_short Filaggrin Gene Mutation c.3321delA Is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population
title_sort filaggrin gene mutation c.3321dela is associated with various clinical features of atopic dermatitis in the chinese han population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032331/
https://www.ncbi.nlm.nih.gov/pubmed/24858702
http://dx.doi.org/10.1371/journal.pone.0098235
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