Cargando…
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...
Autores principales: | , , , , , , , , , , , , , , , , , , , |
---|---|
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 |
_version_ | 1782317632741965824 |
---|---|
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. |
format | Online Article Text |
id | pubmed-4032331 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT mengli filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT wangli filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT tanghuayang filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT tangxianfa filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT jiangxiaoyun filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT zhaojinhua filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT gaojing filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT libing filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT fuxuhui filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT chenyan filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT yaoweiyi filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT zhanwenying filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT wubo filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT duandawei filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT shenchangbing filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT chenghui filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT zuoxianbo filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT yangsen filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT sunliangdan filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation AT zhangxuejun filaggringenemutationc3321delaisassociatedwithvariousclinicalfeaturesofatopicdermatitisinthechinesehanpopulation |