Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing

Abstract Atopic dermatitis (AD) is a common and complex skin disorder, and the 5q22.1 region had been reported to be associated with AD. To confirm the susceptibility gene for AD in the 5q22.1 region by haplotype and targeted capture sequencing. The haplotypes were reconstructed with the genotyping...

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Autores principales: Jie Zheng, Yuan-yuan Wu, Wen-liang Fang, Xin-ying Cai, Zeng-yun-ou Zhang, Chong-xian Yu, Xiao-dong Zheng, Feng-li Xiao
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Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/1955b7caa5414170882cff79f8e14652
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spelling oai:doaj.org-article:1955b7caa5414170882cff79f8e146522021-11-14T12:18:46ZConfirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing10.1038/s41598-021-01194-62045-2322https://doaj.org/article/1955b7caa5414170882cff79f8e146522021-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-01194-6https://doaj.org/toc/2045-2322Abstract Atopic dermatitis (AD) is a common and complex skin disorder, and the 5q22.1 region had been reported to be associated with AD. To confirm the susceptibility gene for AD in the 5q22.1 region by haplotype and targeted capture sequencing. The haplotypes were reconstructed with the genotyping data of four SNPs and six deletions from 3624 Chinese Hans AD patients and 5076 controls. The targeted capture sequencing spanning 5q22.1 region was performed in the selected samples. The gene level enrichment analysis was done using loss of function variants. A total of 62 haplotypes were found, and the H15 haplotype had the strongest association with AD (P = 3.92 × 10−10, OR 0.17, 95% CI 0.09–0.32). However, no co-segregation mutation sites were found in the sequencing analysis within the 16 selected samples, while the enrichment analysis indicated that TMEM232 was significantly associated with AD (P = 7.33 × 10–5, OR 0.33, 95% CI 0.19–0.58). This study confirms previous findings that the TMEM232 gene is associated with AD by haplotype analysis and targeted capture sequencing.Jie ZhengYuan-yuan WuWen-liang FangXin-ying CaiZeng-yun-ou ZhangChong-xian YuXiao-dong ZhengFeng-li XiaoNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-5 (2021)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Jie Zheng
Yuan-yuan Wu
Wen-liang Fang
Xin-ying Cai
Zeng-yun-ou Zhang
Chong-xian Yu
Xiao-dong Zheng
Feng-li Xiao
Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing
description Abstract Atopic dermatitis (AD) is a common and complex skin disorder, and the 5q22.1 region had been reported to be associated with AD. To confirm the susceptibility gene for AD in the 5q22.1 region by haplotype and targeted capture sequencing. The haplotypes were reconstructed with the genotyping data of four SNPs and six deletions from 3624 Chinese Hans AD patients and 5076 controls. The targeted capture sequencing spanning 5q22.1 region was performed in the selected samples. The gene level enrichment analysis was done using loss of function variants. A total of 62 haplotypes were found, and the H15 haplotype had the strongest association with AD (P = 3.92 × 10−10, OR 0.17, 95% CI 0.09–0.32). However, no co-segregation mutation sites were found in the sequencing analysis within the 16 selected samples, while the enrichment analysis indicated that TMEM232 was significantly associated with AD (P = 7.33 × 10–5, OR 0.33, 95% CI 0.19–0.58). This study confirms previous findings that the TMEM232 gene is associated with AD by haplotype analysis and targeted capture sequencing.
format article
author Jie Zheng
Yuan-yuan Wu
Wen-liang Fang
Xin-ying Cai
Zeng-yun-ou Zhang
Chong-xian Yu
Xiao-dong Zheng
Feng-li Xiao
author_facet Jie Zheng
Yuan-yuan Wu
Wen-liang Fang
Xin-ying Cai
Zeng-yun-ou Zhang
Chong-xian Yu
Xiao-dong Zheng
Feng-li Xiao
author_sort Jie Zheng
title Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing
title_short Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing
title_full Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing
title_fullStr Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing
title_full_unstemmed Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing
title_sort confirming the tmem232 gene associated with atopic dermatitis through targeted capture sequencing
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/1955b7caa5414170882cff79f8e14652
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