ORAI1 genetic polymorphisms associated with the susceptibility of atopic dermatitis in Japanese and Taiwanese populations.
ORAI1 genetic polymorphisms associated with the susceptibility of atopic dermatitis in Japanese and Taiwanese populations.
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DOI：
10.1371/journal.pone.0029387
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Tamari M
中科院分区：
文献类型：
--
作者：
Chang WC;Lee CH;Hirota T;Wang LF;Doi S;Miyatake A;Enomoto T;Tomita K;Sakashita M;Yamada T;Fujieda S;Ebe K;Saeki H;Takeuchi S;Furue M;Chen WC;Chiu YC;Chang WP;Hong CH;Hsi E;Juo SH;Yu HS;Nakamura Y;Tamari M
特应性皮炎是一种慢性炎症性皮肤病。多种遗传和环境因素被认为是导致AD易感性的原因。在这项研究中，我们收集了2,478份DNA样本，包括来自台湾人群的209名AD患者和729名对照受试者，以及来自日本人群的513名AD患者和1027名对照受试者，用于测序和基因分型ORAI 1。共鉴定出14种基因变异，包括3种新的单核苷酸多态性（SNPs）。我们的研究结果表明，一个非同义SNP（rs3741596，Ser 218 Gly）与AD的易感性在日本人口，但在台湾人口。然而，在台湾人群中，存在与AD风险相关的另一个ORAI 1 SNP（rs3741595），但在日本人群中则不相关。以上结果提示，ORAI 1基因多态性可能与AD的易感性有关。
Atopic dermatitis is a chronic inflammatory skin disease. Multiple genetic and environmental factors are thought to be responsible for susceptibility to AD. In this study, we collected 2,478 DNA samples including 209 AD patients and 729 control subjects from Taiwanese population and 513 AD patients and 1027 control subject from Japanese population for sequencing and genotyping ORAI1. A total of 14 genetic variants including 3 novel single-nucleotide polymorphisms (SNPs) in the ORAI1 gene were identified. Our results indicated that a non-synonymous SNP (rs3741596, Ser218Gly) associated with the susceptibility of AD in the Japanese population but not in the Taiwanese population. However, there is another SNP of ORAI1 (rs3741595) associated with the risk of AD in the Taiwanese population but not in the Japanese population. Taken together, our results indicated that genetic polymorphisms of ORAI1 are very likely to be involved in the susceptibility of AD.
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影响因子：
4.8
作者：
Mercer, Jason C.;DeHaven, Wayne I.;Putney, James W., Jr.
通讯作者：
Putney, James W., Jr.
影响因子：
4.8
作者：
Chang, WC;Parekh, AB
通讯作者：
Parekh, AB
影响因子：
4.8
作者：
Chang, Wei-Chiao;Nelson, Charmaine;Parekh, Anant B.
通讯作者：
Parekh, Anant B.
影响因子：
3.5
作者：
Enomoto, Hisako;Hirata, Kenji;Noguchi, Emiko
通讯作者：
Noguchi, Emiko
影响因子：
14.2
作者：
Rafatpanah, H;Bennett, E;Arkwright, PD
通讯作者：
Arkwright, PD