ORAI1 Genetic Polymorphisms Associated with the Susceptibility of Atopic Dermatitis in Japanese and Taiwanese Populations

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.

特应性皮炎（Atopic dermatitis，AD）是一种慢性炎症性皮肤病。目前认为多种遗传与环境因素共同参与AD的易感性调控。本研究共收集2478份DNA样本，其中中国台湾人群样本包含209例AD患者与729例对照，日本人群样本包含513例AD患者与1027例对照，用于ORAI1基因的测序与基因分型。最终在ORAI1基因中鉴定出14个遗传变异，其中包含3个新的单核苷酸多态性（single-nucleotide polymorphism，SNP）。研究结果显示，日本人群中1个非同义SNP位点rs3741596（Ser218Gly）与AD易感性显著相关，但该关联未在中国台湾人群中观测到；而另一ORAI1基因位点rs3741595则仅在中国台湾人群中与AD发病风险相关，日本人群中未发现该关联。综上，本研究结果表明ORAI1基因的遗传多态性极有可能参与AD的易感性调控。