title: ORAI1 genetic polymorphisms associated with the susceptibility of atopic dermatitis in Japanese and Taiwanese populations.
abstract: 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.
authors.affiliation: Department of Medical Genetics, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. wcc@kmu.edu.tw
authors.forename: Wei-Chiao
authors.initials: WC
authors.lastname: Chang
authors.forename: Chih-Hung
authors.initials: CH
authors.lastname: Lee
authors.forename: Tomomitsu
authors.initials: T
authors.lastname: Hirota
authors.forename: Li-Fang
authors.initials: LF
authors.lastname: Wang
authors.forename: Satoru
authors.initials: S
authors.lastname: Doi
authors.forename: Akihiko
authors.initials: A
authors.lastname: Miyatake
authors.forename: Tadao
authors.initials: T
authors.lastname: Enomoto
authors.forename: Kaori
authors.initials: K
authors.lastname: Tomita
authors.forename: Masafumi
authors.initials: M
authors.lastname: Sakashita
authors.forename: Takechiyo
authors.initials: T
authors.lastname: Yamada
authors.forename: Shigeharu
authors.initials: S
authors.lastname: Fujieda
authors.forename: Koji
authors.initials: K
authors.lastname: Ebe
authors.forename: Hidehisa
authors.initials: H
authors.lastname: Saeki
authors.forename: Satoshi
authors.initials: S
authors.lastname: Takeuchi
authors.forename: Masutaka
authors.initials: M
authors.lastname: Furue
authors.forename: Wei-Chiao
authors.initials: WC
authors.lastname: Chen
authors.forename: Yi-Ching
authors.initials: YC
authors.lastname: Chiu
authors.forename: Wei Pin
authors.initials: WP
authors.lastname: Chang
authors.forename: Chien-Hui
authors.initials: CH
authors.lastname: Hong
authors.forename: Edward
authors.initials: E
authors.lastname: Hsi
authors.forename: Suh-Hang Hank
authors.initials: SH
authors.lastname: Juo
authors.forename: Hsin-Su
authors.initials: HS
authors.lastname: Yu
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Mayumi
authors.initials: M
authors.lastname: Tamari
mesh_terms: D044466:Asian People / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics* / Q000378:metabolism; D002460:Cell Line; D002874:Chromosome Mapping; D003876:Dermatitis, Atopic / Q000453:epidemiology / Q000235:genetics*; D005786:Gene Expression Regulation; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007564:Japan / Q000453:epidemiology; D015810:Linkage Disequilibrium / Q000235:genetics; D008214:Lymphocytes / Q000378:metabolism; D000071740:ORAI1 Protein; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012867:Skin / Q000378:metabolism / Q000473:pathology; D013624:Taiwan / Q000453:epidemiology
chemical_list: D015220:Calcium Channels; D000071740:ORAI1 Protein; C510746:ORAI1 protein, human; D012333:RNA, Messenger