ヤスカワ　クミ   Yasukawa Kumi   安川　久美    所属   医学部 医学科（附属八千代医療センター）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Variations in ORAI1 Gene Associated with Kawasaki Disease.
掲載誌名	正式名：PloS one 略　 称：PLoS One ISSNコード：19326203/19326203
掲載区分	国外
巻・号・頁	11(1),pp.e0145486
著者・共著者	Onouchi Yoshihiro, Fukazawa Ryuji, Yamamura Kenichiro, Suzuki Hiroyuki, Kakimoto Nobuyuki, Suenaga Tomohiro, Takeuchi Takashi, Hamada Hiromichi, Honda Takafumi, Yasukawa Kumi, Terai Masaru, Ebata Ryota, Higashi Kouji, Saji Tsutomu, Kemmotsu Yasushi, Takatsuki Shinichi, Ouchi Kazunobu, Kishi Fumio, Yoshikawa Tetsushi, Nagai Toshiro, Hamamoto Kunihiro, Sato Yoshitake, Honda Akihito, Kobayashi Hironobu, Sato Junichi, Shibuta Shoichi, Miyawaki Masakazu, Oishi Ko, Yamaga Hironobu, Aoyagi Noriyuki, Yoshiyama Megumi, Miyashita Ritsuko, Murata Yuji, Fujino Akihiro, Ozaki Kouichi, Kawasaki Tomisaku, Abe Jun, Seki Mitsuru, Kobayashi Tohru, Arakawa Hirokazu, Ogawa Shunichi, Hara Toshiro, Hata Akira, Tanaka Toshihiro
発行年月	2016
概要	Kawasaki disease (KD; MIM#61175) is a systemic vasculitis syndrome with unknown etiology which predominantly affects infants and children. Recent findings of susceptibility genes for KD suggest possible involvement of the Ca(2+)/NFAT pathway in the pathogenesis of KD. ORAI1 is a Ca(2+) release activated Ca(2+) (CRAC) channel mediating store-operated Ca(2+) entry (SOCE) on the plasma membrane. The gene for ORAI1 is located in chromosome 12q24 where a positive linkage signal was observed in our previous affected sib-pair study of KD. A common non-synonymous single nucleotide polymorphism located within exon 2 of ORAI1 (rs3741596) was significantly associated with KD (P = 0.028 in the discovery sample set (729 KD cases and 1,315 controls), P = 0.0056 in the replication sample set (1,813 KD cases vs. 1,097 controls) and P = 0.00041 in a meta-analysis by the Mantel-Haenszel method). Interestingly, frequency of the risk allele of rs3741596 is more than 20 times higher in Japanese compared to Europeans. We also found a rare 6 base-pair in-frame insertion variant associated with KD (rs141919534; 2,544 KD cases vs. 2,414 controls, P = 0.012). These data indicate that ORAI1 gene variations are associated with KD and may suggest the potential importance of the Ca(2+)/NFAT pathway in the pathogenesis of this disorder.
DOI	10.1371/journal.pone.0145486
PMID	26789410