Article
Identification of a Functional Susceptibility Variant for Adolescent Idiopathic Scoliosis that Upregulates Early Growth Response 1 (EGR1)-Mediated UNCX Expression.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jan 2023
Yonezawa Yoshiro, Guo Long, Kakinuma Hisaya, Otomo Nao, Yoshino Soichiro, Takeda Kazuki, Nakajima Masahiro, Shiraki Toshiyuki, Ogura Yoji, Takahashi Yohei, Koike Yoshinao, Minami Shohei, Uno Koki, Kawakami Noriaki, Ito Manabu, Yonezawa Ikuho, Watanabe Kei, Kaito Takashi, Yanagida Haruhisa, Taneichi Hiroshi, Harimaya Katsumi, Taniguchi Yuki, Shigematsu Hideki, Iida Takahiro, Demura Satoru, Sugawara Ryo, Fujita Nobuyuki, Yagi Mitsuru, Okada Eijiro, Hosogane Naobumi, Kono Katsuki, Chiba Kazuhiro, Kotani Toshiaki, Sakuma Tsuyoshi, Akazawa Tsutomu, Suzuki Teppei, Nishida Kotaro, Kakutani Kenichiro, Tsuji Taichi, Sudo Hideki, Iwata Akira, Sato Tatsuya, Inami Satoshi, Nakamura Masaya, Matsumoto Morio, Terao Chikashi, Watanabe Kota, Okamoto Hitoshi, Ikegawa Shiro
Abstract excerpt
Adolescent idiopathic scoliosis (AIS) is a serious health problem affecting 3% of live births all over the world. Many loci associated with AIS have been identified by previous genome wide association studies, but their biological implication remains mostly unclear. In this study, we evaluated the AIS-associated variants in the 7p22.3 locus by combining in silico, in vitro, and in vivo analyses. rs78148157 was...
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