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DOI 10.1002/jbmr.4738

Медицинская библиотека · Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022

Identification of a Functional Susceptibility Variant for Adolescent Idiopathic Scoliosis that Upregulates Early Growth Response 1 (EGR1)-Mediated UNCX Expression.

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

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Аннотация

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 located in an enhancer of UNCX, a homeobox gene and its risk allele upregulated the UNCX expression. A transcription factor, early growth response 1 (EGR1), transactivated the rs78148157-located enhancer and showed a higher binding affinity for the risk allele of rs78148157. Furthermore, zebrafish larvae with UNCX messenger RNA (mRNA) injection developed body curvature and defective neurogenesis in a dose-dependent manner. rs78148157 confers the genetic susceptibility to AIS by enhancing the EGR1-regulated UNCX expression. © 2022 American Society for Bone and Mineral Research (ASBMR).

Для цитирования: 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. 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. 2022. DOI: 10.1002/jbmr.4738.

Предметные рубрики MeSH

AnimalsGenetic Predisposition to DiseaseGenome-Wide Association StudyPolymorphism, Single NucleotideScoliosisTranscription FactorsZebrafishZebrafish ProteinsEarly Growth Response Protein 1
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