Identification of a Functional Susceptibility Variant for Adolescent Idiopathic Scoliosis that Upregulates Early Growth Response 1 (EGR1)-Mediated UNCX Expression.
Yonezawa Y, Guo L, Kakinuma H, Otomo N, Yoshino S, Takeda K, Nakajima M, Shiraki T, Ogura Y, Takahashi Y, Koike Y, Minami S, Uno K, Kawakami N, Ito M, Yonezawa I, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Sato T, Inami S, Nakamura M, Matsumoto M, Terao C, Watanabe K, Okamoto H, Ikegawa S.
Yonezawa Y, et al.
J Bone Miner Res. 2023 Jan;38(1):144-153. doi: 10.1002/jbmr.4738. Epub 2022 Nov 23.
J Bone Miner Res. 2023.
PMID: 36342191
Free article.
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 fa …
In this study, we evaluated the AIS-associated variants in the 7p22.3 locus by combining in silico, in vitro, and in vivo analyses. rs781481 …