TY - JOUR
T1 - A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis
AU - Japan Scoliosis Clinical Research Group
AU - Ogura, Yoji
AU - Kou, Ikuyo
AU - Takahashi, Yohei
AU - Takeda, Kazuki
AU - Minami, Shohei
AU - Kawakami, Noriaki
AU - Uno, Koki
AU - Ito, Manabu
AU - Yonezawa, Ikuho
AU - Kaito, Takashi
AU - Yanagida, Haruhisa
AU - Watanabe, Kei
AU - Taneichi, Hiroshi
AU - Harimaya, Katsumi
AU - Taniguchi, Yuki
AU - Kotani, Toshiaki
AU - Tsuji, Taichi
AU - Suzuki, Teppei
AU - Sudo, Hideki
AU - Fujita, Nobuyuki
AU - Yagi, Mitsuru
AU - Chiba, Kazuhiro
AU - Kubo, Michiaki
AU - Kamatani, Yoichiro
AU - Nakamura, Masaya
AU - Matsumoto, Morio
AU - Watanabe, Kota
AU - Ikegawa, Shiro
AU - Sakuma, Tsuyoshi
AU - Kono, Katsuki
AU - Akazawa, Tsutomu
AU - Nishida, Kotaro
AU - Kakutani, Kenichiro
AU - Shigematsu, Hideki
AU - Iida, Takahiro
AU - Demura, Satoru
AU - Hosogane, Naobumi
AU - Okada, Eijiro
N1 - Publisher Copyright:
© The Author 2017. Published by Oxford University Press. All rights reserved.
PY - 2017/10/15
Y1 - 2017/10/15
N2 - Adolescent idiopathic scoliosis (AIS) is a common spinal deformity affectingmillions of children. Since treatment and prognosis of AIS depend on curve progression, identifying factors related to AIS curve progression is important in itsmanagement. Although several genetic loci for AIS occurrence are reported, no locus for curve progression has been identified. To identify genes associated with AIS progression, we conducted a genome-wide association study followed by a replication study using a total of 2,543 AIS subjects who were evaluated for the curve progression.We identified a significantly associated locus on chromosome 11q14.1 (P=1.98×10-9, odds ratio=1.56). In silico and in vitro analyses identified a functional variant, rs35333564 in MIR4300HG, the host gene of amicroRNA, MIR4300. The genomic region containing rs35333564 had enhancer activity, which was decreased in its risk allele. Our data suggest that decrease ofMIR4300 is related to AIS progression.
AB - Adolescent idiopathic scoliosis (AIS) is a common spinal deformity affectingmillions of children. Since treatment and prognosis of AIS depend on curve progression, identifying factors related to AIS curve progression is important in itsmanagement. Although several genetic loci for AIS occurrence are reported, no locus for curve progression has been identified. To identify genes associated with AIS progression, we conducted a genome-wide association study followed by a replication study using a total of 2,543 AIS subjects who were evaluated for the curve progression.We identified a significantly associated locus on chromosome 11q14.1 (P=1.98×10-9, odds ratio=1.56). In silico and in vitro analyses identified a functional variant, rs35333564 in MIR4300HG, the host gene of amicroRNA, MIR4300. The genomic region containing rs35333564 had enhancer activity, which was decreased in its risk allele. Our data suggest that decrease ofMIR4300 is related to AIS progression.
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U2 - 10.1093/hmg/ddx291
DO - 10.1093/hmg/ddx291
M3 - Article
C2 - 29016859
AN - SCOPUS:85031724223
SN - 0964-6906
VL - 26
SP - 4086
EP - 4092
JO - Human molecular genetics
JF - Human molecular genetics
IS - 20
ER -