A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis

Japan Scoliosis Clinical Research Group

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)4086-4092
Number of pages7
JournalHuman Molecular Genetics
Volume26
Issue number20
DOIs
Publication statusPublished - Oct 15 2017

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Scoliosis
MicroRNAs
Genes
Genetic Loci
Genome-Wide Association Study
Computer Simulation
Chromosomes
Alleles
Odds Ratio

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis. / Japan Scoliosis Clinical Research Group.

In: Human Molecular Genetics, Vol. 26, No. 20, 15.10.2017, p. 4086-4092.

Research output: Contribution to journalArticle

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title = "A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis",
abstract = "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.",
author = "{Japan Scoliosis Clinical Research Group} and Yoji Ogura and Ikuyo Kou and Yohei Takahashi and Kazuki Takeda and Shohei Minami and Noriaki Kawakami and Koki Uno and Manabu Ito and Ikuho Yonezawa and Takashi Kaito and Haruhisa Yanagida and Kei Watanabe and Hiroshi Taneichi and Katsumi Harimaya and Yuki Taniguchi and Toshiaki Kotani and Taichi Tsuji and Teppei Suzuki and Hideki Sudo and Nobuyuki Fujita and Mitsuru Yagi and Kazuhiro Chiba and Michiaki Kubo and Yoichiro Kamatani and Masaya Nakamura and Morio Matsumoto and Kota Watanabe and Shiro Ikegawa and Tsuyoshi Sakuma and Katsuki Kono and Tsutomu Akazawa and Kotaro Nishida and Kenichiro Kakutani and Hideki Shigematsu and Takahiro Iida and Satoru Demura and Naobumi Hosogane and Eijiro Okada",
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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

PY - 2017/10/15

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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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