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

Japan Scoliosis Clinical Research Group

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13 Citations (Scopus)


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
Issue number20
Publication statusPublished - 2017 Oct 15


ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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