| Literature DB >> 29016859 |
Yoji Ogura1,2, Ikuyo Kou1, Yohei Takahashi2, Kazuki Takeda1,2, Shohei Minami3, Noriaki Kawakami4, Koki Uno5, Manabu Ito6, Ikuho Yonezawa7, Takashi Kaito8, Haruhisa Yanagida9, Kei Watanabe10, Hiroshi Taneichi11, Katsumi Harimaya12, Yuki Taniguchi13, Toshiaki Kotani3, Taichi Tsuji4, Teppei Suzuki5, Hideki Sudo14, Nobuyuki Fujita2, Mitsuru Yagi2, Kazuhiro Chiba15, Michiaki Kubo16, Yoichiro Kamatani17, Masaya Nakamura2, Morio Matsumoto2, Kota Watanabe2, Shiro Ikegawa1.
Abstract
Adolescent idiopathic scoliosis (AIS) is a common spinal deformity affecting millions of children. Since treatment and prognosis of AIS depend on curve progression, identifying factors related to AIS curve progression is important in its management. 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 a microRNA, MIR4300. The genomic region containing rs35333564 had enhancer activity, which was decreased in its risk allele. Our data suggest that decrease of MIR4300 is related to AIS progression.Entities:
Mesh：
Substances：
Year: 2017 PMID： 29016859 DOI： 10.1093/hmg/ddx291
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150