| Literature DB >> 25064007 |
Masahiro Nakajima1, Atsushi Takahashi2, Takashi Tsuji3, Tatsuki Karasugi4, Hisatoshi Baba5, Kenzo Uchida5, Shigenori Kawabata6, Atsushi Okawa6, Shigeo Shindo7, Kazuhiro Takeuchi8, Yuki Taniguchi9, Shingo Maeda10, Masafumi Kashii11, Atsushi Seichi12, Hideaki Nakajima5, Yoshiharu Kawaguchi13, Shunsuke Fujibayashi14, Masahiko Takahata15, Toshihiro Tanaka16, Kei Watanabe17, Kazunobu Kida18, Tsukasa Kanchiku19, Zenya Ito20, Kanji Mori21, Takashi Kaito22, Sho Kobayashi23, Kei Yamada24, Masahito Takahashi25, Kazuhiro Chiba3, Morio Matsumoto26, Ken-Ichi Furukawa27, Michiaki Kubo28, Yoshiaki Toyama26, Shiro Ikegawa29.
Abstract
Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common spinal disorder among the elderly that causes myelopathy and radiculopathy. To identify genetic factors for OPLL, we performed a genome-wide association study (GWAS) in ∼8,000 individuals followed by a replication study using an additional ∼7,000 individuals. We identified six susceptibility loci for OPLL: 20p12.3 (rs2423294: P = 1.10 × 10(-13)), 8q23.1 (rs374810: P = 1.88 × 10(-13)), 12p11.22 (rs1979679: P = 4.34 × 10(-12)), 12p12.2 (rs11045000: P = 2.95 × 10(-11)), 8q23.3 (rs13279799: P = 1.28 × 10(-10)) and 6p21.1 (rs927485: P = 9.40 × 10(-9)). Analyses of gene expression in and around the loci suggested that several genes are involved in OPLL etiology through membranous and/or endochondral ossification processes. Our results bring new insight to the etiology of OPLL.Entities:
Mesh:
Year: 2014 PMID: 25064007 DOI: 10.1038/ng.3045
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330