TY - JOUR
T1 - A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine
AU - Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments
AU - Nakajima, Masahiro
AU - Takahashi, Atsushi
AU - Tsuji, Takashi
AU - Karasugi, Tatsuki
AU - Baba, Hisatoshi
AU - Uchida, Kenzo
AU - Kawabata, Shigenori
AU - Okawa, Atsushi
AU - Shindo, Shigeo
AU - Takeuchi, Kazuhiro
AU - Taniguchi, Yuki
AU - Maeda, Shingo
AU - Kashii, Masafumi
AU - Seichi, Atsushi
AU - Nakajima, Hideaki
AU - Kawaguchi, Yoshiharu
AU - Fujibayashi, Shunsuke
AU - Takahata, Masahiko
AU - Tanaka, Toshihiro
AU - Watanabe, Kei
AU - Kida, Kazunobu
AU - Kanchiku, Tsukasa
AU - Ito, Zenya
AU - Mori, Kanji
AU - Kaito, Takashi
AU - Kobayashi, Sho
AU - Yamada, Kei
AU - Takahashi, Masahito
AU - Chiba, Kazuhiro
AU - Matsumoto, Morio
AU - Furukawa, Ken Ichi
AU - Kubo, Michiaki
AU - Toyama, Yoshiaki
AU - Ikegawa, Shiro
N1 - Funding Information:
We thank the individuals with OPLL and their families who participated in this study and the Japan OPLL Network (Zen-Sekichu-Ren), including Ishikawa prefecture OPLL Tomo-no-kai. We also thank Y. Takahashi and T. Oguma for technical assistance. The work reported in this article was supported by grants from the Ministry of Health, Labour and Welfare of Japan: Committee for Study of Ossification of Spinal Ligament (H23-Nanchi-Ippan-032) and Committee for Research and Development of Therapies for Ossification of Posterior Longitudinal Ligament (H26-Itaku(Nan)-Ippan-053).
Publisher Copyright:
© 2014 Nature America, Inc. All rights reserved.
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
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U2 - 10.1038/ng.3045
DO - 10.1038/ng.3045
M3 - Article
C2 - 25064007
AN - SCOPUS:84922392172
SN - 1061-4036
VL - 46
SP - 1012
EP - 1016
JO - Nature Genetics
JF - Nature Genetics
IS - 9
ER -