A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine

Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)1012-1016
Number of pages5
JournalNature Genetics
Volume46
Issue number9
DOIs
Publication statusPublished - 01-01-2014

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Longitudinal Ligaments
Genome-Wide Association Study
Spine
Radiculopathy
Spinal Cord Diseases
Osteogenesis
Gene Expression
Ossification of the posterior longitudinal ligament of the spine
Genes

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments. / A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. In: Nature Genetics. 2014 ; Vol. 46, No. 9. pp. 1012-1016.
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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.",
author = "{Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments} and Masahiro Nakajima and Atsushi Takahashi and Takashi Tsuji and Tatsuki Karasugi and Hisatoshi Baba and Kenzo Uchida and Shigenori Kawabata and Atsushi Okawa and Shigeo Shindo and Kazuhiro Takeuchi and Yuki Taniguchi and Shingo Maeda and Masafumi Kashii and Atsushi Seichi and Hideaki Nakajima and Yoshiharu Kawaguchi and Shunsuke Fujibayashi and Masahiko Takahata and Toshihiro Tanaka and Kei Watanabe and Kazunobu Kida and Tsukasa Kanchiku and Zenya Ito and Kanji Mori and Takashi Kaito and Sho Kobayashi and Kei Yamada and Masahito Takahashi and Kazuhiro Chiba and Morio Matsumoto and Furukawa, {Ken Ichi} and Michiaki Kubo and Yoshiaki Toyama and Shiro Ikegawa",
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Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments 2014, 'A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine', Nature Genetics, vol. 46, no. 9, pp. 1012-1016. https://doi.org/10.1038/ng.3045

A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. / Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments.

In: Nature Genetics, Vol. 46, No. 9, 01.01.2014, p. 1012-1016.

Research output: Contribution to journalArticle

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AU - Nakajima, Masahiro

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AU - Shindo, Shigeo

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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

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AU - Toyama, Yoshiaki

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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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Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments. A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. Nature Genetics. 2014 Jan 1;46(9):1012-1016. https://doi.org/10.1038/ng.3045