A genome-wide sib-pair linkage analysis of Ossification of the posterior longitudinal ligament of the spine

Tatsuki Karasugi; Masahiro Nakajima; Katsunori Ikari; Takashi Tsuji; Morio Matsumoto; Kazuhiro Chiba; Kenzo Uchida; Yoshiharu Kawaguchi; Hiroshi Mizuta; Naoshi Ogata; Motoki Iwasaki; Shingo Maeda; Takuya Numasawa; Kuniyoshi Abumi; Tsuyoshi Kato; Hiroshi Ozawa; Toshihiko Taguchi; Takashi Kaito; Masashi Neo; Masashi Yamazaki; Nobuaki Tadokoro; Munehito Yoshida; Shinnosuke Nakahara; Kenji Endo; Shiro Imagama; Satoru Demura; Kimiaki Sato; Atsushi Seichi; Shoichi Ichimura; Masahiko Watanabe; Kei Watanabe; Yutaka Nakamura; Kanji Mori; Hisatoshi Baba; Yoshiaki Toyama; Shiro Ikegawa

doi:10.1007/s00774-012-0404-y

A genome-wide sib-pair linkage analysis of Ossification of the posterior longitudinal ligament of the spine

Tatsuki Karasugi
, Masahiro Nakajima
, Katsunori Ikari
, Takashi Tsuji
, Morio Matsumoto
, Kazuhiro Chiba
, Kenzo Uchida
, Yoshiharu Kawaguchi
, Hiroshi Mizuta
, Naoshi Ogata
, Motoki Iwasaki
, Shingo Maeda
, Takuya Numasawa
, Kuniyoshi Abumi
, Tsuyoshi Kato
, Hiroshi Ozawa
, Toshihiko Taguchi
, Takashi Kaito
, Masashi Neo
, Masashi Yamazaki

Nobuaki Tadokoro, Munehito Yoshida, Shinnosuke Nakahara, Kenji Endo, Shiro Imagama, Satoru Demura, Kimiaki Sato, Atsushi Seichi, Shoichi Ichimura, Masahiko Watanabe, Kei Watanabe, Yutaka Nakamura, Kanji Mori, Hisatoshi Baba, Yoshiaki Toyama, Shiro Ikegawa

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

Abstract

Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common musculoskeletal disease among people after middle age. The OPLL presents with serious neurological abnormalities due to compression of the spinal cord and nerve roots. The OPLL is caused by genetic and environment factors; however, its etiology and pathogenesis still remain to be elucidated. To determine the susceptibility loci for OPLL, we performed a genome-wide linkage study using 214 affected sib-pairs of Japanese. In stratification analyses for definite cervical OPLL, we found loci with suggestive linkage on 1p21, 2p22-2p24, 7q22, 16q24 and 20p12. Fine mapping using additional markers detected the highest non-parametric linkage score (3.43, P = 0.00027) at D20S894 on chromosome 20p12 in a subgroup that had no complication of diabetes mellitus. Our result would shed a new light on genetic aspects of OPLL.

Original language	English
Pages (from-to)	136-143
Number of pages	8
Journal	Journal of Bone and Mineral Metabolism
Volume	31
Issue number	2
DOIs	https://doi.org/10.1007/s00774-012-0404-y
Publication status	Published - 2013 Mar

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Genome-wide linkage study
OPLL
Sib-pair

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Orthopedics and Sports Medicine
Endocrinology

Access to Document

10.1007/s00774-012-0404-y

Cite this

Karasugi, T., Nakajima, M., Ikari, K., Tsuji, T., Matsumoto, M., Chiba, K., Uchida, K., Kawaguchi, Y., Mizuta, H., Ogata, N., Iwasaki, M., Maeda, S., Numasawa, T., Abumi, K., Kato, T., Ozawa, H., Taguchi, T., Kaito, T., Neo, M., ... Ikegawa, S. (2013). A genome-wide sib-pair linkage analysis of Ossification of the posterior longitudinal ligament of the spine. Journal of Bone and Mineral Metabolism, 31(2), 136-143. https://doi.org/10.1007/s00774-012-0404-y

Karasugi, T, Nakajima, M, Ikari, K, Tsuji, T, Matsumoto, M, Chiba, K, Uchida, K, Kawaguchi, Y, Mizuta, H, Ogata, N, Iwasaki, M, Maeda, S, Numasawa, T, Abumi, K, Kato, T, Ozawa, H, Taguchi, T, Kaito, T, Neo, M, Yamazaki, M, Tadokoro, N, Yoshida, M, Nakahara, S, Endo, K, Imagama, S, Demura, S, Sato, K, Seichi, A, Ichimura, S, Watanabe, M, Watanabe, K, Nakamura, Y, Mori, K, Baba, H, Toyama, Y & Ikegawa, S 2013, 'A genome-wide sib-pair linkage analysis of Ossification of the posterior longitudinal ligament of the spine', Journal of Bone and Mineral Metabolism, vol. 31, no. 2, pp. 136-143. https://doi.org/10.1007/s00774-012-0404-y

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title = "A genome-wide sib-pair linkage analysis of Ossification of the posterior longitudinal ligament of the spine",

abstract = "Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common musculoskeletal disease among people after middle age. The OPLL presents with serious neurological abnormalities due to compression of the spinal cord and nerve roots. The OPLL is caused by genetic and environment factors; however, its etiology and pathogenesis still remain to be elucidated. To determine the susceptibility loci for OPLL, we performed a genome-wide linkage study using 214 affected sib-pairs of Japanese. In stratification analyses for definite cervical OPLL, we found loci with suggestive linkage on 1p21, 2p22-2p24, 7q22, 16q24 and 20p12. Fine mapping using additional markers detected the highest non-parametric linkage score (3.43, P = 0.00027) at D20S894 on chromosome 20p12 in a subgroup that had no complication of diabetes mellitus. Our result would shed a new light on genetic aspects of OPLL.",

keywords = "Genome-wide linkage study, OPLL, Sib-pair",

author = "Tatsuki Karasugi and Masahiro Nakajima and Katsunori Ikari and Takashi Tsuji and Morio Matsumoto and Kazuhiro Chiba and Kenzo Uchida and Yoshiharu Kawaguchi and Hiroshi Mizuta and Naoshi Ogata and Motoki Iwasaki and Shingo Maeda and Takuya Numasawa and Kuniyoshi Abumi and Tsuyoshi Kato and Hiroshi Ozawa and Toshihiko Taguchi and Takashi Kaito and Masashi Neo and Masashi Yamazaki and Nobuaki Tadokoro and Munehito Yoshida and Shinnosuke Nakahara and Kenji Endo and Shiro Imagama and Satoru Demura and Kimiaki Sato and Atsushi Seichi and Shoichi Ichimura and Masahiko Watanabe and Kei Watanabe and Yutaka Nakamura and Kanji Mori and Hisatoshi Baba and Yoshiaki Toyama and Shiro Ikegawa",

note = "Funding Information: We thank OPLL patients and their families who participated in this study and the Japan OPLL Network, including Ishikawa-prefecture OPLL Tomo-no-kai. We also thank members of the Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments. The work reported in this article was supported by a Grant for Intractable Diseases from the Public Health Bureau, the Ministry of Health and Welfare of Japan (Investigation Committee on Ossification of the Spinal Ligaments). ",

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doi = "10.1007/s00774-012-0404-y",

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AU - Karasugi, Tatsuki

AU - Nakajima, Masahiro

AU - Ikari, Katsunori

AU - Tsuji, Takashi

AU - Matsumoto, Morio

AU - Chiba, Kazuhiro

AU - Uchida, Kenzo

AU - Kawaguchi, Yoshiharu

AU - Mizuta, Hiroshi

AU - Ogata, Naoshi

AU - Iwasaki, Motoki

AU - Maeda, Shingo

AU - Numasawa, Takuya

AU - Abumi, Kuniyoshi

AU - Kato, Tsuyoshi

AU - Ozawa, Hiroshi

AU - Taguchi, Toshihiko

AU - Kaito, Takashi

AU - Neo, Masashi

AU - Yamazaki, Masashi

AU - Tadokoro, Nobuaki

AU - Yoshida, Munehito

AU - Nakahara, Shinnosuke

AU - Endo, Kenji

AU - Imagama, Shiro

AU - Demura, Satoru

AU - Sato, Kimiaki

AU - Seichi, Atsushi

AU - Ichimura, Shoichi

AU - Watanabe, Masahiko

AU - Watanabe, Kei

AU - Nakamura, Yutaka

AU - Mori, Kanji

AU - Baba, Hisatoshi

AU - Toyama, Yoshiaki

AU - Ikegawa, Shiro

N1 - Funding Information: We thank OPLL patients and their families who participated in this study and the Japan OPLL Network, including Ishikawa-prefecture OPLL Tomo-no-kai. We also thank members of the Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments. The work reported in this article was supported by a Grant for Intractable Diseases from the Public Health Bureau, the Ministry of Health and Welfare of Japan (Investigation Committee on Ossification of the Spinal Ligaments).

PY - 2013/3

Y1 - 2013/3

N2 - Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common musculoskeletal disease among people after middle age. The OPLL presents with serious neurological abnormalities due to compression of the spinal cord and nerve roots. The OPLL is caused by genetic and environment factors; however, its etiology and pathogenesis still remain to be elucidated. To determine the susceptibility loci for OPLL, we performed a genome-wide linkage study using 214 affected sib-pairs of Japanese. In stratification analyses for definite cervical OPLL, we found loci with suggestive linkage on 1p21, 2p22-2p24, 7q22, 16q24 and 20p12. Fine mapping using additional markers detected the highest non-parametric linkage score (3.43, P = 0.00027) at D20S894 on chromosome 20p12 in a subgroup that had no complication of diabetes mellitus. Our result would shed a new light on genetic aspects of OPLL.

AB - Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common musculoskeletal disease among people after middle age. The OPLL presents with serious neurological abnormalities due to compression of the spinal cord and nerve roots. The OPLL is caused by genetic and environment factors; however, its etiology and pathogenesis still remain to be elucidated. To determine the susceptibility loci for OPLL, we performed a genome-wide linkage study using 214 affected sib-pairs of Japanese. In stratification analyses for definite cervical OPLL, we found loci with suggestive linkage on 1p21, 2p22-2p24, 7q22, 16q24 and 20p12. Fine mapping using additional markers detected the highest non-parametric linkage score (3.43, P = 0.00027) at D20S894 on chromosome 20p12 in a subgroup that had no complication of diabetes mellitus. Our result would shed a new light on genetic aspects of OPLL.

KW - Genome-wide linkage study

KW - OPLL

KW - Sib-pair

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AN - SCOPUS:84884936941

SN - 0914-8779

VL - 31

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EP - 143

JO - Journal of Bone and Mineral Metabolism

JF - Journal of Bone and Mineral Metabolism

IS - 2

ER -

A genome-wide sib-pair linkage analysis of Ossification of the posterior longitudinal ligament of the spine

Abstract

UN SDGs

Keywords

ASJC Scopus subject areas

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