Literature DB >> 25064007

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

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


  37 in total

1.  Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.

Authors:  Toshihiro Tanaka; Katsunori Ikari; Kozo Furushima; Akihiro Okada; Hiroshi Tanaka; Ken-Ichi Furukawa; Kenichi Yoshida; Toshiyuki Ikeda; Shiro Ikegawa; Steven C Hunt; Jun Takeda; Satoshi Toh; Seiko Harata; Toshiaki Nakajima; Ituro Inoue
Journal:  Am J Hum Genet       Date:  2003-09-04       Impact factor: 11.025

2.  A large-scale genetic association study of ossification of the posterior longitudinal ligament of the spine.

Authors:  Taizo Horikoshi; Koichi Maeda; Yoshiharu Kawaguchi; Kazuhiro Chiba; Kanji Mori; Yu Koshizuka; Shigeru Hirabayashi; Kazuhito Sugimori; Morio Matsumoto; Hiroshi Kawaguchi; Makoto Takahashi; Hisashi Inoue; Tomoatsu Kimura; Yoshitaka Matsusue; Itsuro Inoue; Hisatoshi Baba; Kozo Nakamura; Shiro Ikegawa
Journal:  Hum Genet       Date:  2006-04-12       Impact factor: 4.132

3.  Principal components analysis corrects for stratification in genome-wide association studies.

Authors:  Alkes L Price; Nick J Patterson; Robert M Plenge; Michael E Weinblatt; Nancy A Shadick; David Reich
Journal:  Nat Genet       Date:  2006-07-23       Impact factor: 38.330

Review 4.  The BioBank Japan Project.

Authors:  Yusuke Nakamura
Journal:  Clin Adv Hematol Oncol       Date:  2007-09

5.  Osteogenic lineage commitment of mesenchymal stem cells from patients with ossification of the posterior longitudinal ligament.

Authors:  Yoshifumi Harada; Ken-Ichi Furukawa; Toru Asari; Shunfu Chin; Atsushi Ono; Toshihiro Tanaka; Hiroki Mizukami; Manabu Murakami; Soroku Yagihashi; Shigeru Motomura; Yasuyuki Ishibashi
Journal:  Biochem Biophys Res Commun       Date:  2013-12-19       Impact factor: 3.575

6.  Ossification of the posterior longitudinal ligament of the cervical spine: histopathological findings around the calcification and ossification front.

Authors:  Ryuichiro Sato; Kenzo Uchida; Shigeru Kobayashi; Takafumi Yayama; Yasuo Kokubo; Hideaki Nakajima; Takaharu Takamura; Alexander Bangirana; Hiroshi Itoh; Hisatoshi Baba
Journal:  J Neurosurg Spine       Date:  2007-08

Review 7.  Ciliary disorder of the skeleton.

Authors:  Celine Huber; Valerie Cormier-Daire
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-07-12       Impact factor: 3.908

8.  Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine.

Authors:  A Okawa; I Nakamura; S Goto; H Moriya; Y Nakamura; S Ikegawa
Journal:  Nat Genet       Date:  1998-07       Impact factor: 38.330

9.  A promoter-level mammalian expression atlas.

Authors:  Alistair R R Forrest; Hideya Kawaji; Michael Rehli; J Kenneth Baillie; Michiel J L de Hoon; Vanja Haberle; Timo Lassmann; Ivan V Kulakovskiy; Marina Lizio; Masayoshi Itoh; Robin Andersson; Christopher J Mungall; Terrence F Meehan; Sebastian Schmeier; Nicolas Bertin; Mette Jørgensen; Emmanuel Dimont; Erik Arner; Christian Schmidl; Ulf Schaefer; Yulia A Medvedeva; Charles Plessy; Morana Vitezic; Jessica Severin; Colin A Semple; Yuri Ishizu; Robert S Young; Margherita Francescatto; Intikhab Alam; Davide Albanese; Gabriel M Altschuler; Takahiro Arakawa; John A C Archer; Peter Arner; Magda Babina; Sarah Rennie; Piotr J Balwierz; Anthony G Beckhouse; Swati Pradhan-Bhatt; Judith A Blake; Antje Blumenthal; Beatrice Bodega; Alessandro Bonetti; James Briggs; Frank Brombacher; A Maxwell Burroughs; Andrea Califano; Carlo V Cannistraci; Daniel Carbajo; Yun Chen; Marco Chierici; Yari Ciani; Hans C Clevers; Emiliano Dalla; Carrie A Davis; Michael Detmar; Alexander D Diehl; Taeko Dohi; Finn Drabløs; Albert S B Edge; Matthias Edinger; Karl Ekwall; Mitsuhiro Endoh; Hideki Enomoto; Michela Fagiolini; Lynsey Fairbairn; Hai Fang; Mary C Farach-Carson; Geoffrey J Faulkner; Alexander V Favorov; Malcolm E Fisher; Martin C Frith; Rie Fujita; Shiro Fukuda; Cesare Furlanello; Masaaki Furino; Jun-ichi Furusawa; Teunis B Geijtenbeek; Andrew P Gibson; Thomas Gingeras; Daniel Goldowitz; Julian Gough; Sven Guhl; Reto Guler; Stefano Gustincich; Thomas J Ha; Masahide Hamaguchi; Mitsuko Hara; Matthias Harbers; Jayson Harshbarger; Akira Hasegawa; Yuki Hasegawa; Takehiro Hashimoto; Meenhard Herlyn; Kelly J Hitchens; Shannan J Ho Sui; Oliver M Hofmann; Ilka Hoof; Furni Hori; Lukasz Huminiecki; Kei Iida; Tomokatsu Ikawa; Boris R Jankovic; Hui Jia; Anagha Joshi; Giuseppe Jurman; Bogumil Kaczkowski; Chieko Kai; Kaoru Kaida; Ai Kaiho; Kazuhiro Kajiyama; Mutsumi Kanamori-Katayama; Artem S Kasianov; Takeya Kasukawa; Shintaro Katayama; Sachi Kato; Shuji Kawaguchi; Hiroshi Kawamoto; Yuki I Kawamura; Tsugumi Kawashima; Judith S Kempfle; Tony J Kenna; Juha Kere; Levon M Khachigian; Toshio Kitamura; S Peter Klinken; Alan J Knox; Miki Kojima; Soichi Kojima; Naoto Kondo; Haruhiko Koseki; Shigeo Koyasu; Sarah Krampitz; Atsutaka Kubosaki; Andrew T Kwon; Jeroen F J Laros; Weonju Lee; Andreas Lennartsson; Kang Li; Berit Lilje; Leonard Lipovich; Alan Mackay-Sim; Ri-ichiroh Manabe; Jessica C Mar; Benoit Marchand; Anthony Mathelier; Niklas Mejhert; Alison Meynert; Yosuke Mizuno; David A de Lima Morais; Hiromasa Morikawa; Mitsuru Morimoto; Kazuyo Moro; Efthymios Motakis; Hozumi Motohashi; Christine L Mummery; Mitsuyoshi Murata; Sayaka Nagao-Sato; Yutaka Nakachi; Fumio Nakahara; Toshiyuki Nakamura; Yukio Nakamura; Kenichi Nakazato; Erik van Nimwegen; Noriko Ninomiya; Hiromi Nishiyori; Shohei Noma; Shohei Noma; Tadasuke Noazaki; Soichi Ogishima; Naganari Ohkura; Hiroko Ohimiya; Hiroshi Ohno; Mitsuhiro Ohshima; Mariko Okada-Hatakeyama; Yasushi Okazaki; Valerio Orlando; Dmitry A Ovchinnikov; Arnab Pain; Robert Passier; Margaret Patrikakis; Helena Persson; Silvano Piazza; James G D Prendergast; Owen J L Rackham; Jordan A Ramilowski; Mamoon Rashid; Timothy Ravasi; Patrizia Rizzu; Marco Roncador; Sugata Roy; Morten B Rye; Eri Saijyo; Antti Sajantila; Akiko Saka; Shimon Sakaguchi; Mizuho Sakai; Hiroki Sato; Suzana Savvi; Alka Saxena; Claudio Schneider; Erik A Schultes; Gundula G Schulze-Tanzil; Anita Schwegmann; Thierry Sengstag; Guojun Sheng; Hisashi Shimoji; Yishai Shimoni; Jay W Shin; Christophe Simon; Daisuke Sugiyama; Takaai Sugiyama; Masanori Suzuki; Naoko Suzuki; Rolf K Swoboda; Peter A C 't Hoen; Michihira Tagami; Naoko Takahashi; Jun Takai; Hiroshi Tanaka; Hideki Tatsukawa; Zuotian Tatum; Mark Thompson; Hiroo Toyodo; Tetsuro Toyoda; Elvind Valen; Marc van de Wetering; Linda M van den Berg; Roberto Verado; Dipti Vijayan; Ilya E Vorontsov; Wyeth W Wasserman; Shoko Watanabe; Christine A Wells; Louise N Winteringham; Ernst Wolvetang; Emily J Wood; Yoko Yamaguchi; Masayuki Yamamoto; Misako Yoneda; Yohei Yonekura; Shigehiro Yoshida; Susan E Zabierowski; Peter G Zhang; Xiaobei Zhao; Silvia Zucchelli; Kim M Summers; Harukazu Suzuki; Carsten O Daub; Jun Kawai; Peter Heutink; Winston Hide; Tom C Freeman; Boris Lenhard; Vladimir B Bajic; Martin S Taylor; Vsevolod J Makeev; Albin Sandelin; David A Hume; Piero Carninci; Yoshihide Hayashizaki
Journal:  Nature       Date:  2014-03-27       Impact factor: 49.962

10.  Defining human ERAD networks through an integrative mapping strategy.

Authors:  John C Christianson; James A Olzmann; Thomas A Shaler; Mathew E Sowa; Eric J Bennett; Caleb M Richter; Ryan E Tyler; Ethan J Greenblatt; J Wade Harper; Ron R Kopito
Journal:  Nat Cell Biol       Date:  2011-11-27       Impact factor: 28.824

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  39 in total

1.  Circulating sclerostin and dickkopf-1 levels in ossification of the posterior longitudinal ligament of the spine.

Authors:  Masafumi Kashii; Yohei Matuso; Tsuyoshi Sugiura; Takahito Fujimori; Yukitaka Nagamoto; Takahiro Makino; Takashi Kaito; Kosuke Ebina; Motoki Iwasaki; Hideki Yoshikawa
Journal:  J Bone Miner Metab       Date:  2015-06-04       Impact factor: 2.626

2.  Role of Runx2 polymorphisms in risk and prognosis of ossification of posterior longitudinal ligament.

Authors:  Feng Chang; Lijun Li; Gang Gao; Shengqiang Ding; Jincai Yang; Ting Zhang; Genle Zuo
Journal:  J Clin Lab Anal       Date:  2016-10-05       Impact factor: 2.352

3.  Gene targeting of the transcription factor Mohawk in rats causes heterotopic ossification of Achilles tendon via failed tenogenesis.

Authors:  Hidetsugu Suzuki; Yoshiaki Ito; Masahiro Shinohara; Satoshi Yamashita; Shizuko Ichinose; Akio Kishida; Takuya Oyaizu; Tomohiro Kayama; Ryo Nakamichi; Naoki Koda; Kazuyoshi Yagishita; Martin K Lotz; Atsushi Okawa; Hiroshi Asahara
Journal:  Proc Natl Acad Sci U S A       Date:  2016-07-01       Impact factor: 11.205

4.  Construction of a population-specific HLA imputation reference panel and its application to Graves' disease risk in Japanese.

Authors:  Yukinori Okada; Yukihide Momozawa; Kyota Ashikawa; Masahiro Kanai; Koichi Matsuda; Yoichiro Kamatani; Atsushi Takahashi; Michiaki Kubo
Journal:  Nat Genet       Date:  2015-06-01       Impact factor: 38.330

5.  LGR5 regulates osteogenic differentiation of human thoracic ligamentum flavum cells by Wnt signalling pathway.

Authors:  Xiaoxi Yang; Chuiguo Sun; Xiangyu Meng; Guanghui Chen; Tianqi Fan; Chi Zhang; Zhongqiang Chen
Journal:  J Cell Mol Med       Date:  2022-06-06       Impact factor: 5.295

6.  Clinical Characteristics of Patients with Ossification of the Posterior Longitudinal Ligament and a High OP Index: A Multicenter Cross-Sectional Study (JOSL Study).

Authors:  Takashi Hirai; Toshitaka Yoshii; Jun Hashimoto; Shuta Ushio; Kanji Mori; Satoshi Maki; Keiichi Katsumi; Narihito Nagoshi; Kazuhiro Takeuchi; Takeo Furuya; Kei Watanabe; Norihiro Nishida; Soraya Nishimura; Kota Watanabe; Takashi Kaito; Satoshi Kato; Katsuya Nagashima; Masao Koda; Hiroaki Nakashima; Shiro Imagama; Kazuma Murata; Yuji Matsuoka; Kanichiro Wada; Atsushi Kimura; Tetsuro Ohba; Hiroyuki Katoh; Masahiko Watanabe; Yukihiro Matsuyama; Hiroshi Ozawa; Hirotaka Haro; Katsushi Takeshita; Morio Matsumoto; Masaya Nakamura; Satoru Egawa; Yu Matsukura; Hiroyuki Inose; Atsushi Okawa; Masashi Yamazaki; Yoshiharu Kawaguchi
Journal:  J Clin Med       Date:  2022-06-27       Impact factor: 4.964

7.  Endothelin-1 Pathway Polymorphisms and Outcomes in Pulmonary Arterial Hypertension.

Authors:  Raymond L Benza; Mardi Gomberg-Maitland; Teresa Demarco; Adaani E Frost; Adam Torbicki; David Langleben; Tomas Pulido; Priscilla Correa-Jaque; Michael J Passineau; Howard W Wiener; Mayumi Tamari; Tomomitsu Hirota; Michiaki Kubo; Hemant K Tiwari
Journal:  Am J Respir Crit Care Med       Date:  2015-12-01       Impact factor: 21.405

8.  A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.

Authors:  Yoji Ogura; Ikuyo Kou; Shigenori Miura; Atsushi Takahashi; Leilei Xu; Kazuki Takeda; Yohei Takahashi; Katsuki Kono; Noriaki Kawakami; Koki Uno; Manabu Ito; Shohei Minami; Ikuho Yonezawa; Haruhisa Yanagida; Hiroshi Taneichi; Zezhang Zhu; Taichi Tsuji; Teppei Suzuki; Hideki Sudo; Toshiaki Kotani; Kota Watanabe; Naobumi Hosogane; Eijiro Okada; Aritoshi Iida; Masahiro Nakajima; Akihiro Sudo; Kazuhiro Chiba; Yuji Hiraki; Yoshiaki Toyama; Yong Qiu; Chisa Shukunami; Yoichiro Kamatani; Michiaki Kubo; Morio Matsumoto; Shiro Ikegawa
Journal:  Am J Hum Genet       Date:  2015-07-23       Impact factor: 11.025

9.  Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine.

Authors:  Masahiro Nakajima; Ikuyo Kou; Hirofumi Ohashi; Shiro Ikegawa
Journal:  Am J Hum Genet       Date:  2016-06-30       Impact factor: 11.025

10.  CORR Insights®: An Unrecognized Ligament and its Ossification in the Craniocervical Junction: Prevalence, Patient Characteristics, and Anatomic Evidence.

Authors:  Jiayong Liu
Journal:  Clin Orthop Relat Res       Date:  2021-08-01       Impact factor: 4.755

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