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.

• Authors: Tatsuki Karasugi, Masahiro Nakajima, Katsunori Ikari, Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments, 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
• Journal: Journal of bone and mineral metabolism (J Bone Miner Metab) Vol. 31 Issue 2 Pg. 136-43 (Mar 2013) ISSN: 1435-5604 [Electronic] Japan
• PMID: 23138351 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Chromosomes, Human (genetics)
• Female
• Genetic Linkage
• Genome, Human (genetics)
• Humans
• Male
• Middle Aged
• Ossification of Posterior Longitudinal Ligament (genetics)
• Physical Chromosome Mapping
• Siblings