TY - JOUR
T1 - A genome-wide sib-pair linkage analysis of Ossification of the posterior longitudinal ligament of the spine
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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U2 - 10.1007/s00774-012-0404-y
DO - 10.1007/s00774-012-0404-y
M3 - Article
C2 - 23138351
AN - SCOPUS:84884936941
SN - 0914-8779
VL - 31
SP - 136
EP - 143
JO - Journal of Bone and Mineral Metabolism
JF - Journal of Bone and Mineral Metabolism
IS - 2
ER -
