Details

Autor(en) / Beteiligte

• Nakajima, Masahiro
• Takahashi, Atsushi
• Tsuji, Takashi
• Karasugi, Tatsuki
• Baba, Hisatoshi
• Uchida, Kenzo
• Kawabata, Shigenori
• Okawa, Atsushi
• Shindo, Shigeo
• Takeuchi, Kazuhiro
• Taniguchi, Yuki
• Maeda, Shingo
• Kashii, Masafumi
• Seichi, Atsushi
• Nakajima, Hideaki
• Kawaguchi, Yoshiharu
• Fujibayashi, Shunsuke
• Takahata, Masahiko
• Tanaka, Toshihiro
• Watanabe, Kei
• Kida, Kazunobu
• Kanchiku, Tsukasa
• Ito, Zenya
• Mori, Kanji
• Kaito, Takashi
• Kobayashi, Sho
• Yamada, Kei
• Takahashi, Masahito
• Chiba, Kazuhiro
• Matsumoto, Morio
• Furukawa, Ken-Ichi
• Kubo, Michiaki
• Toyama, Yoshiaki
• Ikegawa, Shiro

Titel

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

Ist Teil von

• Nature genetics, 2014-09, Vol.46 (9), p.1012-1016

Ort / Verlag

London: Nature Publishing Group UK

Erscheinungsjahr

2014

Quelle

MEDLINE

Beschreibungen/Notizen

• Shiro Ikegawa and colleagues report the results of a genome-wide association study for ossification of the posterior longitudinal ligament of the spine in a Japanese cohort. They identify six new loci, three of which showed decreased expression in a mouse model of endochondral ossification. 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.