Publication Date:
2014-08-28
Description:
Nature Genetics 46, 1012 (2014). doi:10.1038/ng.3045 Authors: Masahiro Nakajima, Atsushi Takahashi, Takashi Tsuji, Tatsuki Karasugi, Hisatoshi Baba, Kenzo Uchida, Shigenori Kawabata, Atsushi Okawa, Shigeo Shindo, Kazuhiro Takeuchi, Yuki Taniguchi, Shingo Maeda, Masafumi Kashii, Atsushi Seichi, Hideaki Nakajima, Yoshiharu Kawaguchi, Shunsuke Fujibayashi, Masahiko Takahata, Toshihiro Tanaka, Kei Watanabe, Kazunobu Kida, Tsukasa Kanchiku, Zenya Ito, Kanji Mori, Takashi Kaito, Sho Kobayashi, Kei Yamada, Masahito Takahashi, Kazuhiro Chiba, Morio Matsumoto, Ken-Ichi Furukawa, Michiaki Kubo, Yoshiaki Toyama & Shiro Ikegawa 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.
Print ISSN:
1061-4036
Electronic ISSN:
1546-1718
Topics:
Biology
,
Medicine
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