Genomic study of ossification of the posterior longitudinal ligament of the spine.
Genomic study of ossification of the posterior longitudinal ligament of the spine.
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DOI：
10.2183/pjab.90.405
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Ikegawa S
中科院分区：
文献类型：
--
作者：
Ikegawa S
脊柱后纵韧带骨化症（OPLL）是中年以后常见的疾病。由于脊髓和/或神经根的压迫，OPLL经常导致严重的神经问题。OPLL发生在单基因代谢疾病患者中，包括佝偻病/骨软化症和甲状旁腺功能减退症;然而，大多数OPLL是特发性的，被认为是受遗传和环境因素影响的多因素（多基因）疾病。主要在日本进行了OPLL遗传因素的基因组研究，包括连锁和关联研究。本文综述了OPLL基因组学研究的最新进展，并对今后的研究方向进行了展望。
Ossification of the posterior longitudinal ligament of the spine (OPLL) is a common disease after the middle age. OPLL frequently causes serious neurological problems due to compression of the spinal cord and/or nerve roots. OPLL occurs in patients with monogenic metabolic diseases including rickets/osteomalacia and hypoparathyroidism; however most of OPLL is idiopathic and is considered as a multi-factorial (polygenic) disease influenced by genetic and environmental factors. Genomic studies for the genetic factors of OPLL have been conducted, mainly in Japan, including linkage and association studies. This paper reviews the recent progress in the genomic study of OPLL and comments on its future direction.