The extent of ossification of posterior longitudinal ligament of the spine associated with nucleotide pyrophosphatase gene and leptin receptor gene polymorphisms
The extent of ossification of posterior longitudinal ligament of the spine associated with nucleotide pyrophosphatase gene and leptin receptor gene polymorphisms
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DOI：
10.1097/01.brs.0000160686.18321.ad
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发表时间：
2005-04-15
期刊：
影响因子：
3
通讯作者：
Okawa, A
中科院分区：
文献类型：
--
作者：
Tahara, M;Aiba, A;Okawa, A
研究设计。一项关于脊柱后纵韧带骨化(OPLL)易感性和严重程度的病例对照研究。分析核苷酸焦磷酸酶(NPPS)基因和瘦素受体基因的多态是否易导致OPLL频率和严重程度的增加。NPPS基因是OPLL的动物模型TTW小鼠异位骨化的原因。Zucker肥胖大鼠是OPLL的另一个动物模型，它在瘦素受体基因上存在错义突变。对172例OPLL患者和93例非OPLL对照进行了分析。分析颈椎、胸椎和腰椎的X线片，以确定OPLL是否存在以及程度如何。提取所有受试者的基因组DNA。用聚合酶链式反应分析NPPS基因和瘦素受体基因的多态性。统计分析各基因多态性与OPLL发生发展及程度的关系。未发现NPPS和瘦素受体基因的多态与OPLL的存在显著相关。然而，与仅限于颈椎的OPLL患者相比，胸椎OPLL患者NPPS基因的IVS20 11delT变异和瘦素受体基因的A861G变异更常见。提示NPPS基因的IVS20 11delT变异和瘦素受体基因的A861G变异与更广泛的OPLL相关，但与OPLL的发生频率无关。
Study Design. A case-control study using radiograph findings and the PCR assay with regard to the susceptibility and the severity of ossification of posterior longitudinal ligament of the spine (OPLL).Objective. To analyze whether polymorphisms of the nucleotide pyrophosphatase ( NPPS) gene and the leptin receptor gene predispose to an increased frequency and severity of OPLL.Summary of Background Data. The NPPS gene is responsible for ectopic ossification in the ttw mouse, an animal model for OPLL. The Zucker fatty rat, another animal model for OPLL, has a missense mutation in the leptin receptor gene.Methods. Analysis of 172 OPLL patients and 93 non-OPLL controls was performed. Radiographs of the cervical, thoracic and lumber spine were analyzed to determine whether OPLL was present and to what degree. Genomic DNA was extracted from all participants. Polymorphisms of the NPPS gene and the leptin receptor gene were analyzed using the PCR assay. The association of the polymorphisms with the development and extent of OPLL were statistically evaluated.Results. No significant association was found between the polymorphisms and the existence of OPLL in both the NPPS and the leptin receptor genes. However, the IVS20 11delT variant in the NPPS gene and the A861G variant in the leptin receptor gene were more frequent in patients with OPLL in the thoracic spine compared with patients whose OPLL was restricted to the cervical spine.Conclusion. The present results suggest that the IVS20 11delT variant of the NPPS gene and the A861G variant of the leptin receptor gene are associated with more extensive OPLL, but not with the frequency with which it occurs.