Department of Neurosurgery, The Spine and Spinal Cord Institute, Yonsei University College of Medicine, 712, Eonjuro, Gangnam-gu, Seoul, 135-720, South Korea.
Acta Neurochir (Wien). 2013 Oct;155(10):1937-42. doi: 10.1007/s00701-013-1747-4. Epub 2013 Jun 4.
Abnormalities of bone metabolism may be involved in the pathogenesis of ossification of the posterior longitudinal ligament (OPLL) of the spine. Besides its hemostatic effect, vitamin K epoxide reductase complex subunit 1 (VKORC1) plays a pivotal role in bone mineralization. The aim of this study is to investigate whether single nucleotide polymorphisms (SNPs) of the VKORC1 gene are associated with the occurrence of OPLL in a Korean population.
A total of 98 patients with OPLL and 200 controls were genotyped for the VKORC1-1639G>A SNP (rs9923231) by polymerase chain reaction and restriction fragment length polymorphism analysis. All the patients (n = 98) in this study underwent surgery (60, posterior-only approach; 36, anterior-only approach; 2, combined anterior and posterior approach) during their admission. We analyzed this association separately according to the gender and OPLL subgroup: OPLL continuous group (continuous type plus mixed type) and OPLL segmental group (segmental and localized type).
We found that the genotype VKORC1-1639G>A frequency was significantly associated with the occurrence of the OPLL in the female group (adjusted odds ratio = 5.22, 95 % confidence interval: 1.675 to 16.269, p = 0.004). However, there was no overall association between the OPLL susceptibility and VKORC1-1639G>A polymorphism. A subgroup analysis did not show any significant correlation between VKORC1-1639G>A polymorphism and subgroup of OPLL either.
Our results suggest that the VKORC1-1639G>A SNP may increase susceptibility to OPLL in women. However, there was only a statistical association in the female group despite a number of stratified analyses. Therefore, the findings should be interpreted with caution, and further genetic study is needed to improve our understanding of the role of VKORC1 polymorphisms in determining the risk of OPLL occurrence.
骨代谢异常可能参与了脊柱后纵韧带骨化症（OPLL）的发病机制。维生素 K 环氧化物还原酶复合物亚基 1（VKORC1）除了具有止血作用外，还在骨矿化中发挥关键作用。本研究旨在探讨韩国人群中 VKORC1 基因的单核苷酸多态性（SNPs）是否与 OPLL 的发生有关。
通过聚合酶链反应和限制性片段长度多态性分析，对 98 例 OPLL 患者和 200 例对照者的 VKORC1-1639G>A 单核苷酸多态性（rs9923231）进行基因分型。本研究中的所有患者（n=98）在住院期间均接受了手术（60 例采用单纯后路入路，36 例采用单纯前路入路，2 例采用前后联合入路）。我们根据性别和 OPLL 亚组（连续型加混合型和节段型）分别分析了这种相关性。
我们发现 VKORC1-1639G>A 基因型频率与女性 OPLL 的发生显著相关（调整后的优势比=5.22，95%置信区间：1.675 至 16.269，p=0.004）。然而，VKORC1-1639G>A 多态性与 OPLL 易感性之间没有总体相关性。亚组分析也没有显示 VKORC1-1639G>A 多态性与 OPLL 亚组之间存在任何显著相关性。
我们的结果表明，VKORC1-1639G>A SNP 可能会增加女性发生 OPLL 的易感性。然而，尽管进行了多项分层分析，但仅在女性组中存在统计学关联。因此，这些发现应谨慎解释，需要进一步的遗传研究来提高我们对 VKORC1 多态性在决定 OPLL 发生风险中的作用的理解。
