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土耳其青少年特发性脊柱侧凸患者的单核苷酸多态性:曲线进展与 MATN-1、LCT C/T-13910 和 VDR BsmI 无关。

Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI.

机构信息

Departments of Physical Medicine, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey.

出版信息

J Orthop Res. 2012 Sep;30(9):1459-63. doi: 10.1002/jor.22075. Epub 2012 Jan 25.

Abstract

The role of genetics in the etiopathogenesis of adolescent idiopathic scoliosis (AIS) is unclear. In this study, we investigated the relationship between AIS and polymorphisms in MATN-1, LCT C/T-13910, and VDR BsmI genes. 53 Turkish adolescents with diagnosed AIS and 54 healthy adult individuals were included in the study. MATN-1, LCT C/T-13910, and VDR BsmI gene mutations were analyzed with real-time PCR. We did not detect a statistically significant difference between AIS and control groups in respect to those three different gene polymorphisms (p < 0.05). We next evaluated the associations of all three SNPs with scoliosis curve severity. There was no significant difference between curve severity and gene polymorphisms (p < 0.05). In terms of gene polymorphisms, AIS patients with a family history of AIS did not significantly differ from AIS patients who did not have history (p < 0.05). AIS might be caused by many different gene mutations, biomechanical mechanisms that have been modified by environmental factors, different biological interactions, modulation of growth, or a synergy of different factors causing abnormal control of growth. However, the existing knowledge is still not enough to explain the etiopathogenesis of AIS.

摘要

遗传学在青少年特发性脊柱侧凸(AIS)的发病机制中的作用尚不清楚。在这项研究中,我们研究了 AIS 与 MATN-1、LCT C/T-13910 和 VDR BsmI 基因多态性之间的关系。研究纳入了 53 名土耳其青少年 AIS 患者和 54 名健康成年人。采用实时 PCR 分析 MATN-1、LCT C/T-13910 和 VDR BsmI 基因突变。我们未发现 AIS 组与对照组在这三种不同基因多态性方面存在统计学显著差异(p<0.05)。我们接下来评估了所有三种 SNP 与脊柱侧凸曲线严重程度的关系。曲线严重程度与基因多态性之间无显著差异(p<0.05)。就基因多态性而言,有 AIS 家族史的 AIS 患者与无家族史的 AIS 患者无显著差异(p<0.05)。AIS 可能是由许多不同的基因突变引起的,也可能是由环境因素改变的生物力学机制、不同的生物学相互作用、生长的调节或不同因素的协同作用导致生长异常控制引起的。然而,现有知识仍不足以解释 AIS 的发病机制。

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