Nikolova Svetla Todorova, Yablanski Vasil Tsankov, Vlaev Evgeni Nedev, Stokov Luben Dimitrov, Savov Alexey Slavkov, Kremensky Ivo Marinov, Loukanov Alexandre Roumenov
*National Genetic Laboratory, Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University-Sofia†Tokuda Hospital Sofia, Orthopedic and Traumatology Clinic‡University Orthopedic Hospital "Prof. Boycho Boychev"§Molecular Medicine Center, Medical University-Sofia, Bulgaria||Graduate School of Science and Engineering, Saitama University, Japan.
Spine (Phila Pa 1976). 2016 May;41(9):785-91. doi: 10.1097/BRS.0000000000001360.
A case-control study was performed on 105 patients with idiopathic scoliosis (IS) and 210 unrelated gender-matched controls from Bulgarian population.
Investigation of the association between common genetic polymorphisms of IL-6 and MMP3 genes and the etiology and progression of IS among Bulgarian patients.
The IL-6 and MMP3 genes have been considered as candidate genes of IS in Caucasian population.
Molecular detection of the promoter polymorphisms of IL-6 and MMP3 was performed by polymerase chain reaction followed by restriction fragment length polymorphism. The statistical analysis was performed by χ test with a value of P < 0.05 as statistically significant. The combinatorial effect of the candidate genes was also examined.
This case-control study revealed statistically significant association between the IL-6 (rs1800795) functional polymorphism and susceptibility to IS (χ = 16.055; P < 0.0001). In addition, a significant association between IL-6 (rs1800795) and curve severity was detected (χ = 16.87; P < 0.0001). No genotype or allele of MMP3 (rs3025058) was found to be correlated to the onset or progression of IS (P > 0.05). One IL-6-MMP3 genotype combination was associated with the susceptibility to IS.
IL-6 gene could be considered as a susceptibility and modifying factor of IS. The identification of molecular markers with diagnostic and prognostic value could be useful for early detection of children at risk for the development of IS and for prognosis of the risk for a rapid deformity progression. That would facilitate the therapy decisions and early stage treatment of the patient with the least invasive procedures.
对105例特发性脊柱侧凸（IS）患者和210名来自保加利亚人群的性别匹配的无关对照进行了病例对照研究。
研究白细胞介素-6（IL-6）和基质金属蛋白酶-3（MMP3）基因常见遗传多态性与保加利亚患者IS病因及进展之间的关联。
在白种人群中，IL-6和MMP3基因被视为IS的候选基因。
采用聚合酶链反应（PCR）后限制性片段长度多态性分析技术对IL-6和MMP3启动子多态性进行分子检测。采用χ²检验进行统计学分析，P值<0.05为差异有统计学意义。同时还检测了候选基因的联合效应。
该病例对照研究显示，IL-6（rs1800795）功能多态性与IS易感性之间存在统计学显著关联（χ²=16.055；P<0.0001）。此外，还检测到IL-6（rs1800795）与侧弯严重程度之间存在显著关联（χ²=16.87；P<0.0001）。未发现MMP3（rs3025058）的基因型或等位基因与IS的发病或进展相关（P>0.05）。一种IL-6-MMP3基因型组合与IS易感性相关。
IL-6基因可被视为IS的易感性和修饰因子。识别具有诊断和预后价值的分子标志物，有助于早期发现有IS发生风险的儿童，并对快速畸形进展风险进行预后评估。这将有助于做出治疗决策，并采用侵入性最小的程序对患者进行早期治疗。
4级。
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