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Runx2基因多态性在后纵韧带骨化症风险及预后中的作用

Role of Runx2 polymorphisms in risk and prognosis of ossification of posterior longitudinal ligament.

作者信息

Chang Feng, Li Lijun, Gao Gang, Ding Shengqiang, Yang Jincai, Zhang Ting, Zuo Genle

机构信息

Department of Orthopaedic Surgery, Affiliated Shanxi Provincial People's Hospital, Shanxi Medical University, Taiyuan, Shanxi, China.

Department of Orthopaedic Surgery, Affiliated Beijing Chaoyang Hospital, Capital Medical University, Beijing, China.

出版信息

J Clin Lab Anal. 2017 Jul;31(4). doi: 10.1002/jcla.22068. Epub 2016 Oct 5.

Abstract

BACKGROUND

Our study was aimed at finding out if Runx2 SNPs (single-nucleotide polymorphisms) are related to susceptibility to and prognosis of ossification of posterior longitudinal ligament (OPLL).

METHODS

We selected 80 OPLL patients and another 80 independent patients without OPLL from September 2013 to November 2014. Serum was collected to detect the genotypes of rs1321075, rs12333172, and rs1406846 on Runx2 with direct sequencing analysis.

RESULTS

Differences in clinical characteristics, including age, weight, height, sex ratio, as well as smoking and drinking history, between OPLL and control groups appeared to be insignificant (all P-value >.05). The allele of rs1406846 (A) emerged as a key element in raising OPLL risk with the biggest statistical significance (P<.001). Conversely, alleles of rs967588 (T) and rs16873379 (C) were associated with reduced predisposition to OPLL less remarkably (both P=.033). Regarding rs16873379, the case group exhibited a smaller frequency of homozygote CC in comparison with TT genotype than the control group (P=.016). Furthermore, the improvement rate based on calculation of JOA score suggested that genotype AA of rs6908650 was beneficial for OPLL patients' recovery from posterior laminoplasty surgery (P<.05), while genotypes of rs16873379 (CC), rs1406846 (AA), and rs2677108 (CC) significantly restrained this process (P<.05). Besides, rs16873379, rs1406846, and rs2677108 were significantly associated with number of ossification segments (P<.05).

CONCLUSIONS

Runx2 SNPs (e.g., rs16873379, rs1406846, and rs2677108) were strongly correlated with onset and treatment efficacy of OPLL, and they might regulate severity of OPLL.

摘要

背景

我们的研究旨在探究Runx2单核苷酸多态性(SNPs)是否与后纵韧带骨化症(OPLL)的易感性及预后相关。

方法

2013年9月至2014年11月期间,我们选取了80例OPLL患者以及另外80例无OPLL的独立患者。采集血清,采用直接测序分析法检测Runx2基因上rs1321075、rs12333172和rs1406846的基因型。

结果

OPLL组与对照组在临床特征方面,包括年龄、体重、身高、性别比例以及吸烟和饮酒史,差异均无统计学意义(所有P值>.05)。rs1406846的等位基因A是增加OPLL风险的关键因素,具有最大的统计学意义(P<.001)。相反,rs967588的等位基因T和rs16873379的等位基因C与降低OPLL易感性的关联不太显著(两者P=.033)。关于rs16873379,病例组纯合子CC的频率低于对照组TT基因型(P=.016)。此外,基于JOA评分计算的改善率表明,rs6908650的基因型AA有利于OPLL患者后路椎板成形术的恢复(P<.05),而rs16873379(CC)、rs1406846(AA)和rs2677108(CC)的基因型则显著抑制这一过程(P<.05)。此外,rs16873379、rs1406846和rs2677108与骨化节段数显著相关(P<.05)。

结论

Runx2 SNPs(如rs16873379、rs1406846和rs2677108)与OPLL的发病及治疗效果密切相关,可能调控OPLL的严重程度。

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