Replication of Association Between 53 Single-Nucleotide Polymorphisms in a DNA-Based Diagnostic Test and AIS Progression in Chinese Han Population
Replication of Association Between 53 Single-Nucleotide Polymorphisms in a DNA-Based Diagnostic Test and AIS Progression in Chinese Han Population
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DOI：
10.1097/brs.0000000000001203
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发表时间：
2016-02-01
期刊：
影响因子：
3
通讯作者：
Zhu, Zezhang
中科院分区：
文献类型：
--
作者：
Xu, Leilei;Qin, Xiaodong;Zhu, Zezhang
研究设计：一项仅病例研究。目的：本研究的目的是评估中国青少年特发性脊柱侧凸（AIS）患者中53个单核苷酸多态性（SNPs）与脊柱侧凸进展的预后相关性。背景资料概要：ScoliScore是第一个开发用于白色人群中AIS曲线进展的诊断试剂盒。方法：本研究共纳入670例AIS患者，其中313例为非进展组，357例为进展组。使用基于PCR的Invader测定法对ScoliScore中包含的一组53个SNP进行基因分型。结果：rs 9945359和rs 17044552是两组间仅有的两个等位基因频率有显著性差异的SNP。rs 9945359等位基因A在进展组显著高于非进展组（25.7%vs 19.5%，P=0.01），rs 17044552等位基因A在进展组显著低于非进展组（11.5%vs 16.4%，P=0.01）。这2个SNP的比值比（OR）分别为1.42 [95%可信区间（95%CI）1.09-1.88]和0.65（95%CI 0.47-0.91）。其他51个SNPs的等位基因频率在两组间差异无统计学意义。结论：ScoliScore不能预测中国汉族人群AIS的曲线进展。然而，不能完全排除该测试在其他人群中的作用，需要在其他种族群体中进行额外的重复研究，以评估这些SNP的意义。证据等级：4
Study Design.A case-only study.Objective.The aim of this study was to evaluate the association of the 53 single-nucleotide polymorphisms (SNPs) in a prognostic test with curve progression in Chinese adolescent idiopathic scoliosis (AIS) patients.Summary of Background Data.ScoliScore was the first diagnostic kit developed for curve progression of AIS in the white population. To date, there is still a paucity of validation of ScoliScore in Chinese Han population.Methods.A total of 670 AIS patients were included in the study, with 313 patients assigned to the nonprogression group and the other 357 patients assigned to the progression group. A panel of 53 SNPs encompassed in ScoliScore were genotyped using the PCR-based Invader assay. The allele frequencies were compared between AIS patients with progressive curve and those with nonprogressive curve.Results.SNP rs9945359 and rs17044552 are the only 2 SNPs that had significantly different allele frequencies between the 2 groups. Allele A of rs9945359 was significantly higher in the progression group than in the nonprogression group (25.7% vs 19.5%, P=0.01), and allele A of rs17044552 was significantly lower in the progression group (11.5% vs 16.4%, P=0.01). The odds ratio (OR) of these 2 SNPs were 1.42 [95% confidence interval (95% CI) 1.09-1.88] and 0.65 (95% CI 0.47-0.91), respectively. As for the allele frequencies of the other 51 SNPs, no significant difference was found between the 2 groups.Conclusion.ScoliScore could not be able to predict the curve progression of AIS in Chinese Han population. However, the role of this test in other populations cannot be totally excluded, and additional replication studies in other ethnic groups are warranted to evaluate the significance of these SNPs.Level of Evidence: 4